Variant report

Variant	nsv482337
Chromosome Location	chr5:180210102-180403232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4049)
CpG islands
(count:6168)
Chromatin interactive
region (count:266)
LncRNA
region (count:105)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4049 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180247668-180248301	GM12878	blood:	n/a	chr5:180248216-180248227
2	ATF2	chr5:180241124-180241744	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180237110-180237633	GM12878	blood:	n/a	n/a
4	ATF2	chr5:180287641-180288731	GM12878	blood:	n/a	n/a
5	ATF2	chr5:180230701-180231257	GM12878	blood:	n/a	n/a
6	ATF2	chr5:180236745-180237952	GM12878	blood:	n/a	n/a
7	ATF2	chr5:180212570-180213141	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:180258377-180258920	GM12878	blood:	n/a	n/a
9	ATF2	chr5:180212679-180213244	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr5:180295130-180295721	GM12878	blood:	n/a	n/a
11	ATF2	chr5:180232067-180232523	GM12878	blood:	n/a	n/a
12	ATF2	chr5:180288318-180288726	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr5:180237161-180237598	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:180257705-180258044	GM12878	blood:	n/a	n/a
15	ATF2	chr5:180287523-180287977	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr5:180259450-180260089	GM12878	blood:	n/a	n/a
17	ATF2	chr5:180230642-180231278	GM12878	blood:	n/a	n/a
18	ATF2	chr5:180257642-180258201	GM12878	blood:	n/a	n/a
19	ATF3	chr5:180300916-180301148	K562	blood:	n/a	n/a
20	ATF3	chr5:180237170-180237691	A549	lung:	n/a	n/a
21	ATF3	chr5:180300831-180301293	K562	blood:	n/a	n/a
22	ATF3	chr5:180266949-180267264	K562	blood:	n/a	n/a
23	ATF3	chr5:180258535-180258898	A549	lung:	n/a	n/a
24	BATF	chr5:180336078-180336346	GM12878	blood:	n/a	n/a
25	BATF	chr5:180295359-180295616	GM12878	blood:	n/a	n/a
26	BATF	chr5:180300882-180301218	GM12878	blood:	n/a	n/a
27	BATF	chr5:180295385-180295684	GM12878	blood:	n/a	n/a
28	BATF	chr5:180300881-180301195	GM12878	blood:	n/a	n/a
29	BCL11A	chr5:180232123-180232507	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
30	BCL11A	chr5:180402385-180402643	GM12878	blood:	n/a	chr5:180402541-180402550
31	BCL11A	chr5:180232158-180232406	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
32	BCL11A	chr5:180230806-180231108	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:180230781-180231384	GM12878	blood:	n/a	n/a
34	BCL3	chr5:180237078-180237785	A549	lung:	n/a	n/a
35	BCL3	chr5:180236674-180237936	A549	lung:	n/a	n/a
36	BCL3	chr5:180257765-180258237	A549	lung:	n/a	n/a
37	BCL3	chr5:180229192-180229773	A549	lung:	n/a	n/a
38	BCL3	chr5:180258428-180259048	A549	lung:	n/a	n/a
39	BCL3	chr5:180287597-180288561	A549	lung:	n/a	chr5:180288052-180288061 chr5:180287721-180287730
40	BCL3	chr5:180229004-180229979	A549	lung:	n/a	chr5:180229768-180229781
41	BCL3	chr5:180258428-180258981	A549	lung:	n/a	n/a
42	BCLAF1	chr5:180236822-180237095	GM12878	blood:	n/a	n/a
43	BCLAF1	chr5:180230612-180231315	GM12878	blood:	n/a	n/a
44	BCLAF1	chr5:180231999-180232495	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
45	BCLAF1	chr5:180229465-180229929	GM12878	blood:	n/a	chr5:180229768-180229781
46	BCLAF1	chr5:180287393-180288777	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
47	BCLAF1	chr5:180241139-180241759	GM12878	blood:	n/a	n/a
48	BCLAF1	chr5:180232063-180232608	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
49	BCLAF1	chr5:180259390-180260221	GM12878	blood:	n/a	chr5:180259952-180259965 chr5:180259629-180259638
50	BCLAF1	chr5:180287997-180288590	K562	blood:	n/a	chr5:180288052-180288061

(count:6168 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180325954-180326004	A549	lung:	n/a
2	chr5:180213189-180213239	HRE	kidney:	n/a
3	chr5:180272367-180272417	GM12891	blood:	n/a
4	chr5:180325254-180325304	MCF-7	breast:	n/a
5	chr5:180231026-180231076	HIPEpiC	eye:	n/a
6	chr5:180336487-180336537	GM12878	blood:	n/a
7	chr5:180237215-180237265	K562	blood:	n/a
8	chr5:180325954-180326004	A549	lung:	n/a
9	chr5:180213189-180213239	HRE	kidney:	n/a
10	chr5:180272367-180272417	GM12891	blood:	n/a
11	chr5:180325254-180325304	MCF-7	breast:	n/a
12	chr5:180231026-180231076	HIPEpiC	eye:	n/a
13	chr5:180336487-180336537	GM12878	blood:	n/a
14	chr5:180237215-180237265	K562	blood:	n/a
15	chr5:180296196-180296246	IMR90	lung:	fetal
16	chr5:180296196-180296246	HNPCEpiC	eye:	n/a
17	chr5:180397910-180397960	HCF	heart:	n/a
18	chr5:180386655-180386705	PFSK-1	brain:	n/a
19	chr5:180375511-180375561	HRPEpiC	eye:	n/a
20	chr5:180231084-180231134	LNCaP	prostate:	n/a
21	chr5:180230130-180230180	HEK293	kidney:	embryo
22	chr5:180288995-180289045	CMK	blood:	n/a
23	chr5:180258265-180258315	HIPEpiC	eye:	n/a
24	chr5:180288206-180288256	NH-A	brain:	n/a
25	chr5:180220005-180220055	H1-hESC	embryonic stem cell:	embryo
26	chr5:180227299-180227349	HCPEpiC	choroid plexus:	n/a
27	chr5:180230115-180230165	PrEC	prostate:	n/a
28	chr5:180237215-180237265	HCT-116	colon:	n/a
29	chr5:180248018-180248068	GM12878	blood:	n/a
30	chr5:180238208-180238258	HPAEpiC	pulmonary alveolar:	n/a
31	chr5:180397496-180397546	Caco-2	colon:	n/a
32	chr5:180258265-180258315	HAEpiC	amniotic membrane:	n/a
33	chr5:180218509-180218559	SK-N-SH	brain:	n/a
34	chr5:180249016-180249066	ECC-1	luminal epithelium:	n/a
35	chr5:180288429-180288479	NH-A	brain:	n/a
36	chr5:180231155-180231205	RPTEC	kidney:	n/a
37	chr5:180244832-180244882	HCT-116	colon:	n/a
38	chr5:180230115-180230165	PFSK-1	brain:	n/a
39	chr5:180229067-180229117	GM12878	blood:	n/a
40	chr5:180238296-180238346	Jurkat	blood:	n/a
41	chr5:180338435-180338485	PFSK-1	brain:	n/a
42	chr5:180377617-180377667	CMK	blood:	n/a
43	chr5:180296196-180296246	NHDF-neo	bronchial:	n/a
44	chr5:180230767-180230817	NB4	blood:	n/a
45	chr5:180238208-180238258	MCF-7	breast:	n/a
46	chr5:180287825-180287875	HEK293	kidney:	embryo
47	chr5:180288729-180288779	ovcar-3	ovarian:	n/a
48	chr5:180292677-180292727	HCT-116	colon:	n/a
49	chr5:180237311-180237361	GM12892	blood:	n/a
50	chr5:180231185-180231235	PANC-1	pancreas:	n/a

(count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr5:180248851..180251777-chr5:180263688..180265832,2	K562	blood:
2	chr5:180217957..180220948-chr5:180429295..180431970,2	K562	blood:
3	chr5:180251826..180253544-chr5:180279600..180282158,2	MCF-7	breast:
4	chr5:180293338..180295885-chr5:180297016..180299416,2	MCF-7	breast:
5	chr5:180255616..180259441-chr5:180261236..180265313,7	MCF-7	breast:
6	chr5:180236252..180239102-chr5:180648903..180651470,3	MCF-7	breast:
7	chr5:180240270..180241199-chr5:180250010..180250973,3	MCF-7	breast:
8	chr5:180228762..180230384-chr5:180272938..180275384,2	MCF-7	breast:
9	chr5:180228489..180231362-chr5:180631934..180633728,2	MCF-7	breast:
10	chr5:180299531..180301189-chr5:180314779..180317197,2	MCF-7	breast:
11	chr5:180260907..180268562-chr5:180284401..180289844,9	K562	blood:
12	chr5:180254080..180259696-chr5:180286312..180289720,8	MCF-7	breast:
13	chr5:180228090..180233792-chr5:180285929..180290144,13	MCF-7	breast:
14	chr5:180262394..180264164-chr5:180266350..180269420,3	K562	blood:
15	chr5:180292569..180294597-chr5:180585218..180588014,2	K562	blood:
16	chr5:180301093..180303783-chr5:180304288..180306195,2	K562	blood:
17	chr5:180216327..180219256-chr5:180485099..180486798,2	K562	blood:
18	chr5:180261765..180263546-chr5:180263773..180266273,2	K562	blood:
19	chr5:180211281..180211887-chr5:180586366..180586939,2	MCF-7	breast:
20	chr5:180236869..180238700-chr5:180478692..180481089,2	MCF-7	breast:
21	chr3:167451977..167452619-chr5:180236387..180237300,2	Hela-S3	cervix:
22	chr5:180227369..180230069-chr5:180671459..180674771,3	MCF-7	breast:
23	chr5:180253475..180256307-chr5:180256485..180258167,2	K562	blood:
24	chr5:180299852..180302725-chr5:180469235..180471904,2	K562	blood:
25	chr5:180207548..180210211-chr5:180589188..180591545,3	K562	blood:
26	chr5:180296198..180297824-chr5:180477910..180480531,2	K562	blood:
27	chr5:180251826..180253544-chr5:180279600..180282158,2	MCF-7	breast:
28	chr5:180235508..180238459-chr5:180267237..180269270,2	K562	blood:
29	chr5:180257317..180259652-chr5:180282182..180285146,2	MCF-7	breast:
30	chr5:180295747..180296610-chr5:180586301..180586884,3	MCF-7	breast:
31	chr3:63847711..63850273-chr5:180232882..180234817,2	MCF-7	breast:
32	chr5:180295710..180296339-chr5:180482283..180482883,2	MCF-7	breast:
33	chr5:180257450..180259454-chr5:180621834..180624735,2	MCF-7	breast:
34	chr5:180229701..180231391-chr5:180258127..180259793,2	K562	blood:
35	chr5:180229757..180232364-chr5:180289807..180291765,2	K562	blood:
36	chr5:180255602..180258511-chr5:180276329..180279939,4	K562	blood:
37	chr17:79825577..79828319-chr5:180288108..180290016,2	MCF-7	breast:
38	chr5:180209019..180210957-chr5:180453882..180456380,2	K562	blood:
39	chr5:180235621..180237447-chr5:180275097..180276820,2	K562	blood:
40	chr5:180260120..180262465-chr5:180285542..180288192,2	MCF-7	breast:
41	chr5:180288754..180291107-chr5:180359607..180361510,2	K562	blood:
42	chr5:180228090..180233792-chr5:180285929..180290144,13	MCF-7	breast:
43	chr5:180234090..180241537-chr5:180284888..180291277,19	K562	blood:
44	chr21:34602670..34603176-chr5:180229179..180229749,2	NB4	blood:
45	chr5:180235524..180237646-chr5:180274342..180276820,3	K562	blood:
46	chr5:180286717..180289851-chr5:180668647..180672351,4	MCF-7	breast:
47	chr5:180264302..180266196-chr5:180270901..180273309,2	MCF-7	breast:
48	chr5:180301093..180303783-chr5:180304288..180306195,2	K562	blood:
49	chr5:180287191..180290968-chr5:180649202..180652395,5	MCF-7	breast:
50	chr5:180290898..180293889-chr5:180598131..180599944,2	MCF-7	breast:

(count:105 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
2	lnc-BTNL8-3	chr5:180258759-180258941	NONHSAT105842
3	lnc-BTNL8-7	chr5:180229468-180229575	l_3082_chr5:180229467-180230967_thyroid
4	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105839
5	lnc-MGAT1-2	chr5:180257708-180258941	XLOC_005110
6	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
7	lnc-BTNL8-1	chr5:180297962-180298361	XLOC_004685
8	lnc-BTNL8-3	chr5:180258759-180258941	ENSG00000245060
9	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105837
10	lnc-ZFP62-3	chr5:180236364-180236875	NONHSAT105817
11	lnc-ZFP62-3	chr5:180222430-180222875	NONHSAT105810
12	lnc-MGAT1-2	chr5:180253871-180254267	XLOC_005110
13	lnc-MGAT1-2	chr5:180253932-180254267	XLOC_005110
14	lnc-BTNL8-4	chr5:180394848-180395567	NONHSAT105854
15	lnc-BTNL8-3	chr5:180259673-180259860	NONHSAT105840
16	lnc-MGAT1-2	chr5:180257072-180257406	XLOC_005110
17	lnc-MGAT1-2	chr5:180258725-180258806	XLOC_005110
18	lnc-ZFP62-3	chr5:180242425-180242567	NONHSAT105809
19	lnc-BTNL8-3	chr5:180256969-180258229	NONHSAT105843
20	lnc-BTNL8-3	chr5:180258736-180258806	NONHSAT105839
21	lnc-BTNL8-3	chr5:180259673-180259860	NR_045679
22	lnc-BTNL8-3	chr5:180261312-180262726	NR_027183
23	lnc-BTNL8-6	chr5:180237297-180238375	NONHSAT105819
24	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105847
25	lnc-BTNL8-3	chr5:180259673-180259860	ENSG00000245060
26	lnc-MGAT1-2	chr5:180255314-180255379	XLOC_005110
27	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105840
28	lnc-ZFP62-3	chr5:180236014-180236076	NONHSAT105818
29	lnc-MGAT1-2	chr5:180257708-180259036	XLOC_005110
30	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105840
31	lnc-ZFP62-3	chr5:180235836-180236076	NONHSAT105812
32	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105838
33	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
34	lnc-BTNL8-3	chr5:180258736-180258941	NONHSAT105838
35	lnc-MGAT1-2	chr5:180255984-180257403	XLOC_005110
36	lnc-ZFP62-3	chr5:180235844-180236076	NONHSAT105817
37	lnc-MGAT1-2	chr5:180257671-180258618	NONHSAT105835
38	lnc-BTNL8-3	chr5:180257957-180258229	NR_045679
39	lnc-MGAT1-2	chr5:180256804-180257403	XLOC_005110
40	lnc-BTNL8-7	chr5:180230568-180230967	l_3082_chr5:180229467-180230967_thyroid
41	lnc-BTNL8-3	chr5:180256959-180258595	NONHSAT105841
42	lnc-ZFP62-3	chr5:180235839-180236066	NONHSAT105814
43	lnc-MGAT1-2	chr5:180257708-180258946	XLOC_005110
44	lnc-ZFP62-3	chr5:180229680-180229767	NONHSAT105810
45	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105838
46	lnc-ZFP62-3	chr5:180222406-180222875	NONHSAT105809
47	lnc-MGAT1-2	chr5:180257008-180257406	XLOC_005110
48	lnc-ZFP62-3	chr5:180235841-180236076	NONHSAT105816
49	lnc-BTNL8-3	chr5:180257957-180258229	ENSG00000245060
50	lnc-BTNL8-3	chr5:180258027-180258229	ENSG00000245060

No data

Variant related genes	Relation type
ENSG00000248761	TF binding region
ZFP62	TF binding region
ENSG00000249287	TF binding region
ENSG00000260841	TF binding region
RPS29P12	TF binding region
LINC00847	TF binding region
BTNL8	TF binding region
ENSG00000222852	TF binding region
MGAT1	TF binding region
ENSG00000248761	CpG island
ZFP62	CpG island
ENSG00000249287	CpG island
ENSG00000260841	CpG island
RPS29P12	CpG island
LINC00847	CpG island
BTNL8	CpG island
ENSG00000222852	CpG island
MGAT1	CpG island
ENSG00000146063	chromatin interactions
ENSG00000268397	chromatin interactions
ENSG00000250900	chromatin interactions
ENSG00000215256	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000114209	chromatin interactions
ENSG00000113303	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000206686	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000081791	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000182613	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000259826	chromatin interactions
ENSG00000157326	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000243664	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000222852	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000159110	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000272296	chromatin interactions
SOCS5	miRNA target sites
TGFB2	miRNA target sites
CLINT1	miRNA target sites
NIN	miRNA target sites
RNF144A	miRNA target sites
IL1B	miRNA target sites
ZNF785	miRNA target sites
DMXL1	miRNA target sites
SHOC2	miRNA target sites
CCNJ	miRNA target sites
HEBP2	miRNA target sites
RNF141	miRNA target sites
WTAP	miRNA target sites
CDC34	miRNA target sites
ASCC3	miRNA target sites
CHD9	miRNA target sites
SOS2	miRNA target sites
CCDC76	miRNA target sites
BTG2	miRNA target sites

Extended variants
information (count: 7297 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:7297 , 50 per page) page: 1 2 3 4 5 6 7 ... 146

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7725365	chr5:180210118-180210119	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568561036	chr5:180210136-180210137	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs181755043	chr5:180210141-180210142	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs547757821	chr5:180210157-180210158	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs368906920	chr5:180210254-180210255	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs75724092	chr5:180210272-180210273	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs142010227	chr5:180210273-180210274	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs150684844	chr5:180210283-180210284	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs574996189	chr5:180210315-180210316	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs74634428	chr5:180210316-180210317	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs554789386	chr5:180210332-180210333	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs574528837	chr5:180210337-180210338	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs139257622	chr5:180210361-180210362	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs560470536	chr5:180210379-180210380	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs577172016	chr5:180210400-180210401	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs546231228	chr5:180210407-180210408	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs376504667	chr5:180210412-180210413	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs568803546	chr5:180210435-180210436	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs562825700	chr5:180210505-180210506	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs12109677	chr5:180210506-180210507	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566391230	chr5:180210509-180210510	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs185451750	chr5:180210510-180210511	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs562342123	chr5:180210591-180210592	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs115085618	chr5:180210608-180210609	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs528157824	chr5:180210634-180210635	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs547943370	chr5:180210639-180210640	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs12109686	chr5:180210656-180210657	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539697498	chr5:180210660-180210661	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs551800866	chr5:180210757-180210758	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs568504088	chr5:180210799-180210800	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs537978875	chr5:180210840-180210841	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs12109771	chr5:180210867-180210868	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574443939	chr5:180210911-180210912	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs73815120	chr5:180210939-180210940	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553966949	chr5:180210991-180210992	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs116021106	chr5:180210992-180210993	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs577215594	chr5:180211125-180211126	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs546119233	chr5:180211136-180211137	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs376919207	chr5:180211147-180211148	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs3733754	chr5:180211280-180211281	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs79319723	chr5:180211288-180211289	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs3733753	chr5:180211294-180211295	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557462828	chr5:180211302-180211303	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs116094472	chr5:180211312-180211313	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs189974815	chr5:180211350-180211351	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs564336137	chr5:180211374-180211375	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs533485957	chr5:180211390-180211391	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs550045581	chr5:180211401-180211402	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs147173393	chr5:180211408-180211409	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs386695811	chr5:180211477-180211478	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Mental retardation	20877625	CNVD
Medulloblastoma	21163964	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:5869 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180203000-180212400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:180204400-180215400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:180205600-180211800	Weak transcription	Liver	Liver
4	chr5:180205800-180212400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:180206000-180212200	Weak transcription	Lung	lung
6	chr5:180206600-180212400	Weak transcription	Aorta	Aorta
7	chr5:180206800-180210800	Weak transcription	Esophagus	oesophagus
8	chr5:180207000-180214600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:180207200-180212200	Weak transcription	Right Atrium	heart
10	chr5:180207200-180212400	Weak transcription	Fetal Intestine Large	intestine
11	chr5:180207800-180210800	Weak transcription	Placenta	Placenta
12	chr5:180208000-180212000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:180208000-180212400	Weak transcription	Psoas Muscle	Psoas
14	chr5:180209200-180214000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:180209200-180214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:180209400-180210200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:180209600-180210200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:180209600-180210400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:180209800-180210400	Enhancers	Primary T cells from cord blood	blood
20	chr5:180209800-180211000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:180209800-180212200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:180209800-180213200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:180210000-180210200	Enhancers	Colon Smooth Muscle	Colon
24	chr5:180210000-180210400	Enhancers	Thymus	Thymus
25	chr5:180210000-180211200	Enhancers	K562	blood
26	chr5:180210000-180214000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:180210000-180217800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:180210200-180210400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:180210200-180210600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:180210200-180211200	Enhancers	Fetal Thymus	thymus
31	chr5:180210200-180212400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:180210200-180212400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:180210200-180217400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:180210400-180210600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:180210400-180210800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:180210400-180211000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:180210400-180211000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:180210400-180211000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:180210400-180212200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:180210400-180212200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:180210400-180212200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:180210400-180212400	Weak transcription	Thymus	Thymus
43	chr5:180210400-180214000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:180210400-180215000	Weak transcription	Primary T cells from cord blood	blood
45	chr5:180210600-180211000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr5:180210600-180211600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:180210600-180212200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:180210800-180211200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:180210800-180211200	Enhancers	Esophagus	oesophagus
50	chr5:180210800-180211200	Enhancers	Placenta	Placenta

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