Variant report

Variant	nsv516233
Chromosome Location	chr3:121419301-121670405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2426)
CpG islands
(count:2384)
Chromatin interactive
region (count:177)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2426 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:121514064-121514134	K562	blood:	n/a	n/a
2	ARID3A	chr3:121468403-121468989	K562	blood:	n/a	n/a
3	ARID3A	chr3:121555327-121555897	K562	blood:	n/a	n/a
4	ARID3A	chr3:121602426-121602710	K562	blood:	n/a	n/a
5	ARID3A	chr3:121462983-121463054	K562	blood:	n/a	n/a
6	ARID3A	chr3:121523332-121523538	K562	blood:	n/a	n/a
7	ARID3A	chr3:121553786-121554196	K562	blood:	n/a	n/a
8	ARID3A	chr3:121467807-121469274	HepG2	liver:	n/a	n/a
9	ARID3A	chr3:121553892-121554340	HepG2	liver:	n/a	n/a
10	ARID3A	chr3:121670137-121670461	HepG2	liver:	n/a	n/a
11	ARID3A	chr3:121602415-121602687	HepG2	liver:	n/a	n/a
12	ATF1	chr3:121468484-121469028	K562	blood:	n/a	chr3:121468524-121468538
13	ATF2	chr3:121468395-121469101	GM12878	blood:	n/a	chr3:121468524-121468538
14	ATF2	chr3:121553559-121554147	GM12878	blood:	n/a	n/a
15	ATF2	chr3:121468423-121468994	H1-hESC	embryonic stem cell:	n/a	chr3:121468524-121468538
16	ATF2	chr3:121442824-121443362	GM12878	blood:	n/a	n/a
17	ATF2	chr3:121553346-121554690	GM12878	blood:	n/a	n/a
18	ATF2	chr3:121528006-121528576	GM12878	blood:	n/a	n/a
19	ATF2	chr3:121454131-121454588	GM12878	blood:	n/a	n/a
20	ATF2	chr3:121528089-121528693	GM12878	blood:	n/a	n/a
21	ATF2	chr3:121467974-121468305	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr3:121453881-121454600	GM12878	blood:	n/a	n/a
23	ATF3	chr3:121468342-121468877	A549	lung:	n/a	chr3:121468527-121468547 chr3:121468567-121468576
24	BACH1	chr3:121508656-121508683	K562	blood:	n/a	n/a
25	BACH1	chr3:121553761-121554262	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr3:121554053-121554074	K562	blood:	n/a	n/a
27	BACH1	chr3:121468537-121468931	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr3:121528193-121528452	GM12878	blood:	n/a	n/a
29	BATF	chr3:121454227-121454518	GM12878	blood:	n/a	n/a
30	BATF	chr3:121454203-121454501	GM12878	blood:	n/a	n/a
31	BATF	chr3:121528186-121528478	GM12878	blood:	n/a	n/a
32	BATF	chr3:121553976-121554220	GM12878	blood:	n/a	n/a
33	BATF	chr3:121553884-121554288	GM12878	blood:	n/a	n/a
34	BCL11A	chr3:121528141-121528529	GM12878	blood:	n/a	chr3:121528342-121528351
35	BCL11A	chr3:121454226-121454493	GM12878	blood:	n/a	n/a
36	BCL3	chr3:121468324-121469213	A549	lung:	n/a	chr3:121468829-121468838 chr3:121468566-121468575 chr3:121468400-121468413
37	BCL3	chr3:121486039-121486304	GM12878	blood:	n/a	n/a
38	BCLAF1	chr3:121442806-121443409	GM12878	blood:	n/a	n/a
39	BCLAF1	chr3:121553167-121554413	GM12878	blood:	n/a	chr3:121553872-121553885 chr3:121553949-121553958
40	BCLAF1	chr3:121468281-121469112	GM12878	blood:	n/a	chr3:121468829-121468838 chr3:121468566-121468575 chr3:121468400-121468413
41	BCLAF1	chr3:121553367-121554432	GM12878	blood:	n/a	chr3:121553872-121553885 chr3:121553949-121553958
42	BCLAF1	chr3:121527901-121528529	GM12878	blood:	n/a	chr3:121528342-121528351
43	BHLHE40	chr3:121528124-121528501	GM12878	blood:	n/a	n/a
44	BHLHE40	chr3:121468107-121469016	K562	blood:	n/a	n/a
45	BHLHE40	chr3:121528811-121528910	GM12878	blood:	n/a	n/a
46	BHLHE40	chr3:121512021-121512249	GM12878	blood:	n/a	n/a
47	BHLHE40	chr3:121553728-121554278	GM12878	blood:	n/a	n/a
48	BHLHE40	chr3:121468051-121469244	GM12878	blood:	n/a	n/a
49	BHLHE40	chr3:121454091-121454483	GM12878	blood:	n/a	n/a
50	BHLHE40	chr3:121553722-121554638	K562	blood:	n/a	n/a

(count:2384 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:121468552-121468602	HNPCEpiC	eye:	n/a
2	chr3:121553586-121553636	NHDF-neo	bronchial:	n/a
3	chr3:121512184-121512234	HRE	kidney:	n/a
4	chr3:121469168-121469218	GM19239	blood:	n/a
5	chr3:121554012-121554062	HCM	heart:	n/a
6	chr3:121468552-121468602	HNPCEpiC	eye:	n/a
7	chr3:121553586-121553636	NHDF-neo	bronchial:	n/a
8	chr3:121512184-121512234	HRE	kidney:	n/a
9	chr3:121469168-121469218	GM19239	blood:	n/a
10	chr3:121554012-121554062	HCM	heart:	n/a
11	chr3:121472567-121472617	HNPCEpiC	eye:	n/a
12	chr3:121612956-121613006	LNCaP	prostate:	n/a
13	chr3:121660655-121660705	HIPEpiC	eye:	n/a
14	chr3:121612956-121613006	AG09319	gingival:	n/a
15	chr3:121555186-121555236	HCT-116	colon:	n/a
16	chr3:121468093-121468143	CMK	blood:	n/a
17	chr3:121468984-121469034	HepG2	liver:	n/a
18	chr3:121612956-121613006	HL-60	blood:	n/a
19	chr3:121553586-121553636	AG09319	gingival:	n/a
20	chr3:121613396-121613446	HEEpiC	esophagus:	n/a
21	chr3:121453622-121453672	HUVEC	blood vessel:	n/a
22	chr3:121468984-121469034	PrEC	prostate:	n/a
23	chr3:121491382-121491432	RPTEC	kidney:	n/a
24	chr3:121468720-121468770	RPTEC	kidney:	n/a
25	chr3:121468093-121468143	AG10803	skin:	n/a
26	chr3:121613703-121613753	A549	lung:	n/a
27	chr3:121512184-121512234	PFSK-1	brain:	n/a
28	chr3:121468027-121468077	BJ	skin:	n/a
29	chr3:121468552-121468602	ovcar-3	ovarian:	n/a
30	chr3:121468260-121468310	U87	brain:	n/a
31	chr3:121468984-121469034	HRPEpiC	eye:	n/a
32	chr3:121554019-121554069	Caco-2	colon:	n/a
33	chr3:121556543-121556593	Caco-2	colon:	n/a
34	chr3:121468093-121468143	HCF	heart:	n/a
35	chr3:121555186-121555236	HIPEpiC	eye:	n/a
36	chr3:121491382-121491432	NHBE	bronchial:	n/a
37	chr3:121613703-121613753	AoSMC	blood vessel:	n/a
38	chr3:121468093-121468143	MCF-7	breast:	n/a
39	chr3:121554094-121554144	IMR90	lung:	fetal
40	chr3:121553821-121553871	PFSK-1	brain:	n/a
41	chr3:121555186-121555236	PFSK-1	brain:	n/a
42	chr3:121553985-121554035	Hepatocyte	liver:	n/a
43	chr3:121453622-121453672	T-47D	breast:	n/a
44	chr3:121469168-121469218	ovcar-3	ovarian:	n/a
45	chr3:121468260-121468310	HRE	kidney:	n/a
46	chr3:121556543-121556593	GM06990	blood:	n/a
47	chr3:121554019-121554069	HUVEC	blood vessel:	n/a
48	chr3:121554459-121554509	GM19239	blood:	n/a
49	chr3:121468852-121468902	HNPCEpiC	eye:	n/a
50	chr3:121613703-121613753	Hela-S3	cervix:	n/a

(count:177 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:121465799..121468529-chr3:121552939..121555166,2	MCF-7	breast:
2	chr3:121522927..121524938-chr3:121541691..121544252,2	MCF-7	breast:
3	chr3:121467372..121472022-chr3:121479274..121484300,4	K562	blood:
4	chr3:121538956..121540532-chr3:121552640..121554149,2	MCF-7	breast:
5	chr3:121476465..121478394-chr3:121487558..121489191,2	K562	blood:
6	chr3:121476185..121478583-chr3:121487333..121489088,3	K562	blood:
7	chr3:121498095..121500834-chr3:121519561..121521853,2	MCF-7	breast:
8	chr3:121547606..121551491-chr3:121552024..121556641,8	K562	blood:
9	chr3:121429333..121431027-chr3:121468006..121470024,2	MCF-7	breast:
10	chr3:121469866..121471508-chr3:121475985..121477623,2	K562	blood:
11	chr14:23564396..23565219-chr3:121468037..121468703,2	Hela-S3	cervix:
12	chr3:121574320..121575023-chr3:121811100..121811983,4	MCF-7	breast:
13	chr3:121466624..121468797-chr3:121553319..121555550,2	MCF-7	breast:
14	chr3:121540007..121542032-chr3:121549979..121552263,2	K562	blood:
15	chr3:121402372..121403987-chr3:121435580..121437205,2	MCF-7	breast:
16	chr3:121479199..121481073-chr3:121484942..121486900,2	K562	blood:
17	chr3:121585044..121587852-chr3:121590629..121592381,2	K562	blood:
18	chr3:121480892..121483629-chr3:121486983..121489016,2	K562	blood:
19	chr3:121476465..121478394-chr3:121487558..121489191,2	K562	blood:
20	chr17:685075..685674-chr3:121468156..121469032,2	Hela-S3	cervix:
21	chr3:121468029..121468701-chr9:33025084..33025810,2	NB4	blood:
22	chr3:121498622..121501358-chr3:121516478..121520165,3	K562	blood:
23	chr3:121498622..121501358-chr3:121516478..121520165,3	K562	blood:
24	chr3:121503081..121505086-chr3:121506757..121508419,2	MCF-7	breast:
25	chr3:121523456..121525541-chr3:121550635..121553696,3	K562	blood:
26	chr3:121633080..121634996-chr3:121639637..121641461,2	MCF-7	breast:
27	chr3:121479199..121481073-chr3:121484942..121486900,2	K562	blood:
28	chr3:121422713..121424587-chr3:121439673..121442209,2	MCF-7	breast:
29	chr3:121420842..121422524-chr3:121426480..121428817,2	MCF-7	breast:
30	chr3:121447927..121450060-chr3:121456793..121458393,2	K562	blood:
31	chr3:121467012..121468872-chr3:121497034..121500161,3	K562	blood:
32	chr3:121469093..121470860-chr3:121480115..121482218,2	K562	blood:
33	chr3:121468842..121470508-chr3:121478422..121481372,2	MCF-7	breast:
34	chr3:121518964..121521097-chr3:121656620..121658733,2	MCF-7	breast:
35	chr3:121469877..121471972-chr3:121492602..121496614,3	MCF-7	breast:
36	chr3:121469877..121471972-chr3:121492602..121496614,3	MCF-7	breast:
37	chr3:121417854..121420828-chr3:121422749..121424314,2	K562	blood:
38	chr3:121603643..121605566-chr3:121656266..121657891,2	MCF-7	breast:
39	chr3:121457648..121460284-chr3:121467145..121470013,4	K562	blood:
40	chr3:121557805..121560130-chr3:121563669..121566331,2	MCF-7	breast:
41	chr3:121508915..121510518-chr3:121513202..121515612,2	MCF-7	breast:
42	chr3:121377179..121379153-chr3:121573085..121574882,2	MCF-7	breast:
43	chr3:121566038..121567568-chr3:121569275..121571033,2	K562	blood:
44	chr3:121468345..121469203-chr5:10353164..10353936,2	Hela-S3	cervix:
45	chr3:121371073..121373945-chr3:121419380..121420928,2	MCF-7	breast:
46	chr3:121537691..121539463-chr3:121547054..121549794,2	K562	blood:
47	chr2:85554691..85555235-chr3:121468248..121468845,2	Hela-S3	cervix:
48	chr3:121537857..121540705-chr3:121553150..121557600,4	K562	blood:
49	chr3:121574539..121575065-chr3:121708863..121709385,3	MCF-7	breast:
50	chr3:121468824..121470576-chr3:121473102..121475078,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGB1-3	chr3:121553813-121553839	NONHSAT091482
2	lnc-EAF2-1	chr3:121646506-121646686	NONHSAT091485
3	lnc-GOLGB1-3	chr3:121552783-121553326	NONHSAT091482
4	lnc-EAF2-2	chr3:121489799-121490825	l_2448_chr3:121487690-121490825_testes
5	lnc-EAF2-1	chr3:121647268-121647385	NONHSAT091485
6	lnc-EAF2-2	chr3:121487691-121488674	l_2448_chr3:121487690-121490825_testes
7	lnc-EAF2-3	chr3:121468132-121470030	NONHSAT091480

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	IQCB1	hsa-miR-98-5p	chr3:121489039-121489033
2	IQCB1	hsa-miR-98-5p	chr3:121489033-121489056

Variant related genes	Relation type
GOLGB1	TF binding region
ENSG00000263678	TF binding region
SLC15A2	TF binding region
IQCB1	TF binding region
EAF2	TF binding region
GOLGB1	CpG island
ENSG00000263678	CpG island
SLC15A2	CpG island
IQCB1	CpG island
EAF2	CpG island
ENSG00000134905	chromatin interactions
ENSG00000083845	chromatin interactions
ENSG00000262728	chromatin interactions
ENSG00000051341	chromatin interactions
ENSG00000171861	chromatin interactions
ENSG00000103254	chromatin interactions
ENSG00000069424	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000070269	chromatin interactions
ENSG00000160124	chromatin interactions
ENSG00000198826	chromatin interactions
ENSG00000163406	chromatin interactions
ENSG00000184786	chromatin interactions
ENSG00000163755	chromatin interactions
ENSG00000263678	chromatin interactions
ENSG00000086061	chromatin interactions
ENSG00000145088	chromatin interactions
ENSG00000225697	chromatin interactions
ENSG00000243544	chromatin interactions
ENSG00000100813	chromatin interactions
ENSG00000145495	chromatin interactions
ENSG00000179933	chromatin interactions
ENSG00000173226	chromatin interactions
ENSG00000173230	chromatin interactions
ENSG00000114023	chromatin interactions
ENSG00000130023	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000259802	chromatin interactions
ENSG00000132002	chromatin interactions
ENSG00000183208	chromatin interactions
ENSG00000185043	chromatin interactions
ENSG00000167699	chromatin interactions
ENSG00000266640	chromatin interactions
ENSG00000152291	chromatin interactions
ENSG00000157557	chromatin interactions
ENSG00000137074	chromatin interactions
ENSG00000221869	chromatin interactions

Extended variants
information (count: 8749 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:8749 , 50 per page) page: 1 2 3 4 5 6 7 ... 175

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10049460	chr3:121419301-121419302	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192303255	chr3:121419326-121419327	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546345507	chr3:121419383-121419384	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538242888	chr3:121419391-121419392	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs79258785	chr3:121419401-121419402	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs541623408	chr3:121419447-121419448	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558441302	chr3:121419472-121419473	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575190023	chr3:121419499-121419500	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183721345	chr3:121419542-121419543	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554599481	chr3:121419582-121419583	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs574441282	chr3:121419599-121419600	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145924295	chr3:121419604-121419605	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560621757	chr3:121419622-121419623	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577536751	chr3:121419677-121419678	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs60255989	chr3:121419682-121419683	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187700930	chr3:121419688-121419689	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532078586	chr3:121419689-121419690	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548280978	chr3:121419705-121419706	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs192570895	chr3:121419746-121419747	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562121223	chr3:121419832-121419833	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs561265624	chr3:121419833-121419834	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138850314	chr3:121419904-121419905	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184242985	chr3:121419940-121419941	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566294680	chr3:121420102-121420103	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs190001081	chr3:121420130-121420131	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs551983971	chr3:121420246-121420247	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs569057294	chr3:121420257-121420258	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs141314390	chr3:121420323-121420324	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538182298	chr3:121420333-121420334	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs554228283	chr3:121420342-121420343	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs574377404	chr3:121420390-121420391	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs116470131	chr3:121420437-121420438	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs553923777	chr3:121420443-121420444	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs367969500	chr3:121420460-121420461	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs111688374	chr3:121420477-121420478	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs149270634	chr3:121420621-121420622	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs28373454	chr3:121420681-121420682	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115580378	chr3:121420690-121420691	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370248535	chr3:121420710-121420711	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181126085	chr3:121420748-121420749	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572617394	chr3:121420757-121420758	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561902907	chr3:121420763-121420764	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542675575	chr3:121420784-121420785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7646585	chr3:121420786-121420787	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs369352084	chr3:121420808-121420809	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs35880925	chr3:121420823-121420824	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564221546	chr3:121420837-121420838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184726317	chr3:121420856-121420857	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190043488	chr3:121420857-121420858	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180790126	chr3:121420859-121420860	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5291 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121386600-121447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:121396800-121435600	Weak transcription	Psoas Muscle	Psoas
3	chr3:121399000-121425400	Weak transcription	Pancreas	Pancrea
4	chr3:121399000-121426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:121399000-121440400	Weak transcription	K562	blood
6	chr3:121401200-121429400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:121401200-121434000	Weak transcription	Gastric	stomach
8	chr3:121404000-121432800	Weak transcription	Brain Angular Gyrus	brain
9	chr3:121407400-121429400	Weak transcription	Esophagus	oesophagus
10	chr3:121408200-121422400	Strong transcription	Placenta	Placenta
11	chr3:121408200-121428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:121408400-121421000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:121408400-121421600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:121408600-121420400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:121408600-121421400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr3:121408600-121421600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:121408600-121421600	Strong transcription	Primary T cells from cord blood	blood
18	chr3:121408600-121421800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:121408600-121421800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:121408600-121422800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:121408600-121424600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:121408600-121424800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:121408600-121424800	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr3:121408600-121427400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:121408600-121428200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr3:121408800-121422800	Strong transcription	Primary B cells from cord blood	blood
27	chr3:121408800-121424800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:121409000-121421800	Strong transcription	HSMM	muscle
29	chr3:121410400-121435600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:121410800-121424400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:121411000-121421200	Strong transcription	GM12878-XiMat	blood
32	chr3:121411000-121432000	Weak transcription	NHEK	skin
33	chr3:121411000-121432800	Weak transcription	Fetal Brain Male	brain
34	chr3:121411000-121442400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:121411400-121432800	Weak transcription	Colonic Mucosa	Colon
36	chr3:121411400-121437200	Weak transcription	Small Intestine	intestine
37	chr3:121412200-121423200	Weak transcription	Fetal Intestine Small	intestine
38	chr3:121412800-121421200	Strong transcription	HepG2	liver
39	chr3:121413000-121421600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:121413400-121446200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:121413600-121421400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr3:121414200-121428000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:121414600-121422400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:121414800-121421400	Strong transcription	NHDF-Ad	bronchial
45	chr3:121414800-121436200	Weak transcription	Stomach Mucosa	stomach
46	chr3:121415000-121419400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:121415200-121422600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr3:121415200-121422600	Strong transcription	Fetal Intestine Large	intestine
49	chr3:121415400-121424800	Strong transcription	Liver	Liver
50	chr3:121415400-121427400	Strong transcription	Monocytes-CD14+_RO01746	blood

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