Variant report

Variant	nsv536895
Chromosome Location	chr3:196028141-196190687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2908)
CpG islands
(count:2809)
Chromatin interactive
region (count:228)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2908 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:196066607-196067672	K562	blood:	n/a	n/a
2	ARID3A	chr3:196159223-196159917	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:196074051-196074658	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:196045131-196045281	K562	blood:	n/a	n/a
5	ARID3A	chr3:196105180-196105538	K562	blood:	n/a	n/a
6	ARID3A	chr3:196065223-196065568	K562	blood:	n/a	n/a
7	ARID3A	chr3:196170907-196171291	K562	blood:	n/a	n/a
8	ARID3A	chr3:196030281-196030471	HepG2	liver:	n/a	n/a
9	ARID3A	chr3:196044868-196045005	HepG2	liver:	n/a	chr3:196044911-196044926
10	ARID3A	chr3:196158041-196158234	HepG2	liver:	n/a	n/a
11	ARID3A	chr3:196157987-196158455	K562	blood:	n/a	n/a
12	ATF1	chr3:196112933-196113242	K562	blood:	n/a	n/a
13	ATF1	chr3:196045048-196045429	K562	blood:	n/a	n/a
14	ATF1	chr3:196105419-196105644	K562	blood:	n/a	n/a
15	ATF1	chr3:196095371-196095414	K562	blood:	n/a	n/a
16	ATF1	chr3:196066740-196066989	K562	blood:	n/a	n/a
17	ATF1	chr3:196064298-196064679	K562	blood:	n/a	n/a
18	ATF1	chr3:196030714-196030828	K562	blood:	n/a	n/a
19	ATF2	chr3:196190257-196191183	GM12878	blood:	n/a	n/a
20	ATF2	chr3:196184380-196184901	GM12878	blood:	n/a	n/a
21	ATF2	chr3:196189203-196190161	GM12878	blood:	n/a	n/a
22	ATF2	chr3:196166607-196168846	GM12878	blood:	n/a	n/a
23	ATF2	chr3:196190274-196190947	GM12878	blood:	n/a	n/a
24	ATF2	chr3:196159290-196159854	GM12878	blood:	n/a	n/a
25	ATF2	chr3:196166688-196168038	GM12878	blood:	n/a	n/a
26	ATF2	chr3:196045027-196045420	GM12878	blood:	n/a	n/a
27	ATF2	chr3:196168082-196168769	GM12878	blood:	n/a	n/a
28	ATF2	chr3:196189170-196190145	GM12878	blood:	n/a	n/a
29	ATF2	chr3:196159393-196159853	GM12878	blood:	n/a	n/a
30	ATF3	chr3:196045000-196045380	K562	blood:	n/a	n/a
31	ATF3	chr3:196065271-196065725	K562	blood:	n/a	n/a
32	ATF3	chr3:196044913-196045235	A549	lung:	n/a	n/a
33	ATF3	chr3:196066697-196066945	K562	blood:	n/a	n/a
34	ATF3	chr3:196044982-196045321	HepG2	liver:	n/a	n/a
35	ATF3	chr3:196045007-196045237	GM12878	blood:	n/a	n/a
36	ATF3	chr3:196066623-196067055	K562	blood:	n/a	n/a
37	ATF3	chr3:196045004-196045333	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF3	chr3:196064125-196064652	K562	blood:	n/a	n/a
39	ATF3	chr3:196065258-196065615	K562	blood:	n/a	n/a
40	BACH1	chr3:196159025-196159588	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr3:196066604-196067061	K562	blood:	n/a	n/a
42	BACH1	chr3:196044422-196044653	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr3:196170898-196171141	K562	blood:	n/a	n/a
44	BACH1	chr3:196052444-196052596	K562	blood:	n/a	n/a
45	BACH1	chr3:196064626-196065196	K562	blood:	n/a	n/a
46	BACH1	chr3:196067324-196067631	K562	blood:	n/a	n/a
47	BACH1	chr3:196066659-196066986	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr3:196045139-196045376	H1-hESC	embryonic stem cell:	n/a	n/a
49	BATF	chr3:196043609-196044354	GM12878	blood:	n/a	n/a
50	BATF	chr3:196189100-196189356	GM12878	blood:	n/a	n/a

(count:2809 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:196154735-196154785	HepG2	liver:	n/a
2	chr3:196065328-196065378	Hela-S3	cervix:	n/a
3	chr3:196048411-196048461	HCT-116	colon:	n/a
4	chr3:196154735-196154785	HepG2	liver:	n/a
5	chr3:196065328-196065378	Hela-S3	cervix:	n/a
6	chr3:196048411-196048461	HCT-116	colon:	n/a
7	chr3:196042855-196042905	NT2-D1	testis:	n/a
8	chr3:196048411-196048461	Hela-S3	cervix:	n/a
9	chr3:196163167-196163217	PFSK-1	brain:	n/a
10	chr3:196065506-196065556	GM12892	blood:	n/a
11	chr3:196134040-196134090	GM06990	blood:	n/a
12	chr3:196041192-196041242	HCM	heart:	n/a
13	chr3:196045222-196045272	Hela-S3	cervix:	n/a
14	chr3:196045224-196045274	HRE	kidney:	n/a
15	chr3:196044948-196044998	HCF	heart:	n/a
16	chr3:196046093-196046143	LNCaP	prostate:	n/a
17	chr3:196045338-196045388	HRPEpiC	eye:	n/a
18	chr3:196065106-196065156	RPTEC	kidney:	n/a
19	chr3:196065569-196065619	HEEpiC	esophagus:	n/a
20	chr3:196112485-196112535	HNPCEpiC	eye:	n/a
21	chr3:196045435-196045485	HAEpiC	amniotic membrane:	n/a
22	chr3:196045283-196045333	SKMC	muscle:	n/a
23	chr3:196065485-196065535	SK-N-MC	brain:	n/a
24	chr3:196045283-196045333	BE2_C	brain:	n/a
25	chr3:196082185-196082235	HIPEpiC	eye:	n/a
26	chr3:196159742-196159792	HEK293	kidney:	embryo
27	chr3:196065357-196065407	HEK293	kidney:	embryo
28	chr3:196159443-196159493	T-47D	breast:	n/a
29	chr3:196065357-196065407	IMR90	lung:	fetal
30	chr3:196159589-196159639	SKMC	muscle:	n/a
31	chr3:196065289-196065339	Hepatocyte	liver:	n/a
32	chr3:196163167-196163217	HRE	kidney:	n/a
33	chr3:196159244-196159294	AoSMC	blood vessel:	n/a
34	chr3:196065106-196065156	HNPCEpiC	eye:	n/a
35	chr3:196158604-196158654	HAEpiC	amniotic membrane:	n/a
36	chr3:196065506-196065556	HCT-116	colon:	n/a
37	chr3:196112441-196112491	HRE	kidney:	n/a
38	chr3:196112485-196112535	AoSMC	blood vessel:	n/a
39	chr3:196065318-196065368	HRE	kidney:	n/a
40	chr3:196041192-196041242	GM06990	blood:	n/a
41	chr3:196045342-196045392	NT2-D1	testis:	n/a
42	chr3:196065306-196065356	HRCEpiC	kidney:	n/a
43	chr3:196045335-196045385	SK-N-MC	brain:	n/a
44	chr3:196065357-196065407	PANC-1	pancreas:	n/a
45	chr3:196065318-196065368	Caco-2	colon:	n/a
46	chr3:196112441-196112491	HMEC	breast:	n/a
47	chr3:196159654-196159704	NHDF-neo	bronchial:	n/a
48	chr3:196159244-196159294	HRCEpiC	kidney:	n/a
49	chr3:196065506-196065556	HCM	heart:	n/a
50	chr3:196045222-196045272	HPAEpiC	pulmonary alveolar:	n/a

(count:228 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr3:196136134..196138094-chr3:196139731..196142693,2	MCF-7	breast:
2	chr3:196029606..196031660-chr3:196035462..196038417,2	K562	blood:
3	chr3:196030106..196032154-chr3:196042449..196045068,2	K562	blood:
4	chr3:196038442..196040771-chr3:196041248..196043484,3	K562	blood:
5	chr3:196014434..196017243-chr3:196157002..196159307,2	K562	blood:
6	chr3:196033664..196035920-chr3:196044449..196046032,2	K562	blood:
7	chr3:196047230..196049663-chr3:196050075..196051635,2	MCF-7	breast:
8	chr16:4526518..4527018-chr3:196105176..196106110,2	Hela-S3	cervix:
9	chr3:196048792..196050575-chr3:196065911..196067478,2	MCF-7	breast:
10	chr3:196021290..196023014-chr3:196028122..196030675,2	K562	blood:
11	chr3:196078799..196081788-chr3:196092025..196095226,4	K562	blood:
12	chr15:41056175..41056885-chr3:196159214..196159919,2	Hela-S3	cervix:
13	chr3:196156342..196159977-chr3:196227568..196231019,3	MCF-7	breast:
14	chr3:196100863..196102886-chr3:196104953..196107824,2	K562	blood:
15	chr3:196043015..196047197-chr3:196061951..196068288,11	K562	blood:
16	chr3:196169492..196171100-chr3:196172637..196174414,2	K562	blood:
17	chr3:196013962..196014815-chr3:196069786..196070661,4	MCF-7	breast:
18	chr3:196068585..196071026-chr3:196125432..196127097,2	MCF-7	breast:
19	chr3:196133565..196136496-chr3:196147816..196149454,2	K562	blood:
20	chr3:196062836..196066201-chr3:196157853..196162484,6	K562	blood:
21	chr3:196030405..196033243-chr3:196043662..196046190,3	K562	blood:
22	chr3:196038442..196040771-chr3:196041248..196043484,3	K562	blood:
23	chr3:196087051..196089707-chr3:196092775..196094458,2	K562	blood:
24	chr3:196013884..196016167-chr3:196080073..196081779,2	K562	blood:
25	chr3:196084775..196086464-chr3:196096012..196098919,2	K562	blood:
26	chr3:196065700..196067576-chr3:196094863..196096889,2	K562	blood:
27	chr3:196075057..196077486-chr3:196084676..196086437,2	K562	blood:
28	chr3:196014212..196016306-chr3:196062015..196064940,3	MCF-7	breast:
29	chr3:196013567..196017227-chr3:196043342..196045325,4	MCF-7	breast:
30	chr3:196069058..196070648-chr3:196099629..196101467,2	K562	blood:
31	chr3:195933131..195935157-chr3:196159454..196161102,2	K562	blood:
32	chr3:196103840..196105489-chr3:196133127..196135831,2	K562	blood:
33	chr3:196013508..196016403-chr3:196043043..196046288,6	MCF-7	breast:
34	chr3:196025894..196029484-chr3:196038924..196041076,3	K562	blood:
35	chr3:196040934..196046683-chr3:196067954..196076269,13	MCF-7	breast:
36	chr3:196142039..196143861-chr3:196152128..196153766,2	K562	blood:
37	chr3:196029606..196031660-chr3:196035462..196038417,2	K562	blood:
38	chr3:196012377..196016502-chr3:196041586..196047553,11	K562	blood:
39	chr3:196124558..196126207-chr3:196129580..196132524,2	K562	blood:
40	chr3:196136760..196139527-chr3:196139977..196142790,2	K562	blood:
41	chr3:196074463..196076751-chr3:196080961..196082599,3	MCF-7	breast:
42	chr3:196064683..196067033-chr3:196229952..196232006,2	K562	blood:
43	chr3:196091786..196093486-chr3:196095004..196096934,2	K562	blood:
44	chr3:196043730..196046568-chr3:196064807..196067685,4	MCF-7	breast:
45	chr3:196013231..196016156-chr3:196060060..196062117,2	MCF-7	breast:
46	chr3:196115479..196118192-chr3:196129291..196130932,2	K562	blood:
47	chr3:196183704..196185237-chr3:196195046..196197867,2	K562	blood:
48	chr3:196013446..196015161-chr3:196091551..196094117,2	MCF-7	breast:
49	chr3:195995012..195996670-chr3:196038187..196039923,2	MCF-7	breast:
50	chr3:196036607..196038386-chr3:196041731..196043557,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC069257.9.1-11	chr3:196126782-196127077	NONHSAT094332
2	lnc-AC069257.9.1-3	chr3:196050628-196051059	ENSG00000235897.1
3	lnc-FBXO45-2	chr3:196158256-196158312	ENSG00000225822.2
4	lnc-AC069257.9.1-3	chr3:196045277-196045308	ENSG00000235897.1
5	lnc-AC069257.9.1-3	chr3:196045245-196045308	NONHSAT094327
6	lnc-AC069257.9.1-3	chr3:196045221-196045308	ENSG00000235897.1
7	lnc-FBXO45-4	chr3:196181233-196181272	NONHSAT094341
8	lnc-AC069257.9.1-3	chr3:196045201-196045308	ENSG00000235897.1
9	lnc-TM4SF19-1	chr3:196124382-196124649	NONHSAT094331
10	lnc-FBXO45-5	chr3:196176730-196179318	NONHSAT094339
11	lnc-FBXO45-6	chr3:196172625-196173629	NONHSAT094338
12	lnc-FBXO45-2	chr3:196159073-196159401	ENSG00000225822.2
13	lnc-AC069257.9.1-3	chr3:196050331-196050544	ENSG00000235897.1
14	lnc-AC069257.9.1-3	chr3:196050701-196052441	ENSG00000235897.1
15	lnc-FBXO45-7	chr3:196150193-196150393	NONHSAT094335
16	lnc-FBXO45-2	chr3:196158235-196160242	ENSG00000225822.3
17	lnc-AC069257.9.1-3	chr3:196050628-196050852	NONHSAT094327
18	lnc-AC069257.9.1-3	chr3:196052471-196052758	NONHSAT094327
19	lnc-AC069257.9.1-3	chr3:196051153-196051737	NONHSAT094327

No data

Variant related genes	Relation type
TCTEX1D2	TF binding region
ENSG00000273331	TF binding region
ENSG00000237418	TF binding region
RNU6-910P	TF binding region
ENSG00000226345	TF binding region
TM4SF19-AS1	TF binding region
RN7SL434P	TF binding region
RN7SL738P	TF binding region
ENSG00000225240	TF binding region
ENSG00000272741	TF binding region
TM4SF19	TF binding region
UBXN7	TF binding region
UBXN7-AS1	TF binding region
RNU6-1279P	TF binding region
TCTEX1D2	CpG island
ENSG00000273331	CpG island
ENSG00000237418	CpG island
RNU6-910P	CpG island
ENSG00000226345	CpG island
TM4SF19-AS1	CpG island
RN7SL434P	CpG island
RN7SL738P	CpG island
ENSG00000225240	CpG island
ENSG00000272741	CpG island
TM4SF19	CpG island
UBXN7	CpG island
UBXN7-AS1	CpG island
RNU6-1279P	CpG island
ENSG00000259248	chromatin interactions
ENSG00000094631	chromatin interactions
ENSG00000212146	chromatin interactions
ENSG00000104897	chromatin interactions
ENSG00000112996	chromatin interactions
ENSG00000163960	chromatin interactions
ENSG00000243339	chromatin interactions
ENSG00000185798	chromatin interactions
ENSG00000226345	chromatin interactions
ENSG00000225822	chromatin interactions
ENSG00000235897	chromatin interactions
ENSG00000241868	chromatin interactions
ENSG00000272741	chromatin interactions
ENSG00000174013	chromatin interactions
ENSG00000213123	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000137880	chromatin interactions
ENSG00000142230	chromatin interactions
ENSG00000104886	chromatin interactions
ENSG00000206644	chromatin interactions
ENSG00000148154	chromatin interactions
ENSG00000273331	chromatin interactions
ENSG00000161217	chromatin interactions
ENSG00000228028	chromatin interactions
ENSG00000251141	chromatin interactions
ENSG00000163961	chromatin interactions
ENSG00000130749	chromatin interactions
ENSG00000145107	chromatin interactions

Extended variants
information (count: 6656 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:6656 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71323713	chr3:196028144-196028145	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs570775949	chr3:196028186-196028187	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs531506895	chr3:196028207-196028208	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370558187	chr3:196028208-196028209	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs374875601	chr3:196028251-196028252	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs550006145	chr3:196028257-196028258	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs545369863	chr3:196028291-196028292	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs563707324	chr3:196028309-196028310	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568123556	chr3:196028356-196028357	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535529366	chr3:196028397-196028398	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs367579739	chr3:196028447-196028448	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs147514695	chr3:196028494-196028495	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11914521	chr3:196028508-196028509	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs546534336	chr3:196028540-196028541	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs4916476	chr3:196028556-196028557	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs529069447	chr3:196028563-196028564	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs4916477	chr3:196028630-196028631	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs576349594	chr3:196028638-196028639	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs202068437	chr3:196028652-196028653	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569232783	chr3:196028746-196028747	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs554709686	chr3:196028790-196028791	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs555549678	chr3:196028809-196028810	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574191947	chr3:196028811-196028812	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs151112291	chr3:196028813-196028814	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375095419	chr3:196028851-196028852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559625269	chr3:196028854-196028855	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs533325642	chr3:196028918-196028919	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112148650	chr3:196028920-196028921	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139716917	chr3:196028927-196028928	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs149771725	chr3:196028933-196028934	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531648629	chr3:196028940-196028941	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550142588	chr3:196028969-196028970	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs77524279	chr3:196028985-196028986	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs568246011	chr3:196029016-196029017	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs145682602	chr3:196029038-196029039	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191759060	chr3:196029069-196029070	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs531111436	chr3:196029105-196029106	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs60216585	chr3:196029146-196029147	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs184677499	chr3:196029192-196029193	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs73086666	chr3:196029232-196029233	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537339764	chr3:196029413-196029414	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs35423656	chr3:196029415-196029416	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs372692003	chr3:196029500-196029501	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs113057085	chr3:196029541-196029542	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs188989117	chr3:196029579-196029580	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs534922773	chr3:196029612-196029613	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs553404928	chr3:196029640-196029641	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs62409173	chr3:196029660-196029661	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs566830381	chr3:196029720-196029721	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs534186674	chr3:196029724-196029725	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

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
Chronic lymphocytic leukemia	20421269	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4175 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196015200-196038800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:196015200-196044400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:196015400-196028800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:196015400-196030200	Weak transcription	NHDF-Ad	bronchial
5	chr3:196015400-196033000	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:196015400-196043800	Weak transcription	Brain Substantia Nigra	brain
7	chr3:196015400-196043800	Weak transcription	Fetal Kidney	kidney
8	chr3:196015400-196043800	Weak transcription	Fetal Lung	lung
9	chr3:196015400-196044400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:196015400-196044400	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:196015400-196044400	Weak transcription	Lung	lung
12	chr3:196015600-196028200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:196015600-196028800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:196015600-196034200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:196015600-196034400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:196015600-196034800	Weak transcription	HSMMtube	muscle
17	chr3:196015600-196036200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:196015600-196041400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:196015600-196043600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:196015600-196043600	Weak transcription	Fetal Brain Male	brain
21	chr3:196015600-196043800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:196015600-196043800	Weak transcription	Brain Angular Gyrus	brain
23	chr3:196015600-196044200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:196015600-196044200	Weak transcription	Adipose Nuclei	Adipose
25	chr3:196015600-196044400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:196015800-196028800	Weak transcription	Osteobl	bone
27	chr3:196015800-196029000	Weak transcription	NHEK	skin
28	chr3:196015800-196038800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:196015800-196042800	Weak transcription	HMEC	breast
30	chr3:196015800-196043000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:196015800-196043400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:196015800-196043600	Weak transcription	A549	lung
33	chr3:196015800-196043800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:196015800-196043800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:196015800-196043800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:196015800-196043800	Weak transcription	HSMM	muscle
37	chr3:196015800-196044200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:196015800-196044400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:196016000-196043600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr3:196016000-196043600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr3:196018600-196044200	Weak transcription	Fetal Intestine Large	intestine
42	chr3:196020400-196030000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:196021200-196033200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:196021400-196033600	Strong transcription	Brain Germinal Matrix	brain
45	chr3:196022000-196032400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:196022600-196029000	Weak transcription	Primary T cells from cord blood	blood
47	chr3:196022600-196033000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:196023200-196044400	Weak transcription	Left Ventricle	heart
49	chr3:196023400-196044400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:196024200-196029200	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links