Variant report

Variant	nsv1033330
Chromosome Location	chr5:180063241-180256969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3127)
CpG islands
(count:5740)
Chromatin interactive
region (count:157)
LncRNA
region (count:58)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3127 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180241124-180241744	GM12878	blood:	n/a	n/a
2	ATF2	chr5:180236745-180237952	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180230701-180231257	GM12878	blood:	n/a	n/a
4	ATF2	chr5:180237110-180237633	GM12878	blood:	n/a	n/a
5	ATF2	chr5:180212679-180213244	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:180230642-180231278	GM12878	blood:	n/a	n/a
7	ATF2	chr5:180212570-180213141	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:180232067-180232523	GM12878	blood:	n/a	n/a
9	ATF2	chr5:180237161-180237598	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr5:180144959-180145359	GM12878	blood:	n/a	n/a
11	ATF2	chr5:180247668-180248301	GM12878	blood:	n/a	chr5:180248216-180248227
12	ATF3	chr5:180237170-180237691	A549	lung:	n/a	n/a
13	BATF	chr5:180145040-180145312	GM12878	blood:	n/a	chr5:180145207-180145218
14	BATF	chr5:180169789-180169977	GM12878	blood:	n/a	n/a
15	BATF	chr5:180145061-180145379	GM12878	blood:	n/a	chr5:180145207-180145218
16	BATF	chr5:180097198-180097443	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:180230781-180231384	GM12878	blood:	n/a	n/a
18	BCL11A	chr5:180145100-180145299	GM12878	blood:	n/a	chr5:180145235-180145244
19	BCL11A	chr5:180232158-180232406	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
20	BCL11A	chr5:180085399-180085773	GM12878	blood:	n/a	n/a
21	BCL11A	chr5:180230806-180231108	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:180232123-180232507	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
23	BCL11A	chr5:180145000-180145348	GM12878	blood:	n/a	chr5:180145235-180145244
24	BCL3	chr5:180236674-180237936	A549	lung:	n/a	n/a
25	BCL3	chr5:180229004-180229979	A549	lung:	n/a	chr5:180229768-180229781
26	BCL3	chr5:180229192-180229773	A549	lung:	n/a	n/a
27	BCL3	chr5:180237078-180237785	A549	lung:	n/a	n/a
28	BCL3	chr5:180097085-180097491	GM12878	blood:	n/a	n/a
29	BCLAF1	chr5:180241139-180241759	GM12878	blood:	n/a	n/a
30	BCLAF1	chr5:180229465-180229929	GM12878	blood:	n/a	chr5:180229768-180229781
31	BCLAF1	chr5:180236822-180237095	GM12878	blood:	n/a	n/a
32	BCLAF1	chr5:180231999-180232495	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
33	BCLAF1	chr5:180237131-180238121	GM12878	blood:	n/a	n/a
34	BCLAF1	chr5:180230677-180231223	GM12878	blood:	n/a	n/a
35	BCLAF1	chr5:180232063-180232608	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
36	BCLAF1	chr5:180237147-180238092	GM12878	blood:	n/a	n/a
37	BCLAF1	chr5:180230612-180231315	GM12878	blood:	n/a	n/a
38	CBX3	chr5:180255728-180256481	K562	blood:	n/a	n/a
39	CBX3	chr5:180215613-180215981	K562	blood:	n/a	n/a
40	CBX3	chr5:180236603-180238282	K562	blood:	n/a	n/a
41	CBX3	chr5:180208858-180209504	K562	blood:	n/a	n/a
42	CBX3	chr5:180255752-180256324	K562	blood:	n/a	n/a
43	CBX3	chr5:180237201-180237752	K562	blood:	n/a	n/a
44	CBX3	chr5:180127492-180127736	K562	blood:	n/a	n/a
45	CBX3	chr5:180198766-180199290	K562	blood:	n/a	n/a
46	CBX3	chr5:180256725-180258272	K562	blood:	n/a	n/a
47	CBX3	chr5:180230256-180231419	K562	blood:	n/a	n/a
48	CBX3	chr5:180245996-180246265	K562	blood:	n/a	n/a
49	CBX3	chr5:180198844-180199194	K562	blood:	n/a	n/a
50	CBX3	chr5:180208965-180209392	K562	blood:	n/a	n/a

(count:5740 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180230130-180230180	GM12892	blood:	n/a
2	chr5:180113361-180113411	HCM	heart:	n/a
3	chr5:180167566-180167616	NH-A	brain:	n/a
4	chr5:180230146-180230196	Caco-2	colon:	n/a
5	chr5:180249016-180249066	AG04449	skin:	fetal
6	chr5:180166694-180166744	NT2-D1	testis:	n/a
7	chr5:180230130-180230180	GM12892	blood:	n/a
8	chr5:180113361-180113411	HCM	heart:	n/a
9	chr5:180167566-180167616	NH-A	brain:	n/a
10	chr5:180230146-180230196	Caco-2	colon:	n/a
11	chr5:180249016-180249066	AG04449	skin:	fetal
12	chr5:180166694-180166744	NT2-D1	testis:	n/a
13	chr5:180099956-180100006	HRE	kidney:	n/a
14	chr5:180238795-180238845	LNCaP	prostate:	n/a
15	chr5:180073429-180073479	PFSK-1	brain:	n/a
16	chr5:180236965-180237015	GM12892	blood:	n/a
17	chr5:180249016-180249066	BE2_C	brain:	n/a
18	chr5:180231155-180231205	SK-N-MC	brain:	n/a
19	chr5:180231194-180231244	PFSK-1	brain:	n/a
20	chr5:180238010-180238060	AG04449	skin:	fetal
21	chr5:180238010-180238060	HAEpiC	amniotic membrane:	n/a
22	chr5:180101281-180101331	PFSK-1	brain:	n/a
23	chr5:180219707-180219757	HEEpiC	esophagus:	n/a
24	chr5:180071916-180071966	A549	lung:	n/a
25	chr5:180249016-180249066	HRPEpiC	eye:	n/a
26	chr5:180219707-180219757	H1-hESC	embryonic stem cell:	embryo
27	chr5:180231185-180231235	HCF	heart:	n/a
28	chr5:180236965-180237015	PrEC	prostate:	n/a
29	chr5:180103241-180103291	AG09319	gingival:	n/a
30	chr5:180229164-180229214	PFSK-1	brain:	n/a
31	chr5:180116385-180116435	SK-N-SH	brain:	n/a
32	chr5:180238795-180238845	HRPEpiC	eye:	n/a
33	chr5:180231155-180231205	HIPEpiC	eye:	n/a
34	chr5:180079228-180079278	HL-60	blood:	n/a
35	chr5:180230911-180230961	U87	brain:	n/a
36	chr5:180235800-180235850	BE2_C	brain:	n/a
37	chr5:180230130-180230180	NB4	blood:	n/a
38	chr5:180230767-180230817	AG10803	skin:	n/a
39	chr5:180244832-180244882	Caco-2	colon:	n/a
40	chr5:180073429-180073479	HPAEpiC	pulmonary alveolar:	n/a
41	chr5:180252309-180252359	HCT-116	colon:	n/a
42	chr5:180071816-180071866	Hepatocyte	liver:	n/a
43	chr5:180071916-180071966	LNCaP	prostate:	n/a
44	chr5:180086260-180086310	HIPEpiC	eye:	n/a
45	chr5:180231185-180231235	A549	lung:	n/a
46	chr5:180229753-180229803	HL-60	blood:	n/a
47	chr5:180237215-180237265	NHBE	bronchial:	n/a
48	chr5:180231026-180231076	HNPCEpiC	eye:	n/a
49	chr5:180220005-180220055	AG09309	skin:	n/a
50	chr5:180166694-180166744	K562	blood:	n/a

(count:157 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr11:67396772..67397765-chr5:180236385..180237144,2	Hela-S3	cervix:
2	chr5:180091768..180093922-chr5:180095583..180097208,2	K562	blood:
3	chr5:180209019..180210957-chr5:180453882..180456380,2	K562	blood:
4	chr5:180229102..180229758-chr5:180237619..180238245,2	MCF-7	breast:
5	chr5:180207548..180210211-chr5:180589188..180591545,3	K562	blood:
6	chr5:180210073..180212750-chr5:180649135..180651698,2	MCF-7	breast:
7	chr17:79824227..79826340-chr5:180238433..180240406,2	MCF-7	breast:
8	chr5:180094037..180096535-chr5:180099976..180102790,2	K562	blood:
9	chr5:180227912..180229802-chr5:180527459..180529455,2	K562	blood:
10	chr5:180153993..180156519-chr5:180159947..180161759,2	K562	blood:
11	chr5:180235829..180239179-chr5:180240712..180247762,18	K562	blood:
12	chr5:180202113..180204208-chr5:180208493..180210882,2	K562	blood:
13	chr5:180236324..180238724-chr6:44214143..44216444,2	MCF-7	breast:
14	chr5:179919075..179921338-chr5:180210769..180213087,2	MCF-7	breast:
15	chr5:180216327..180219256-chr5:180485099..180486798,2	K562	blood:
16	chr5:180251826..180253544-chr5:180279600..180282158,2	MCF-7	breast:
17	chr5:180037911..180038640-chr5:180145288..180145999,2	MCF-7	breast:
18	chr5:180048663..180050730-chr5:180113911..180116171,2	K562	blood:
19	chr5:180254080..180259696-chr5:180286312..180289720,8	MCF-7	breast:
20	chr5:180130605..180132994-chr5:180134010..180136773,2	MCF-7	breast:
21	chr5:180228090..180233792-chr5:180285929..180290144,13	MCF-7	breast:
22	chr5:180248851..180251777-chr5:180263688..180265832,2	K562	blood:
23	chr5:180236869..180238700-chr5:180478692..180481089,2	MCF-7	breast:
24	chr5:179718262..179720717-chr5:180237170..180239607,2	MCF-7	breast:
25	chr5:180221672..180224385-chr5:180256701..180259508,2	K562	blood:
26	chr5:180146148..180147851-chr5:180235768..180238086,2	K562	blood:
27	chr5:180076787..180079357-chr5:180092252..180095157,2	K562	blood:
28	chr15:65596768..65597378-chr5:180229638..180230159,2	HCT-116	colon:
29	chr5:180211375..180212214-chr5:180226180..180226854,2	MCF-7	breast:
30	chr5:180236072..180238455-chr5:180650563..180652075,2	K562	blood:
31	chr15:90744086..90745012-chr5:180236694..180237219,2	Hela-S3	cervix:
32	chr5:180083705..180084315-chr6:10033064..10033612,2	MCF-7	breast:
33	chr5:180217067..180219759-chr5:180269419..180271439,2	K562	blood:
34	chr5:180240345..180242769-chr5:180244325..180245984,3	K562	blood:
35	chr5:180234969..180240620-chr5:180256376..180260296,6	K562	blood:
36	chr5:180228575..180230835-chr5:180669512..180671482,2	K562	blood:
37	chr5:180250225..180253423-chr5:180256395..180259857,6	K562	blood:
38	chr5:180223525..180226490-chr5:180609242..180611026,2	K562	blood:
39	chr5:180094037..180096535-chr5:180099976..180102790,2	K562	blood:
40	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
41	chr5:180240270..180241199-chr5:180250010..180250973,3	MCF-7	breast:
42	chr5:180217957..180220948-chr5:180429295..180431970,2	K562	blood:
43	chr5:180222666..180225025-chr5:180609526..180611478,2	K562	blood:
44	chr5:180032730..180033573-chr5:180097208..180098138,2	MCF-7	breast:
45	chr5:180255602..180258511-chr5:180276329..180279939,4	K562	blood:
46	chr5:180208714..180211702-chr5:180212096..180213803,2	K562	blood:
47	chr5:180091768..180093922-chr5:180095583..180097208,2	K562	blood:
48	chr5:180065065..180066811-chr5:180072819..180075038,2	K562	blood:
49	chr5:180171538..180174150-chr5:180179388..180180987,2	K562	blood:
50	chr5:180136617..180138276-chr5:180153652..180155749,2	K562	blood:

(count:58 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105838
2	lnc-BTNL8-3	chr5:180256969-180258229	NONHSAT105843
3	lnc-BTNL8-5	chr5:180250102-180250965	NONHSAT105820
4	lnc-ZFP62-3	chr5:180242414-180242541	NONHSAT105814
5	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
6	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
7	lnc-ZFP62-3	chr5:180235836-180236076	NONHSAT105812
8	lnc-ZFP62-3	chr5:180235841-180236075	NONHSAT105815
9	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105842
10	lnc-BTNL8-7	chr5:180229468-180229575	l_3082_chr5:180229467-180230967_thyroid
11	lnc-BTNL8-8	chr5:180193918-180195284	ucscGeneNc_uc003mmk_2
12	lnc-ZFP62-3	chr5:180237192-180237503	NONHSAT105812
13	lnc-FLT4-1	chr5:180098892-180099598	NONHSAT105695
14	lnc-BTNL8-6	chr5:180237297-180238375	NONHSAT105819
15	lnc-MGAT1-2	chr5:180256956-180257430	ENSG00000249705
16	lnc-MGAT1-2	chr5:180256937-180257403	XLOC_005110
17	lnc-ZFP62-3	chr5:180242425-180242567	NONHSAT105809
18	lnc-ZFP62-3	chr5:180235839-180236066	NONHSAT105814
19	lnc-MGAT1-2	chr5:180255314-180255379	XLOC_005110
20	lnc-BTNL8-8	chr5:180192279-180192466	ucscGeneNc_uc003mmk_2
21	lnc-BTNL8-8	chr5:180190563-180190835	ucscGeneNc_uc003mmk_2
22	lnc-MGAT1-2	chr5:180253864-180254267	XLOC_005110
23	lnc-MGAT1-2	chr5:180255984-180257403	XLOC_005110
24	lnc-CNOT6-3	chr5:180112648-180113546	NONHSAT105706
25	lnc-MGAT1-2	chr5:180253868-180254267	XLOC_005110
26	lnc-CNOT6-3	chr5:180112649-180113546	XLOC_004682
27	lnc-BTNL8-3	chr5:180256959-180258806	NONHSAT105837
28	lnc-ZFP62-3	chr5:180235526-180235594	NONHSAT105811
29	lnc-BTNL8-3	chr5:180256959-180258595	NONHSAT105841
30	lnc-CNOT6-3	chr5:180111766-180111906	XLOC_004682
31	lnc-ZFP62-3	chr5:180237729-180237938	NONHSAT105815
32	lnc-OR2Y1-1	chr5:180155280-180155484	expReg_chr5_11028_-
33	lnc-MGAT1-2	chr5:180253871-180254267	XLOC_005110
34	lnc-ZFP62-3	chr5:180235844-180236076	NONHSAT105817
35	lnc-BTNL8-7	chr5:180230568-180230967	l_3082_chr5:180229467-180230967_thyroid
36	lnc-MGAT1-2	chr5:180256937-180257406	XLOC_005110
37	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105836
38	lnc-ZFP62-3	chr5:180235841-180236076	NONHSAT105816
39	lnc-ZFP62-3	chr5:180237432-180237505	NONHSAT105813
40	lnc-ZFP62-3	chr5:180236014-180236076	NONHSAT105818
41	lnc-ZFP62-3	chr5:180235838-180236076	NONHSAT105813
42	lnc-ZFP62-3	chr5:180242414-180242652	NONHSAT105816
43	lnc-MGAT1-2	chr5:180255226-180255255	XLOC_005110
44	lnc-MGAT1-2	chr5:180256804-180257403	XLOC_005110
45	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105839
46	lnc-ZFP62-3	chr5:180222430-180222875	NONHSAT105810
47	lnc-ZFP62-3	chr5:180237040-180237440	NONHSAT105818
48	lnc-BTNL8-3	chr5:180256956-180257430	ENSG00000249705
49	lnc-CNOT6-3	chr5:180111765-180111906	NONHSAT105706
50	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105840

No data

Variant related genes	Relation type
LINC00847	TF binding region
FLT4	TF binding region
OR2AI1P	TF binding region
RNU1-17P	TF binding region
MGAT1	TF binding region
ENSG00000260841	TF binding region
ENSG00000248717	TF binding region
OR2Y1	TF binding region
ENSG00000251352	TF binding region
LINC00847	CpG island
FLT4	CpG island
OR2AI1P	CpG island
RNU1-17P	CpG island
MGAT1	CpG island
ENSG00000260841	CpG island
ENSG00000248717	CpG island
OR2Y1	CpG island
ENSG00000251352	CpG island
ENSG00000199004	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000037280	chromatin interactions
ENSG00000159110	chromatin interactions
ENSG00000259826	chromatin interactions
ENSG00000199892	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000157326	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000215256	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000114209	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000081791	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000268397	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000236791	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000245060	chromatin interactions
CHD9	miRNA target sites
RNF144A	miRNA target sites
RNF141	miRNA target sites

Extended variants
information (count: 6245 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:6245 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571818903	chr5:180063273-180063274	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs573313595	chr5:180063370-180063371	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs537523765	chr5:180063371-180063372	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs112569798	chr5:180063407-180063408	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs542171686	chr5:180063414-180063415	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs188312397	chr5:180063428-180063429	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs180823878	chr5:180063458-180063459	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs572894789	chr5:180063459-180063460	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs553342294	chr5:180063478-180063479	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs571716945	chr5:180063541-180063542	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs540665826	chr5:180063551-180063552	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs114193487	chr5:180063558-180063559	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs186379730	chr5:180063611-180063612	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs72818984	chr5:180063614-180063615	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565367793	chr5:180063622-180063623	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs563520501	chr5:180063642-180063643	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs535583633	chr5:180063659-180063660	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs371573126	chr5:180063660-180063661	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs529033786	chr5:180063685-180063686	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs145754327	chr5:180063686-180063687	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs148231233	chr5:180063725-180063726	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs181990644	chr5:180063742-180063743	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs12654563	chr5:180063743-180063744	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571655629	chr5:180063762-180063763	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs112723202	chr5:180063771-180063772	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs550766856	chr5:180063786-180063787	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs191419769	chr5:180063805-180063806	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs141190817	chr5:180063806-180063807	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs386695789	chr5:180063823-180063824	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs573247561	chr5:180063824-180063825	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs370461015	chr5:180063857-180063858	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs182817282	chr5:180063864-180063865	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs35024214	chr5:180063906-180063907	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs150727551	chr5:180063952-180063953	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs577189846	chr5:180063982-180063983	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs113702127	chr5:180063983-180063984	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs530120459	chr5:180063999-180064000	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs542505279	chr5:180064191-180064192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547063223	chr5:180064192-180064193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559568920	chr5:180064204-180064205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528432745	chr5:180064222-180064223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373900681	chr5:180064244-180064245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377183860	chr5:180064284-180064285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35061103	chr5:180064294-180064295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187175450	chr5:180064307-180064308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567693488	chr5:180064322-180064323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375090031	chr5:180064331-180064332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189970344	chr5:180064342-180064343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530207277	chr5:180064345-180064346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375784808	chr5:180064347-180064348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	17440070	CNVD
Schizophrenia	21346763	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:4410 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180046200-180071800	Weak transcription	Liver	Liver
2	chr5:180046400-180072200	Weak transcription	Right Atrium	heart
3	chr5:180056800-180068400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:180059600-180065000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:180061200-180065000	Weak transcription	Left Ventricle	heart
6	chr5:180063000-180064000	Enhancers	Lung	lung
7	chr5:180063000-180064000	Enhancers	Spleen	Spleen
8	chr5:180063000-180064200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:180063200-180063400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:180063200-180063400	Enhancers	Fetal Muscle Leg	muscle
11	chr5:180063200-180063600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:180063200-180064200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:180063200-180064200	Enhancers	NH-A	brain
14	chr5:180063200-180064600	Enhancers	Right Ventricle	heart
15	chr5:180063400-180064000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr5:180063400-180064000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr5:180063600-180064000	Enhancers	Adipose Nuclei	Adipose
18	chr5:180064000-180065000	Weak transcription	Lung	lung
19	chr5:180064000-180066400	Weak transcription	Adipose Nuclei	Adipose
20	chr5:180064000-180066400	Weak transcription	Spleen	Spleen
21	chr5:180064200-180064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:180064600-180065600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:180064600-180066800	Weak transcription	Right Ventricle	heart
24	chr5:180065000-180065400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:180065000-180065400	Enhancers	Lung	lung
26	chr5:180065000-180065600	Enhancers	Left Ventricle	heart
27	chr5:180065000-180065800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr5:180065200-180065400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr5:180065400-180066600	Weak transcription	Lung	lung
30	chr5:180065400-180069600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:180065600-180065800	Enhancers	Esophagus	oesophagus
32	chr5:180065600-180066600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:180065600-180067000	Weak transcription	Left Ventricle	heart
34	chr5:180066400-180066600	Active TSS	Fetal Kidney	kidney
35	chr5:180066400-180067600	Enhancers	Adipose Nuclei	Adipose
36	chr5:180066400-180075600	Enhancers	Spleen	Spleen
37	chr5:180066600-180066800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr5:180066600-180067200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:180066600-180067200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:180066600-180067400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:180066600-180068600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr5:180066600-180068600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr5:180066600-180068800	Enhancers	Lung	lung
44	chr5:180066800-180067000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:180066800-180067000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr5:180066800-180067000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:180066800-180067200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:180066800-180067400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr5:180066800-180067400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:180066800-180067600	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links