Variant report

Variant	nsv949443
Chromosome Location	chr5:180144688-180503368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5048)
CpG islands
(count:8920)
Chromatin interactive
region (count:372)
LncRNA
region (count:120)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:5048 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180257705-180258044	GM12878	blood:	n/a	n/a
2	ATF2	chr5:180230642-180231278	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180212570-180213141	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:180237161-180237598	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:180496757-180497469	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:180237110-180237633	GM12878	blood:	n/a	n/a
7	ATF2	chr5:180295130-180295721	GM12878	blood:	n/a	n/a
8	ATF2	chr5:180247668-180248301	GM12878	blood:	n/a	chr5:180248216-180248227
9	ATF2	chr5:180287641-180288731	GM12878	blood:	n/a	n/a
10	ATF2	chr5:180232067-180232523	GM12878	blood:	n/a	n/a
11	ATF2	chr5:180496864-180497387	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:180288318-180288726	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr5:180258377-180258920	GM12878	blood:	n/a	n/a
14	ATF2	chr5:180144959-180145359	GM12878	blood:	n/a	n/a
15	ATF2	chr5:180212679-180213244	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr5:180259450-180260089	GM12878	blood:	n/a	n/a
17	ATF2	chr5:180230701-180231257	GM12878	blood:	n/a	n/a
18	ATF2	chr5:180236745-180237952	GM12878	blood:	n/a	n/a
19	ATF2	chr5:180257642-180258201	GM12878	blood:	n/a	n/a
20	ATF2	chr5:180241124-180241744	GM12878	blood:	n/a	n/a
21	ATF2	chr5:180287523-180287977	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr5:180300916-180301148	K562	blood:	n/a	n/a
23	ATF3	chr5:180300831-180301293	K562	blood:	n/a	n/a
24	ATF3	chr5:180258535-180258898	A549	lung:	n/a	n/a
25	ATF3	chr5:180237170-180237691	A549	lung:	n/a	n/a
26	ATF3	chr5:180455067-180455302	K562	blood:	n/a	n/a
27	ATF3	chr5:180266949-180267264	K562	blood:	n/a	n/a
28	BATF	chr5:180336078-180336346	GM12878	blood:	n/a	n/a
29	BATF	chr5:180300882-180301218	GM12878	blood:	n/a	n/a
30	BATF	chr5:180145061-180145379	GM12878	blood:	n/a	chr5:180145207-180145218
31	BATF	chr5:180295385-180295684	GM12878	blood:	n/a	n/a
32	BATF	chr5:180169789-180169977	GM12878	blood:	n/a	n/a
33	BATF	chr5:180295359-180295616	GM12878	blood:	n/a	n/a
34	BATF	chr5:180145040-180145312	GM12878	blood:	n/a	chr5:180145207-180145218
35	BATF	chr5:180300881-180301195	GM12878	blood:	n/a	n/a
36	BATF	chr5:180478040-180478275	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:180230806-180231108	GM12878	blood:	n/a	n/a
38	BCL11A	chr5:180145000-180145348	GM12878	blood:	n/a	chr5:180145235-180145244
39	BCL11A	chr5:180145100-180145299	GM12878	blood:	n/a	chr5:180145235-180145244
40	BCL11A	chr5:180232123-180232507	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
41	BCL11A	chr5:180232158-180232406	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
42	BCL11A	chr5:180402385-180402643	GM12878	blood:	n/a	chr5:180402541-180402550
43	BCL11A	chr5:180478063-180478283	GM12878	blood:	n/a	n/a
44	BCL11A	chr5:180230781-180231384	GM12878	blood:	n/a	n/a
45	BCL11A	chr5:180472725-180473350	GM12878	blood:	n/a	n/a
46	BCL11A	chr5:180472807-180473297	GM12878	blood:	n/a	n/a
47	BCL3	chr5:180237078-180237785	A549	lung:	n/a	n/a
48	BCL3	chr5:180258428-180258981	A549	lung:	n/a	n/a
49	BCL3	chr5:180287597-180288561	A549	lung:	n/a	chr5:180288052-180288061 chr5:180287721-180287730
50	BCL3	chr5:180229004-180229979	A549	lung:	n/a	chr5:180229768-180229781

(count:8920 , 50 per page) page: 1 2 3 4 5 6 7 ... 179

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180233833-180233883	CMK	blood:	n/a
2	chr5:180231194-180231244	U87	brain:	n/a
3	chr5:180325969-180326019	Hepatocyte	liver:	n/a
4	chr5:180487084-180487134	H1-hESC	embryonic stem cell:	embryo
5	chr5:180326142-180326192	BJ	skin:	n/a
6	chr5:180325969-180326019	IMR90	lung:	fetal
7	chr5:180288206-180288256	GM12891	blood:	n/a
8	chr5:180396687-180396737	A549	lung:	n/a
9	chr5:180288855-180288905	NHDF-neo	bronchial:	n/a
10	chr5:180237085-180237135	ovcar-3	ovarian:	n/a
11	chr5:180433174-180433224	MCF-7	breast:	n/a
12	chr5:180218509-180218559	HEEpiC	esophagus:	n/a
13	chr5:180229164-180229214	BE2_C	brain:	n/a
14	chr5:180248018-180248068	SK-N-SH_RA	brain:	n/a
15	chr5:180233833-180233883	CMK	blood:	n/a
16	chr5:180231194-180231244	U87	brain:	n/a
17	chr5:180325969-180326019	Hepatocyte	liver:	n/a
18	chr5:180487084-180487134	H1-hESC	embryonic stem cell:	embryo
19	chr5:180326142-180326192	BJ	skin:	n/a
20	chr5:180325969-180326019	IMR90	lung:	fetal
21	chr5:180288206-180288256	GM12891	blood:	n/a
22	chr5:180396687-180396737	A549	lung:	n/a
23	chr5:180288855-180288905	NHDF-neo	bronchial:	n/a
24	chr5:180237085-180237135	ovcar-3	ovarian:	n/a
25	chr5:180433174-180433224	MCF-7	breast:	n/a
26	chr5:180218509-180218559	HEEpiC	esophagus:	n/a
27	chr5:180229164-180229214	BE2_C	brain:	n/a
28	chr5:180248018-180248068	SK-N-SH_RA	brain:	n/a
29	chr5:180256781-180256831	AG09309	skin:	n/a
30	chr5:180220005-180220055	MCF10A-Er-Src	breast:	n/a
31	chr5:180479622-180479672	PFSK-1	brain:	n/a
32	chr5:180479622-180479672	NH-A	brain:	n/a
33	chr5:180466975-180467025	SAEC	small airway:	n/a
34	chr5:180479829-180479879	SKMC	muscle:	n/a
35	chr5:180167724-180167774	HMEC	breast:	n/a
36	chr5:180476573-180476623	HCM	heart:	n/a
37	chr5:180467044-180467094	PANC-1	pancreas:	n/a
38	chr5:180478185-180478235	SK-N-SH	brain:	n/a
39	chr5:180244832-180244882	SK-N-SH_RA	brain:	n/a
40	chr5:180230911-180230961	GM19239	blood:	n/a
41	chr5:180486787-180486837	Hepatocyte	liver:	n/a
42	chr5:180231084-180231134	HCF	heart:	n/a
43	chr5:180325254-180325304	Hepatocyte	liver:	n/a
44	chr5:180288206-180288256	GM12878	blood:	n/a
45	chr5:180235800-180235850	HCF	heart:	n/a
46	chr5:180396687-180396737	T-47D	breast:	n/a
47	chr5:180460230-180460280	PANC-1	pancreas:	n/a
48	chr5:180460230-180460280	SK-N-MC	brain:	n/a
49	chr5:180429512-180429562	NHDF-neo	bronchial:	n/a
50	chr5:180480817-180480867	SK-N-MC	brain:	n/a

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr5:180470598..180472101-chr5:180484041..180485663,2	MCF-7	breast:
2	chr5:180235864..180238260-chr5:180278137..180284773,8	MCF-7	breast:
3	chr5:180284217..180286788-chr5:180453751..180456336,2	K562	blood:
4	chr5:180294928..180297371-chr5:180462851..180465592,2	K562	blood:
5	chr5:180326248..180328763-chr5:180336023..180337765,2	MCF-7	breast:
6	chr5:180261765..180263546-chr5:180263773..180266273,2	K562	blood:
7	chr5:180299186..180302514-chr5:180453782..180456636,3	K562	blood:
8	chr5:180472725..180474956-chr5:180608449..180611387,2	K562	blood:
9	chr5:180288754..180291107-chr5:180359607..180361510,2	K562	blood:
10	chr5:180202113..180204208-chr5:180208493..180210882,2	K562	blood:
11	chr5:180444390..180447101-chr5:180453426..180455579,3	K562	blood:
12	chr5:180445578..180447116-chr5:180456008..180457660,2	K562	blood:
13	chr11:67396772..67397765-chr5:180236385..180237144,2	Hela-S3	cervix:
14	chr5:180211281..180211887-chr5:180586366..180586939,2	MCF-7	breast:
15	chr5:180256399..180259891-chr5:180287425..180289762,3	K562	blood:
16	chr5:180453053..180457005-chr5:180460749..180465255,4	K562	blood:
17	chr5:180171538..180174150-chr5:180179388..180180987,2	K562	blood:
18	chr12:53294842..53296821-chr5:180286153..180288679,2	MCF-7	breast:
19	chr5:180459598..180461498-chr5:180475075..180477832,2	K562	blood:
20	chr5:180256272..180261271-chr5:180284313..180290761,15	MCF-7	breast:
21	chr5:180414940..180417319-chr5:180418423..180420392,2	MCF-7	breast:
22	chr5:180217057..180217623-chr5:180228458..180229188,2	MCF-7	breast:
23	chr5:180208930..180211085-chr5:180226767..180229407,2	K562	blood:
24	chr5:180236252..180239102-chr5:180648903..180651470,3	MCF-7	breast:
25	chr5:180288449..180290237-chr5:180454877..180456790,2	K562	blood:
26	chr5:180295519..180296628-chr5:180577771..180578836,5	MCF-7	breast:
27	chr5:180235689..180238475-chr5:180301154..180303710,3	K562	blood:
28	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
29	chr5:180262664..180264949-chr5:180267112..180269108,2	K562	blood:
30	chr5:180235849..180243122-chr5:180284007..180290583,16	MCF-7	breast:
31	chr5:180235042..180237389-chr5:180478228..180480101,2	K562	blood:
32	chr5:180247524..180249478-chr5:180249893..180253077,3	MCF-7	breast:
33	chr5:180228019..180233439-chr5:180285963..180289843,10	MCF-7	breast:
34	chr5:180235755..180238174-chr5:180477599..180480033,2	MCF-7	breast:
35	chr5:180227414..180232885-chr5:180286019..180290085,8	K562	blood:
36	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
37	chr5:180223525..180226490-chr5:180609242..180611026,2	K562	blood:
38	chr5:180282542..180284209-chr5:180286607..180288204,2	K562	blood:
39	chr5:180236072..180238455-chr5:180650563..180652075,2	K562	blood:
40	chr5:180228465..180230563-chr5:180681339..180683622,2	MCF-7	breast:
41	chr2:9695778..9696324-chr5:180236830..180237498,2	Hela-S3	cervix:
42	chr5:180288846..180290672-chr5:180465658..180468307,2	K562	blood:
43	chr5:180453342..180456160-chr5:180457547..180460294,4	K562	blood:
44	chr5:180235524..180237646-chr5:180274342..180276820,3	K562	blood:
45	chr5:180484920..180486712-chr5:180495853..180498417,3	K562	blood:
46	chr5:180236869..180238700-chr5:180478692..180481089,2	MCF-7	breast:
47	chr5:180295710..180296339-chr5:180482283..180482883,2	MCF-7	breast:
48	chr5:180459077..180461644-chr5:180478669..180480869,2	K562	blood:
49	chr5:180451742..180457321-chr5:180459173..180464376,7	K562	blood:
50	chr5:180237463..180239792-chr5:180299138..180300756,2	K562	blood:

(count:120 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTNL8-3	chr5:180258759-180258941	ENSG00000245060
2	lnc-BTNL3-2	chr5:180480469-180480501	NONHSAT105861
3	lnc-BTNL8-3	chr5:180257957-180258229	NR_045679
4	lnc-ZFP62-1	chr5:180262054-180262712	XLOC_005111
5	lnc-OR2Y1-2	chr5:180189565-180191201	ucscGeneNc_uc003mmj_1
6	lnc-MGAT1-2	chr5:180255226-180255255	XLOC_005110
7	lnc-ZFP62-3	chr5:180242414-180242541	NONHSAT105814
8	lnc-ZFP62-3	chr5:180237040-180237440	NONHSAT105818
9	lnc-BTNL8-3	chr5:180258736-180258971	NONHSAT105843
10	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
11	lnc-BTNL8-6	chr5:180237297-180238375	NONHSAT105819
12	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105838
13	lnc-BTNL8-7	chr5:180230568-180230967	l_3082_chr5:180229467-180230967_thyroid
14	lnc-ZFP62-3	chr5:180235841-180236076	NONHSAT105816
15	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
16	lnc-BTNL8-3	chr5:180258736-180258941	NR_027183
17	lnc-BTNL8-1	chr5:180297962-180298361	XLOC_004685
18	lnc-ZFP62-2	chr5:180287528-180287684	NONHSAT105847
19	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
20	lnc-MGAT1-2	chr5:180257708-180258941	XLOC_005110
21	lnc-MGAT1-2	chr5:180257708-180258941	XLOC_005110
22	lnc-MGAT1-2	chr5:180256937-180257406	XLOC_005110
23	lnc-BTNL8-3	chr5:180261312-180262726	NR_045679
24	lnc-MGAT1-2	chr5:180257708-180258290	XLOC_005110
25	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105847
26	lnc-BTNL8-3	chr5:180261312-180261779	ENSG00000245060
27	lnc-BTNL3-2	chr5:180482433-180483015	NONHSAT105863
28	lnc-BTNL8-3	chr5:180256959-180258806	NONHSAT105837
29	lnc-MGAT1-2	chr5:180256804-180257403	XLOC_005110
30	lnc-ZFP62-3	chr5:180235526-180235594	NONHSAT105811
31	lnc-ZFP62-3	chr5:180237192-180237503	NONHSAT105812
32	lnc-ZFP62-3	chr5:180236014-180236076	NONHSAT105818
33	lnc-ZFP62-3	chr5:180237729-180237938	NONHSAT105815
34	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105838
35	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105839
36	lnc-ZFP62-2	chr5:180278988-180279060	NONHSAT105846
37	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105840
38	lnc-BTNL8-3	chr5:180259673-180259860	NR_045679
39	lnc-MGAT1-2	chr5:180257608-180258229	XLOC_005110
40	lnc-ZFP62-3	chr5:180242414-180242652	NONHSAT105816
41	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105842
42	lnc-BTNL8-4	chr5:180394848-180395567	NONHSAT105854
43	lnc-BTNL3-2	chr5:180486237-180486312	NONHSAT105863
44	lnc-MGAT1-2	chr5:180256956-180257430	ENSG00000249705
45	lnc-OR2Y1-1	chr5:180155280-180155484	expReg_chr5_11028_-
46	lnc-ZFP62-3	chr5:180235841-180236075	NONHSAT105815
47	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105839
48	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105836
49	lnc-BTNL8-8	chr5:180192279-180192466	ucscGeneNc_uc003mmk_2
50	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105847

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8089	chr5:180470413-180470436	MIMAT0031016

No data

Variant related genes	Relation type
LINC00847	TF binding region
BTNL8	TF binding region
ENSG00000222852	TF binding region
ENSG00000231228	TF binding region
ENSG00000248761	TF binding region
RNU6-1036P	TF binding region
ZFP62	TF binding region
RNU1-17P	TF binding region
MGAT1	TF binding region
ENSG00000249287	TF binding region
ENSG00000260841	TF binding region
RPS29P12	TF binding region
BTNL9	TF binding region
OR2Y1	TF binding region
ENSG00000241870	TF binding region
BTNL3	TF binding region
LINC00847	CpG island
BTNL8	CpG island
ENSG00000222852	CpG island
ENSG00000231228	CpG island
ENSG00000248761	CpG island
RNU6-1036P	CpG island
ZFP62	CpG island
RNU1-17P	CpG island
MGAT1	CpG island
ENSG00000249287	CpG island
ENSG00000260841	CpG island
RPS29P12	CpG island
BTNL9	CpG island
OR2Y1	CpG island
ENSG00000241870	CpG island
BTNL3	CpG island
ENSG00000131446	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000113303	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000259826	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000206686	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000268397	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000182613	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000250900	chromatin interactions
ENSG00000081791	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000222852	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000243664	chromatin interactions
ENSG00000215256	chromatin interactions
ENSG00000272296	chromatin interactions
ENSG00000199892	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000241870	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000114209	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000168903	chromatin interactions
ENSG00000159110	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000157326	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000248514	chromatin interactions
NIN	miRNA target sites
IL1B	miRNA target sites
HEBP2	miRNA target sites
SHOC2	miRNA target sites
TGFB2	miRNA target sites
WTAP	miRNA target sites
CDC34	miRNA target sites
BTG2	miRNA target sites
DMXL1	miRNA target sites
CCDC76	miRNA target sites
SOCS5	miRNA target sites
RNF141	miRNA target sites
CCNJ	miRNA target sites
ASCC3	miRNA target sites
RNF144A	miRNA target sites
SOS2	miRNA target sites
CLINT1	miRNA target sites
ZNF785	miRNA target sites
CHD9	miRNA target sites

Extended variants
information (count: 11915 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:11915 , 50 per page) page: 1 2 3 4 5 6 7 ... 239

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1484074	chr5:180144688-180144689	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146198222	chr5:180144727-180144728	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368038759	chr5:180144779-180144780	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549293217	chr5:180144788-180144789	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566026486	chr5:180144812-180144813	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191723641	chr5:180144862-180144863	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183957627	chr5:180144883-180144884	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547199549	chr5:180144909-180144910	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567079534	chr5:180144930-180144931	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139114645	chr5:180145097-180145098	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539289787	chr5:180145120-180145121	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537703068	chr5:180145163-180145164	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6895495	chr5:180145207-180145208	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555904530	chr5:180145208-180145209	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575966784	chr5:180145358-180145359	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541436314	chr5:180145366-180145367	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554632181	chr5:180145411-180145412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58367431	chr5:180145444-180145445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528253253	chr5:180145445-180145446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569188251	chr5:180145470-180145471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146039734	chr5:180145483-180145484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202178792	chr5:180145489-180145490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186819261	chr5:180145493-180145494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116749822	chr5:180145518-180145519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563891023	chr5:180145580-180145581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191195456	chr5:180145586-180145587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184165276	chr5:180145668-180145669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537068148	chr5:180145714-180145715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78421150	chr5:180145731-180145732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79125018	chr5:180145825-180145826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529322543	chr5:180145858-180145859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376073493	chr5:180145880-180145881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549099965	chr5:180145897-180145898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34736241	chr5:180145901-180145902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7720914	chr5:180145979-180145980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs74575711	chr5:180145985-180145986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552015581	chr5:180145991-180145992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145096445	chr5:180146059-180146060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571837088	chr5:180146076-180146077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200807466	chr5:180146077-180146078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35004651	chr5:180146099-180146100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35907058	chr5:180146133-180146134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537764816	chr5:180146143-180146144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557660603	chr5:180146310-180146311	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567847002	chr5:180146360-180146361	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535470434	chr5:180146377-180146378	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs190722729	chr5:180146463-180146464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571810960	chr5:180146511-180146512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540684526	chr5:180146514-180146515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11741741	chr5:180146547-180146548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:117)

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
early-passage human iPS cells	21368824	CNVD
Cancer	17440070	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	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
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6795 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180144600-180145400	Bivalent Enhancer	Primary T cells from cord blood	blood
2	chr5:180144600-180146600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr5:180144800-180146200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr5:180144800-180146200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr5:180144800-180146400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:180144800-180146400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:180144800-180146400	Enhancers	Fetal Thymus	thymus
8	chr5:180144800-180146400	Enhancers	Dnd41	blood
9	chr5:180144800-180146800	Enhancers	GM12878-XiMat	blood
10	chr5:180145000-180146200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:180145200-180146200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:180146000-180146200	Enhancers	Fetal Kidney	kidney
13	chr5:180146000-180146400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:180146200-180147800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:180147600-180147800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:180147600-180147800	Enhancers	Fetal Thymus	thymus
17	chr5:180148000-180148200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:180150000-180150400	Active TSS	Spleen	Spleen
19	chr5:180151000-180151200	Enhancers	Dnd41	blood
20	chr5:180153200-180154000	Enhancers	Primary T cells from cord blood	blood
21	chr5:180153400-180153800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:180153400-180154000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr5:180153600-180153800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr5:180155200-180155400	Bivalent Enhancer	Esophagus	oesophagus
25	chr5:180155200-180155400	Enhancers	Gastric	stomach
26	chr5:180165200-180170800	Weak transcription	Right Atrium	heart
27	chr5:180166600-180166800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:180166600-180167600	Enhancers	HSMMtube	muscle
29	chr5:180169800-180170000	Bivalent Enhancer	K562	blood
30	chr5:180196600-180197200	Enhancers	HepG2	liver
31	chr5:180202000-180202800	Enhancers	K562	blood
32	chr5:180202800-180203000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:180202800-180206000	Weak transcription	K562	blood
34	chr5:180203000-180212400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:180204400-180215400	Weak transcription	Primary B cells from cord blood	blood
36	chr5:180205200-180209800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:180205600-180211800	Weak transcription	Liver	Liver
38	chr5:180205800-180212400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:180206000-180208400	Enhancers	K562	blood
40	chr5:180206000-180212200	Weak transcription	Lung	lung
41	chr5:180206200-180209800	Weak transcription	Primary T cells from cord blood	blood
42	chr5:180206600-180212400	Weak transcription	Aorta	Aorta
43	chr5:180206800-180210800	Weak transcription	Esophagus	oesophagus
44	chr5:180207000-180207200	Enhancers	Right Atrium	heart
45	chr5:180207000-180214600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:180207200-180212200	Weak transcription	Right Atrium	heart
47	chr5:180207200-180212400	Weak transcription	Fetal Intestine Large	intestine
48	chr5:180207800-180210800	Weak transcription	Placenta	Placenta
49	chr5:180208000-180212000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:180208000-180212400	Weak transcription	Psoas Muscle	Psoas

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