Variant report

Variant	nsv1002674
Chromosome Location	chr4:48507608-49032909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6615)
CpG islands
(count:4402)
Chromatin interactive
region (count:358)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6615 , 50 per page) page: 1 2 3 4 5 6 7 ... 133

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:48780185-48780773	K562	blood:	n/a	chr4:48780342-48780358
2	ARID3A	chr4:48741003-48741162	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:48832949-48833248	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:48965071-48965451	K562	blood:	n/a	n/a
5	ARID3A	chr4:48741537-48742064	K562	blood:	n/a	n/a
6	ARID3A	chr4:48580424-48580701	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:48700373-48700768	K562	blood:	n/a	n/a
8	ARID3A	chr4:48806867-48807112	HepG2	liver:	n/a	n/a
9	ARID3A	chr4:48669405-48669518	K562	blood:	n/a	n/a
10	ARID3A	chr4:48781608-48781746	HepG2	liver:	n/a	n/a
11	ARID3A	chr4:48834700-48834957	K562	blood:	n/a	n/a
12	ARID3A	chr4:48701999-48702183	K562	blood:	n/a	n/a
13	ARID3A	chr4:48781987-48783049	HepG2	liver:	n/a	n/a
14	ARID3A	chr4:48625367-48625761	HepG2	liver:	n/a	n/a
15	ARID3A	chr4:48781053-48781304	K562	blood:	n/a	n/a
16	ARID3A	chr4:48628294-48628494	K562	blood:	n/a	n/a
17	ARID3A	chr4:48597297-48597435	K562	blood:	n/a	n/a
18	ARID3A	chr4:48900896-48901613	K562	blood:	n/a	n/a
19	ARID3A	chr4:48911807-48911825	K562	blood:	n/a	n/a
20	ARID3A	chr4:48689608-48689783	K562	blood:	n/a	n/a
21	ARID3A	chr4:48720801-48721430	HepG2	liver:	n/a	n/a
22	ARID3A	chr4:48731313-48731501	K562	blood:	n/a	n/a
23	ARID3A	chr4:48533201-48533219	K562	blood:	n/a	n/a
24	ARID3A	chr4:48782070-48782746	K562	blood:	n/a	n/a
25	ARID3A	chr4:48855685-48856516	K562	blood:	n/a	n/a
26	ARID3A	chr4:48949857-48949997	K562	blood:	n/a	n/a
27	ARID3A	chr4:48625256-48625761	K562	blood:	n/a	n/a
28	ARID3A	chr4:48728717-48728995	K562	blood:	n/a	n/a
29	ARID3A	chr4:48907437-48907684	HepG2	liver:	n/a	n/a
30	ARID3A	chr4:48605411-48605798	HepG2	liver:	n/a	n/a
31	ARID3A	chr4:48779668-48779711	K562	blood:	n/a	n/a
32	ARID3A	chr4:48902033-48902294	K562	blood:	n/a	n/a
33	ARID3A	chr4:48593472-48593744	K562	blood:	n/a	n/a
34	ARID3A	chr4:48965068-48965466	HepG2	liver:	n/a	n/a
35	ARID3A	chr4:48742647-48743070	K562	blood:	n/a	n/a
36	ARID3A	chr4:48685726-48686787	K562	blood:	n/a	n/a
37	ARID3A	chr4:48682969-48684161	K562	blood:	n/a	chr4:48683524-48683540
38	ATF1	chr4:48683063-48683464	K562	blood:	n/a	n/a
39	ATF1	chr4:48631400-48631866	K562	blood:	n/a	n/a
40	ATF1	chr4:48741571-48741881	K562	blood:	n/a	n/a
41	ATF1	chr4:48965057-48965395	K562	blood:	n/a	n/a
42	ATF1	chr4:48700313-48700663	K562	blood:	n/a	n/a
43	ATF1	chr4:48832819-48833539	K562	blood:	n/a	n/a
44	ATF1	chr4:48911677-48911998	K562	blood:	n/a	n/a
45	ATF1	chr4:48740483-48740490	K562	blood:	n/a	n/a
46	ATF1	chr4:48782242-48782757	K562	blood:	n/a	n/a
47	ATF1	chr4:48702001-48702239	K562	blood:	n/a	n/a
48	ATF1	chr4:48685798-48686486	K562	blood:	n/a	n/a
49	ATF1	chr4:48901179-48901510	K562	blood:	n/a	n/a
50	ATF1	chr4:48625474-48625805	K562	blood:	n/a	n/a

(count:4402 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:48833004-48833054	SAEC	small airway:	n/a
2	chr4:48988321-48988371	IMR90	lung:	fetal
3	chr4:48908833-48908883	NT2-D1	testis:	n/a
4	chr4:48970898-48970948	BJ	skin:	n/a
5	chr4:48782551-48782601	RPTEC	kidney:	n/a
6	chr4:48833587-48833637	GM12892	blood:	n/a
7	chr4:48782043-48782093	AG04450	lung:	fetal
8	chr4:48785918-48785968	PANC-1	pancreas:	n/a
9	chr4:48912027-48912077	HNPCEpiC	eye:	n/a
10	chr4:48908902-48908952	HCPEpiC	choroid plexus:	n/a
11	chr4:48833004-48833054	SAEC	small airway:	n/a
12	chr4:48988321-48988371	IMR90	lung:	fetal
13	chr4:48908833-48908883	NT2-D1	testis:	n/a
14	chr4:48970898-48970948	BJ	skin:	n/a
15	chr4:48782551-48782601	RPTEC	kidney:	n/a
16	chr4:48833587-48833637	GM12892	blood:	n/a
17	chr4:48782043-48782093	AG04450	lung:	fetal
18	chr4:48785918-48785968	PANC-1	pancreas:	n/a
19	chr4:48912027-48912077	HNPCEpiC	eye:	n/a
20	chr4:48908902-48908952	HCPEpiC	choroid plexus:	n/a
21	chr4:48988066-48988116	Hepatocyte	liver:	n/a
22	chr4:48832808-48832858	ProgFib	skin:	n/a
23	chr4:48988321-48988371	ECC-1	luminal epithelium:	n/a
24	chr4:48781911-48781961	NT2-D1	testis:	n/a
25	chr4:48988124-48988174	U87	brain:	n/a
26	chr4:48988015-48988065	ProgFib	skin:	n/a
27	chr4:48988801-48988851	HEK293	kidney:	embryo
28	chr4:48833056-48833106	Hepatocyte	liver:	n/a
29	chr4:48833095-48833145	GM12892	blood:	n/a
30	chr4:48832952-48833002	A549	lung:	n/a
31	chr4:48782334-48782384	NHBE	bronchial:	n/a
32	chr4:48988038-48988088	PrEC	prostate:	n/a
33	chr4:48988124-48988174	NB4	blood:	n/a
34	chr4:48833388-48833438	Hepatocyte	liver:	n/a
35	chr4:48781332-48781382	MCF-7	breast:	n/a
36	chr4:48754953-48755003	NHDF-neo	bronchial:	n/a
37	chr4:48909110-48909160	HCT-116	colon:	n/a
38	chr4:48833193-48833243	RPTEC	kidney:	n/a
39	chr4:48833004-48833054	GM19239	blood:	n/a
40	chr4:48832605-48832655	CMK	blood:	n/a
41	chr4:48782338-48782388	HRPEpiC	eye:	n/a
42	chr4:48782139-48782189	MCF10A-Er-Src	breast:	n/a
43	chr4:48984176-48984226	GM12892	blood:	n/a
44	chr4:48833130-48833180	HCT-116	colon:	n/a
45	chr4:48833292-48833342	HPAEpiC	pulmonary alveolar:	n/a
46	chr4:48908696-48908746	GM19239	blood:	n/a
47	chr4:48833130-48833180	ECC-1	luminal epithelium:	n/a
48	chr4:48695242-48695292	HUVEC	blood vessel:	n/a
49	chr4:48782139-48782189	LNCaP	prostate:	n/a
50	chr4:48912027-48912077	HEK293	kidney:	embryo

(count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr4:48828892..48830738-chr4:48832292..48835098,3	MCF-7	breast:
2	chr4:48854818..48855394-chr4:48956501..48957225,3	MCF-7	breast:
3	chr4:48505446..48507840-chr4:48520996..48523756,2	K562	blood:
4	chr4:48626369..48628098-chr4:48781487..48784150,2	MCF-7	breast:
5	chr4:48782469..48785403-chr4:48787452..48790375,2	MCF-7	breast:
6	chr4:48781641..48784567-chr4:48855819..48858602,2	MCF-7	breast:
7	chr4:48628287..48631259-chr4:48635735..48637672,2	MCF-7	breast:
8	chr4:48492886..48494734-chr4:48535449..48537970,2	K562	blood:
9	chr4:48832329..48839135-chr4:48842644..48848925,12	K562	blood:
10	chr4:48691459..48694072-chr4:48776269..48778861,2	K562	blood:
11	chr4:48945599..48951626-chr4:48954985..48958451,5	MCF-7	breast:
12	chr4:48814564..48816145-chr4:48829057..48831720,2	K562	blood:
13	chr13:21714238..21715079-chr4:48907831..48908602,2	Hela-S3	cervix:
14	chr4:48700621..48702937-chr4:48705459..48707096,2	MCF-7	breast:
15	chr4:48964805..48966894-chr4:48969035..48971406,2	K562	blood:
16	chr4:48772195..48774601-chr4:48832586..48834543,2	K562	blood:
17	chr4:48815810..48819450-chr4:48830474..48834257,5	K562	blood:
18	chr4:48809307..48810887-chr4:48829493..48831346,2	K562	blood:
19	chr4:48965209..48965738-chr4:49030225..49031079,2	MCF-7	breast:
20	chr4:48854874..48857158-chr4:48907374..48909489,2	MCF-7	breast:
21	chr4:48946560..48948277-chr4:48957901..48960344,2	K562	blood:
22	chr4:48756947..48759205-chr4:48760988..48763771,2	MCF-7	breast:
23	chr4:48725723..48728772-chr4:48781699..48784072,3	MCF-7	breast:
24	chr4:48772120..48774246-chr4:48777185..48779870,3	MCF-7	breast:
25	chr4:48832331..48834187-chr4:48907329..48910001,2	MCF-7	breast:
26	chr4:48780865..48784136-chr4:48796375..48799379,4	K562	blood:
27	chr4:48749888..48752045-chr4:48754340..48756455,2	K562	blood:
28	chr4:48544798..48547202-chr4:48547585..48550230,2	MCF-7	breast:
29	chr4:48531467..48532998-chr4:48535012..48537828,2	K562	blood:
30	chr4:48580476..48581095-chr4:48946367..48946964,2	K562	blood:
31	chr4:48772504..48776956-chr4:48777763..48782974,9	K562	blood:
32	chr4:48684102..48685627-chr4:48698753..48700458,2	K562	blood:
33	chr4:48579089..48581079-chr4:48904925..48906669,3	MCF-7	breast:
34	chr4:48831616..48834377-chr4:48906971..48910422,3	MCF-7	breast:
35	chr4:48862851..48865784-chr4:48884723..48887077,2	MCF-7	breast:
36	chr4:48699623..48702132-chr4:48702246..48704804,2	K562	blood:
37	chr4:48683162..48685673-chr4:48779626..48783041,3	MCF-7	breast:
38	chr4:48964805..48966894-chr4:48969035..48971406,2	K562	blood:
39	chr4:48835128..48837334-chr4:48839249..48842163,4	K562	blood:
40	chr4:48855501..48858048-chr4:48873301..48875747,2	K562	blood:
41	chr4:48575741..48577955-chr4:48579007..48580863,2	K562	blood:
42	chr4:48965278..48967505-chr4:48968176..48969778,2	K562	blood:
43	chr4:48702489..48705093-chr4:48707646..48709743,2	MCF-7	breast:
44	chr4:48831337..48833457-chr4:48856864..48859835,2	MCF-7	breast:
45	chr4:48577348..48579735-chr4:48781107..48783009,2	MCF-7	breast:
46	chr4:48686253..48688123-chr4:48780643..48783214,2	MCF-7	breast:
47	chr4:48907293..48908938-chr4:48926882..48929492,3	MCF-7	breast:
48	chr4:48906931..48910301-chr4:48958614..48962383,3	MCF-7	breast:
49	chr4:48896623..48898148-chr4:48938034..48940839,2	MCF-7	breast:
50	chr4:48940697..48943486-chr4:48944101..48946747,2	K562	blood:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OCIAD2-3	chr4:48636435-48636507	NONHSAT096291
2	lnc-OCIAD2-3	chr4:48686690-48686812	NONHSAT096293
3	lnc-OCIAD2-3	chr4:48686690-48686812	NONHSAT096291
4	lnc-CWH43-1	chr4:48938599-48938897	NONHSAT096305
5	lnc-OCIAD2-3	chr4:48636435-48636507	NONHSAT096290
6	lnc-CWH43-3	chr4:48862742-48862876	NONHSAT096297
7	lnc-OCIAD2-1	chr4:48854025-48854242	ENSG00000248256.1
8	lnc-OCIAD2-3	chr4:48686690-48686812	NONHSAT096292
9	lnc-OCIAD2-3	chr4:48782095-48782288	NONHSAT096292
10	lnc-CWH43-3	chr4:48854209-48854521	NONHSAT096297
11	lnc-OCIAD2-3	chr4:48638867-48640580	NONHSAT096292
12	lnc-OCIAD2-1	chr4:48862174-48862220	ENSG00000248256.1
13	lnc-OCIAD2-3	chr4:48782095-48782284	NONHSAT096290
14	lnc-OCIAD2-3	chr4:48782095-48782146	NONHSAT096293
15	lnc-OCIAD2-3	chr4:48712536-48712715	NONHSAT096290
16	lnc-OCIAD2-3	chr4:48712536-48712715	NONHSAT096293
17	lnc-OCIAD2-3	chr4:48647986-48648034	NONHSAT096293
18	lnc-OCIAD2-3	chr4:48782095-48782339	NONHSAT096291
19	lnc-OCIAD2-3	chr4:48729448-48729508	NONHSAT096293

No data

Variant related genes	Relation type
RNU6-158P	TF binding region
TPI1P4	TF binding region
OCIAD2	TF binding region
OCIAD1	TF binding region
FRYL	TF binding region
OCIAD1-AS1	TF binding region
ENSG00000251334	TF binding region
CWH43	TF binding region
RNU5E-3P	TF binding region
RNU6-158P	CpG island
TPI1P4	CpG island
OCIAD2	CpG island
OCIAD1	CpG island
FRYL	CpG island
OCIAD1-AS1	CpG island
ENSG00000251334	CpG island
CWH43	CpG island
RNU5E-3P	CpG island
ENSG00000147162	chromatin interactions
ENSG00000150459	chromatin interactions
ENSG00000248256	chromatin interactions
ENSG00000075539	chromatin interactions
ENSG00000114982	chromatin interactions
ENSG00000109171	chromatin interactions
ENSG00000251334	chromatin interactions
ENSG00000252913	chromatin interactions
ENSG00000185238	chromatin interactions
ENSG00000145248	chromatin interactions
ENSG00000145247	chromatin interactions
ENSG00000109182	chromatin interactions
ENSG00000109180	chromatin interactions
ENSG00000143970	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000251722	chromatin interactions
ENSG00000134294	chromatin interactions

Extended variants
information (count: 18119 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:18119 , 50 per page) page: 1 2 3 4 5 6 7 ... 363

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77168578	chr4:48507619-48507620	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs376757426	chr4:48507653-48507654	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs371365219	chr4:48507654-48507655	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs373499235	chr4:48507678-48507679	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs569936469	chr4:48507689-48507690	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs537214925	chr4:48507701-48507702	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs555651470	chr4:48507725-48507726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs144650786	chr4:48507774-48507775	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs371682656	chr4:48507783-48507784	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs574228958	chr4:48507803-48507804	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567911482	chr4:48507876-48507877	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553325104	chr4:48507898-48507899	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs578063919	chr4:48507968-48507969	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545499089	chr4:48508017-48508018	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191110149	chr4:48508035-48508036	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs183372648	chr4:48508038-48508039	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs377556950	chr4:48508129-48508130	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374109814	chr4:48508152-48508153	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188356660	chr4:48508184-48508185	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192034129	chr4:48508199-48508200	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183228714	chr4:48508367-48508368	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs187990914	chr4:48508368-48508369	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531952883	chr4:48508382-48508383	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs145501655	chr4:48508401-48508402	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs71614042	chr4:48508465-48508466	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs76495515	chr4:48508474-48508475	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542835520	chr4:48508560-48508561	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs555925591	chr4:48508632-48508633	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs199622048	chr4:48508633-48508634	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs367871273	chr4:48508653-48508654	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs370320468	chr4:48508654-48508655	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs551592142	chr4:48508665-48508666	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs397993295	chr4:48508685-48508686	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191300037	chr4:48508756-48508757	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs561023981	chr4:48508797-48508798	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs567905453	chr4:48508858-48508859	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs368399354	chr4:48508930-48508931	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs559974899	chr4:48508980-48508981	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs535314815	chr4:48509038-48509039	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs6447641	chr4:48509050-48509051	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs183730859	chr4:48509056-48509057	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540613276	chr4:48509064-48509065	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs147691586	chr4:48509075-48509076	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565182330	chr4:48509095-48509096	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs544312735	chr4:48509147-48509148	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575803325	chr4:48509194-48509195	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs542880432	chr4:48509252-48509253	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370626081	chr4:48509258-48509259	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs527410662	chr4:48509332-48509333	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs6810558	chr4:48509335-48509336	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	20952505	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11791 , 50 per page) page: 1 2 3 4 5 6 7 ... 236

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48492600-48510600	Weak transcription	HepG2	liver
2	chr4:48493600-48509200	Weak transcription	Pancreas	Pancrea
3	chr4:48493600-48510600	Weak transcription	Gastric	stomach
4	chr4:48493600-48523000	Weak transcription	Right Ventricle	heart
5	chr4:48493800-48509600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:48493800-48510600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:48494000-48511600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:48494000-48511800	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:48494200-48509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:48494200-48510600	Weak transcription	HSMMtube	muscle
11	chr4:48494800-48509400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:48494800-48510600	Weak transcription	Esophagus	oesophagus
13	chr4:48495000-48510000	Weak transcription	Brain Germinal Matrix	brain
14	chr4:48495200-48513600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:48495400-48523000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:48495600-48509600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:48495600-48509800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:48495800-48511600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:48496200-48540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:48496400-48510600	Weak transcription	Small Intestine	intestine
21	chr4:48496800-48511400	Weak transcription	Fetal Heart	heart
22	chr4:48497000-48521600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:48497200-48507800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:48497600-48509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:48497800-48509200	Weak transcription	Psoas Muscle	Psoas
26	chr4:48498000-48507800	Weak transcription	Lung	lung
27	chr4:48498200-48539600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr4:48498200-48540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:48498400-48509800	Weak transcription	Aorta	Aorta
30	chr4:48498400-48511600	Weak transcription	Stomach Mucosa	stomach
31	chr4:48498400-48511800	Weak transcription	Fetal Brain Male	brain
32	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr4:48499000-48510600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr4:48499200-48540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:48499400-48527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:48499600-48581400	Strong transcription	Dnd41	blood
39	chr4:48499800-48511600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:48499800-48540000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr4:48500200-48517400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr4:48500400-48540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:48501000-48538800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:48501600-48508800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:48501600-48509600	Weak transcription	Brain Angular Gyrus	brain
48	chr4:48501600-48510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:48501600-48523000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:48501800-48510600	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links