Variant report

Variant	nsv524410
Chromosome Location	chr3:195776240-195816195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2055)
CpG islands
(count:1038)
Chromatin interactive
region (count:105)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2055 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:195800212-195800450	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:195807447-195808294	K562	blood:	n/a	n/a
3	ARID3A	chr3:195800184-195800338	K562	blood:	n/a	n/a
4	ARID3A	chr3:195808790-195809833	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:195805816-195806158	K562	blood:	n/a	n/a
6	ARID3A	chr3:195782697-195783055	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:195808564-195809464	K562	blood:	n/a	n/a
8	ARID3A	chr3:195803724-195803738	K562	blood:	n/a	n/a
9	ATF1	chr3:195805826-195806128	K562	blood:	n/a	n/a
10	ATF1	chr3:195808777-195809192	K562	blood:	n/a	n/a
11	ATF1	chr3:195782607-195783043	K562	blood:	n/a	n/a
12	ATF1	chr3:195807402-195807680	K562	blood:	n/a	n/a
13	ATF2	chr3:195808792-195809201	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr3:195808651-195809188	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr3:195808611-195809440	GM12878	blood:	n/a	n/a
16	ATF2	chr3:195808332-195808585	GM12878	blood:	n/a	n/a
17	ATF2	chr3:195808685-195809494	GM12878	blood:	n/a	n/a
18	ATF3	chr3:195782579-195783053	HCT-116	colon:	n/a	n/a
19	ATF3	chr3:195782634-195783021	K562	blood:	n/a	n/a
20	ATF3	chr3:195782541-195783059	HepG2	liver:	n/a	n/a
21	ATF3	chr3:195782480-195783243	HCT-116	colon:	n/a	n/a
22	ATF3	chr3:195782633-195783071	HepG2	liver:	n/a	n/a
23	ATF3	chr3:195782384-195783173	K562	blood:	n/a	n/a
24	BACH1	chr3:195808894-195808978	K562	blood:	n/a	n/a
25	BACH1	chr3:195778696-195778860	K562	blood:	n/a	n/a
26	BACH1	chr3:195800482-195800483	K562	blood:	n/a	n/a
27	BACH1	chr3:195782133-195782417	K562	blood:	n/a	n/a
28	BACH1	chr3:195806669-195806972	K562	blood:	n/a	n/a
29	BACH1	chr3:195808720-195808963	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr3:195800178-195800435	GM12878	blood:	n/a	n/a
31	BCL11A	chr3:195808750-195809101	GM12878	blood:	n/a	chr3:195808762-195808775 chr3:195809001-195809014
32	BCL3	chr3:195808640-195809227	A549	lung:	n/a	chr3:195809098-195809111 chr3:195808762-195808775 chr3:195809001-195809014
33	BCL3	chr3:195778112-195778461	K562	blood:	n/a	n/a
34	BCL3	chr3:195808745-195809294	GM12878	blood:	n/a	chr3:195809098-195809111 chr3:195808762-195808775 chr3:195809001-195809014
35	BCL3	chr3:195808754-195809289	A549	lung:	n/a	chr3:195809098-195809111 chr3:195808762-195808775 chr3:195809001-195809014
36	BCL3	chr3:195773958-195776944	K562	blood:	n/a	n/a
37	BCLAF1	chr3:195774105-195778789	K562	blood:	n/a	n/a
38	BCLAF1	chr3:195784726-195785448	K562	blood:	n/a	n/a
39	BCLAF1	chr3:195781301-195783138	K562	blood:	n/a	chr3:195781755-195781764
40	BCLAF1	chr3:195808620-195809623	GM12878	blood:	n/a	chr3:195809098-195809111 chr3:195808762-195808775 chr3:195809001-195809014
41	BCLAF1	chr3:195808333-195809206	K562	blood:	n/a	chr3:195809098-195809111 chr3:195808478-195808491 chr3:195808762-195808775 chr3:195809001-195809014
42	BCLAF1	chr3:195775123-195776275	K562	blood:	n/a	n/a
43	BCLAF1	chr3:195793841-195794955	K562	blood:	n/a	n/a
44	BCLAF1	chr3:195786857-195787373	K562	blood:	n/a	n/a
45	BCLAF1	chr3:195796324-195797277	K562	blood:	n/a	n/a
46	BCLAF1	chr3:195779887-195780841	K562	blood:	n/a	n/a
47	BCLAF1	chr3:195798714-195799835	K562	blood:	n/a	n/a
48	BCLAF1	chr3:195800005-195800524	GM12878	blood:	n/a	n/a
49	BCLAF1	chr3:195807829-195809215	K562	blood:	n/a	chr3:195809098-195809111 chr3:195808478-195808491 chr3:195808762-195808775 chr3:195809001-195809014
50	BCLAF1	chr3:195808007-195809355	GM12878	blood:	n/a	chr3:195809098-195809111 chr3:195808478-195808491 chr3:195808762-195808775 chr3:195809001-195809014

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195800273-195800323	Hela-S3	cervix:	n/a
2	chr3:195800273-195800323	Hela-S3	cervix:	n/a
3	chr3:195809355-195809405	NT2-D1	testis:	n/a
4	chr3:195809355-195809405	HAEpiC	amniotic membrane:	n/a
5	chr3:195808879-195808929	NB4	blood:	n/a
6	chr3:195800273-195800323	HEK293	kidney:	embryo
7	chr3:195777018-195777068	ovcar-3	ovarian:	n/a
8	chr3:195809593-195809643	HUVEC	blood vessel:	n/a
9	chr3:195808879-195808929	HRE	kidney:	n/a
10	chr3:195809355-195809405	HRCEpiC	kidney:	n/a
11	chr3:195812701-195812751	PANC-1	pancreas:	n/a
12	chr3:195809355-195809405	PrEC	prostate:	n/a
13	chr3:195800273-195800323	HL-60	blood:	n/a
14	chr3:195812701-195812751	MCF10A-Er-Src	breast:	n/a
15	chr3:195808345-195808395	HAEpiC	amniotic membrane:	n/a
16	chr3:195812701-195812751	IMR90	lung:	fetal
17	chr3:195777018-195777068	NB4	blood:	n/a
18	chr3:195805948-195805998	HPAEpiC	pulmonary alveolar:	n/a
19	chr3:195789749-195789799	Hela-S3	cervix:	n/a
20	chr3:195809593-195809643	HRCEpiC	kidney:	n/a
21	chr3:195809355-195809405	GM12891	blood:	n/a
22	chr3:195805948-195805998	AG09319	gingival:	n/a
23	chr3:195809355-195809405	HEEpiC	esophagus:	n/a
24	chr3:195800273-195800323	Hepatocyte	liver:	n/a
25	chr3:195789749-195789799	PANC-1	pancreas:	n/a
26	chr3:195808986-195809036	A549	lung:	n/a
27	chr3:195805948-195805998	Hepatocyte	liver:	n/a
28	chr3:195808921-195808971	Caco-2	colon:	n/a
29	chr3:195808879-195808929	HAEpiC	amniotic membrane:	n/a
30	chr3:195808879-195808929	HEK293	kidney:	embryo
31	chr3:195789749-195789799	LNCaP	prostate:	n/a
32	chr3:195812701-195812751	SK-N-SH	brain:	n/a
33	chr3:195800273-195800323	HCPEpiC	choroid plexus:	n/a
34	chr3:195805948-195805998	HCF	heart:	n/a
35	chr3:195808986-195809036	NB4	blood:	n/a
36	chr3:195805948-195805998	HRPEpiC	eye:	n/a
37	chr3:195777018-195777068	PANC-1	pancreas:	n/a
38	chr3:195809251-195809301	NB4	blood:	n/a
39	chr3:195800273-195800323	AG09319	gingival:	n/a
40	chr3:195808986-195809036	AG10803	skin:	n/a
41	chr3:195800273-195800323	HEEpiC	esophagus:	n/a
42	chr3:195808353-195808403	NHBE	bronchial:	n/a
43	chr3:195789749-195789799	HUVEC	blood vessel:	n/a
44	chr3:195777018-195777068	AG09319	gingival:	n/a
45	chr3:195809355-195809405	T-47D	breast:	n/a
46	chr3:195808919-195808969	AG09309	skin:	n/a
47	chr3:195809355-195809405	HRE	kidney:	n/a
48	chr3:195808255-195808305	SK-N-MC	brain:	n/a
49	chr3:195800273-195800323	Jurkat	blood:	n/a
50	chr3:195808345-195808395	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812415-chr3:195915832..195927942,46	K562	blood:
2	chr3:195804970..195807492-chr3:195930599..195932477,2	K562	blood:
3	chr11:73087137..73087958-chr3:195809064..195809637,2	HCT-116	colon:
4	chr3:195781940..195789641-chr3:195805045..195810311,11	K562	blood:
5	chr12:49412487..49413124-chr3:195808419..195809056,2	Hela-S3	cervix:
6	chr3:195800817..195802766-chr3:195864613..195867198,2	MCF-7	breast:
7	chr15:67834545..67835150-chr3:195808441..195809425,2	Hela-S3	cervix:
8	chr3:195777307..195778970-chr3:195803293..195805251,2	K562	blood:
9	chr3:195781523..195783440-chr3:195805045..195807096,2	K562	blood:
10	chr3:195808637..195809137-chr5:5422480..5423226,2	Hela-S3	cervix:
11	chr3:195800491..195804775-chr3:195913481..195918135,5	MCF-7	breast:
12	chr3:195773121..195775698-chr3:195778391..195781329,2	MCF-7	breast:
13	chr3:195805990..195808883-chr3:195933159..195936246,3	K562	blood:
14	chr3:195807091..195810537-chr3:195867675..195869638,3	MCF-7	breast:
15	chr3:195783233..195785133-chr3:195787968..195790155,2	MCF-7	breast:
16	chr3:195807059..195809798-chr3:196063350..196066594,3	K562	blood:
17	chr3:195808373..195809995-chr3:196228997..196231632,2	K562	blood:
18	chr3:195807366..195809857-chr3:195814986..195817997,3	MCF-7	breast:
19	chr3:195791142..195792773-chr3:195808257..195810769,2	MCF-7	breast:
20	chr3:195808556..195809153-chr8:102217676..102218553,2	Hela-S3	cervix:
21	chr3:195802604..195804147-chr3:195868786..195870734,2	K562	blood:
22	chr3:195808089..195808909-chr7:26239810..26240342,2	Hela-S3	cervix:
23	chr3:195752724..195755222-chr3:195806059..195808616,2	K562	blood:
24	chr17:56736181..56736876-chr3:195808423..195809101,2	Hela-S3	cervix:
25	chr3:195794950..195798022-chr3:195807553..195809899,4	MCF-7	breast:
26	chr3:195796541..195798124-chr3:195868733..195870810,2	K562	blood:
27	chr3:195808495..195810108-chr3:196228997..196231874,2	K562	blood:
28	chr3:195776607..195778753-chr3:195780835..195783165,2	MCF-7	breast:
29	chr3:195799820..195800471-chr3:195922951..195923671,2	MCF-7	breast:
30	chr3:195813315..195814867-chr3:195884701..195886737,2	K562	blood:
31	chr3:195774337..195776699-chr3:195790526..195792198,2	K562	blood:
32	chr3:195784862..195786996-chr3:195787966..195789528,2	K562	blood:
33	chr3:195809070..195810748-chr3:195828208..195830757,2	MCF-7	breast:
34	chr11:57435731..57436248-chr3:195808497..195809252,2	Hela-S3	cervix:
35	chr3:195785754..195789477-chr3:195789633..195794605,7	K562	blood:
36	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
37	chr19:18496590..18497307-chr3:195808657..195809233,2	HCT-116	colon:
38	chr3:195794950..195798022-chr3:195807553..195809899,4	MCF-7	breast:
39	chr3:195774337..195780265-chr3:195790698..195793878,6	K562	blood:
40	chr3:195785669..195789364-chr3:195799145..195802240,3	MCF-7	breast:
41	chr3:195807696..195810265-chr3:195811097..195814748,4	MCF-7	breast:
42	chr3:195807469..195810377-chr3:195942089..195944693,4	MCF-7	breast:
43	chr3:195792851..195794855-chr3:195871353..195874189,2	K562	blood:
44	chr3:195774978..195780765-chr3:195803293..195810200,8	K562	blood:
45	chr3:195785754..195789477-chr3:195789633..195794605,7	K562	blood:
46	chr3:195785669..195789364-chr3:195799145..195802240,3	MCF-7	breast:
47	chr3:195808627..195809175-chr7:98923008..98923626,2	Hela-S3	cervix:
48	chr21:30445926..30446571-chr3:195808484..195809016,2	Hela-S3	cervix:
49	chr3:195808872..195809382-chr6:5260583..5261415,2	Hela-S3	cervix:
50	chr3:195796942..195799374-chr3:195862059..195864559,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC069257.9.1-10	chr3:195791873-195792276	ucscGeneNc_uc003fug_2
2	lnc-AC069257.9.1-10	chr3:195791492-195791644	ucscGeneNc_uc003fug_2
3	lnc-AC069257.9.1-10	chr3:195791088-195791160	ucscGeneNc_uc003fug_2
4	lnc-ZDHHC19-1	chr3:195785082-195785236	NONHSAT094292
5	lnc-ZDHHC19-1	chr3:195785445-195785829	NONHSAT094292

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	TFRC	hsa-miR-320a	chr3:195778659-195778681
2	TFRC	hsa-miR-200a-3p	chr3:195777349-195777343
3	TFRC	hsa-miR-200a-3p	chr3:195777343-195777366

Variant related genes	Relation type
TFRC	TF binding region
RNU7-18P	TF binding region
TFRC	CpG island
RNU7-18P	CpG island
ENSG00000145982	chromatin interactions
ENSG00000252174	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000163960	chromatin interactions
ENSG00000198791	chromatin interactions
ENSG00000224652	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000142541	chromatin interactions
ENSG00000164151	chromatin interactions
ENSG00000241685	chromatin interactions
ENSG00000270964	chromatin interactions
ENSG00000233493	chromatin interactions
ENSG00000137764	chromatin interactions
ENSG00000228413	chromatin interactions
ENSG00000120963	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000181929	chromatin interactions
ENSG00000061938	chromatin interactions
ENSG00000163958	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000156261	chromatin interactions
ENSG00000163961	chromatin interactions
ENSG00000054967	chromatin interactions
ENSG00000155975	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000035403	chromatin interactions
ENSG00000163959	chromatin interactions
ENSG00000156650	chromatin interactions
ENSG00000145107	chromatin interactions
ENSG00000164896	chromatin interactions
ENSG00000214113	chromatin interactions
ENSG00000156599	chromatin interactions
ENSG00000222335	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000236287	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000213859	chromatin interactions
ENSG00000273331	chromatin interactions
ENSG00000102699	chromatin interactions
ENSG00000181163	chromatin interactions

Extended variants
information (count: 1812 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1812 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570	chr3:195776240-195776241	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574522857	chr3:195776245-195776246	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs41299384	chr3:195776285-195776286	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373017414	chr3:195776301-195776302	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1050153	chr3:195776315-195776316	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560004372	chr3:195776380-195776381	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186269975	chr3:195776436-195776437	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs41299382	chr3:195776454-195776455	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563848253	chr3:195776457-195776458	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531402913	chr3:195776490-195776491	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35283966	chr3:195776496-195776497	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550130791	chr3:195776532-195776533	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190451097	chr3:195776533-195776534	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183406442	chr3:195776544-195776545	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143888949	chr3:195776557-195776558	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371254267	chr3:195776579-195776580	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188924844	chr3:195776589-195776590	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs17788373	chr3:195776590-195776591	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558147664	chr3:195776596-195776597	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs41299380	chr3:195776601-195776602	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142135886	chr3:195776604-195776605	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs41299378	chr3:195776626-195776627	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs41299376	chr3:195776630-195776631	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs41299374	chr3:195776644-195776645	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139167593	chr3:195776710-195776711	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561395016	chr3:195776713-195776714	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114451457	chr3:195776732-195776733	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs17091378	chr3:195776737-195776738	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs522509	chr3:195776790-195776791	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368013003	chr3:195776795-195776796	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575927561	chr3:195776796-195776797	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9842780	chr3:195776809-195776810	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs17091382	chr3:195776827-195776828	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529540414	chr3:195776841-195776842	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535950	chr3:195776857-195776858	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs41299372	chr3:195776863-195776864	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560101628	chr3:195776864-195776865	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111271657	chr3:195776915-195776916	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552078948	chr3:195776959-195776960	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs72547277	chr3:195776963-195776964	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561177538	chr3:195776965-195776966	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs406271	chr3:195776976-195776977	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550234813	chr3:195777019-195777020	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564248787	chr3:195777035-195777036	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571809241	chr3:195777058-195777059	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs41299370	chr3:195777065-195777066	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567606434	chr3:195777078-195777079	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1063481	chr3:195777103-195777104	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs41299368	chr3:195777111-195777112	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs17788379	chr3:195777211-195777212	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:1367 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195762800-195780200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:195768400-195781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:195768600-195778800	Weak transcription	Fetal Stomach	stomach
4	chr3:195769800-195776400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:195770000-195778800	Weak transcription	Gastric	stomach
6	chr3:195770200-195778000	Weak transcription	Ovary	ovary
7	chr3:195770200-195778800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:195770400-195776800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:195770400-195778200	Weak transcription	Fetal Kidney	kidney
10	chr3:195771000-195776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:195771400-195804000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:195771600-195776400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:195771800-195776400	Weak transcription	Colonic Mucosa	Colon
14	chr3:195771800-195778800	Weak transcription	Lung	lung
15	chr3:195772400-195781000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:195772800-195776400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:195773000-195776400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:195773000-195802000	Strong transcription	Dnd41	blood
19	chr3:195773200-195776600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr3:195773200-195805200	Strong transcription	Fetal Thymus	thymus
21	chr3:195773400-195800400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:195773600-195776400	Weak transcription	Right Ventricle	heart
23	chr3:195773600-195776600	Weak transcription	Psoas Muscle	Psoas
24	chr3:195773600-195778200	Weak transcription	Pancreas	Pancrea
25	chr3:195773600-195782000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr3:195773600-195790200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:195774200-195785600	Strong transcription	A549	lung
28	chr3:195774200-195791400	Strong transcription	Primary B cells from cord blood	blood
29	chr3:195774200-195800200	Strong transcription	Placenta	Placenta
30	chr3:195774200-195803800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:195774200-195804800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:195774400-195776400	Weak transcription	Fetal Heart	heart
33	chr3:195774400-195777000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:195774400-195778000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:195774400-195784400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:195774400-195800200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:195774400-195803800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr3:195774600-195776400	Weak transcription	HSMMtube	muscle
39	chr3:195774600-195778000	Weak transcription	Fetal Brain Male	brain
40	chr3:195774600-195778200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:195774600-195778600	Weak transcription	NHDF-Ad	bronchial
42	chr3:195774600-195783200	Strong transcription	HMEC	breast
43	chr3:195774600-195789600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:195774600-195803800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:195774600-195805400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:195774800-195776400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:195774800-195776400	Weak transcription	HepG2	liver
48	chr3:195774800-195803000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:195774800-195803400	Strong transcription	Left Ventricle	heart
50	chr3:195775000-195776600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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