Variant report

Variant	nsv829703
Chromosome Location	chr3:121383290-121534493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1225)
CpG islands
(count:1039)
Chromatin interactive
region (count:124)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

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	chr3:121523332-121523538	K562	blood:	n/a	n/a
3	ARID3A	chr3:121468403-121468989	K562	blood:	n/a	n/a
4	ARID3A	chr3:121467807-121469274	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:121462983-121463054	K562	blood:	n/a	n/a
6	ATF1	chr3:121468484-121469028	K562	blood:	n/a	chr3:121468524-121468538
7	ATF2	chr3:121528006-121528576	GM12878	blood:	n/a	n/a
8	ATF2	chr3:121468395-121469101	GM12878	blood:	n/a	chr3:121468524-121468538
9	ATF2	chr3:121468423-121468994	H1-hESC	embryonic stem cell:	n/a	chr3:121468524-121468538
10	ATF2	chr3:121454131-121454588	GM12878	blood:	n/a	n/a
11	ATF2	chr3:121528089-121528693	GM12878	blood:	n/a	n/a
12	ATF2	chr3:121467974-121468305	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr3:121453881-121454600	GM12878	blood:	n/a	n/a
14	ATF2	chr3:121442824-121443362	GM12878	blood:	n/a	n/a
15	ATF3	chr3:121468342-121468877	A549	lung:	n/a	chr3:121468527-121468547 chr3:121468567-121468576
16	BACH1	chr3:121508656-121508683	K562	blood:	n/a	n/a
17	BACH1	chr3:121468537-121468931	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr3:121454203-121454501	GM12878	blood:	n/a	n/a
19	BATF	chr3:121411145-121411408	GM12878	blood:	n/a	n/a
20	BATF	chr3:121454227-121454518	GM12878	blood:	n/a	n/a
21	BATF	chr3:121409958-121410240	GM12878	blood:	n/a	chr3:121410034-121410045
22	BATF	chr3:121528193-121528452	GM12878	blood:	n/a	n/a
23	BATF	chr3:121409910-121410215	GM12878	blood:	n/a	chr3:121410034-121410045
24	BATF	chr3:121528186-121528478	GM12878	blood:	n/a	n/a
25	BCL11A	chr3:121454226-121454493	GM12878	blood:	n/a	n/a
26	BCL11A	chr3:121528141-121528529	GM12878	blood:	n/a	chr3:121528342-121528351
27	BCL3	chr3:121468324-121469213	A549	lung:	n/a	chr3:121468829-121468838 chr3:121468566-121468575 chr3:121468400-121468413
28	BCL3	chr3:121486039-121486304	GM12878	blood:	n/a	n/a
29	BCLAF1	chr3:121442806-121443409	GM12878	blood:	n/a	n/a
30	BCLAF1	chr3:121527901-121528529	GM12878	blood:	n/a	chr3:121528342-121528351
31	BCLAF1	chr3:121468281-121469112	GM12878	blood:	n/a	chr3:121468829-121468838 chr3:121468566-121468575 chr3:121468400-121468413
32	BHLHE40	chr3:121454091-121454483	GM12878	blood:	n/a	n/a
33	BHLHE40	chr3:121528124-121528501	GM12878	blood:	n/a	n/a
34	BHLHE40	chr3:121468107-121469016	K562	blood:	n/a	n/a
35	BHLHE40	chr3:121528811-121528910	GM12878	blood:	n/a	n/a
36	BHLHE40	chr3:121456195-121456377	GM12878	blood:	n/a	n/a
37	BHLHE40	chr3:121468051-121469244	GM12878	blood:	n/a	n/a
38	BHLHE40	chr3:121512021-121512249	GM12878	blood:	n/a	n/a
39	BRCA1	chr3:121468553-121468746	GM12878	blood:	n/a	n/a
40	BRCA1	chr3:121412644-121412749	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr3:121468440-121468740	HepG2	liver:	n/a	n/a
42	BRCA1	chr3:121468139-121469061	Hela-S3	cervix:	n/a	n/a
43	CBX3	chr3:121468495-121469072	K562	blood:	n/a	n/a
44	CCNT2	chr3:121468308-121468886	K562	blood:	n/a	n/a
45	CEBPB	chr3:121515199-121515461	A549	lung:	n/a	chr3:121515354-121515365
46	CEBPB	chr3:121509069-121509365	IMR90	lung:	n/a	chr3:121509215-121509226
47	CEBPB	chr3:121488114-121488304	K562	blood:	n/a	chr3:121488283-121488294 chr3:121488282-121488295 chr3:121488282-121488295 chr3:121488282-121488295 chr3:121488284-121488293 chr3:121488284-121488293 chr3:121488284-121488293 chr3:121488284-121488293
48	CEBPB	chr3:121488097-121488482	H1-hESC	embryonic stem cell:	n/a	chr3:121488283-121488294 chr3:121488282-121488295 chr3:121488282-121488295 chr3:121488282-121488295 chr3:121488284-121488293 chr3:121488284-121488293 chr3:121488284-121488293 chr3:121488284-121488293
49	CEBPB	chr3:121488072-121488502	ECC-1	luminal epithelium:	n/a	chr3:121488283-121488294 chr3:121488282-121488295 chr3:121488282-121488295 chr3:121488282-121488295 chr3:121488284-121488293 chr3:121488284-121488293 chr3:121488284-121488293 chr3:121488284-121488293
50	CEBPB	chr3:121488036-121488478	A549	lung:	n/a	chr3:121488283-121488294 chr3:121488282-121488295 chr3:121488282-121488295 chr3:121488282-121488295 chr3:121488284-121488293 chr3:121488284-121488293 chr3:121488284-121488293 chr3:121488284-121488293

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:121468260-121468310	AG04450	lung:	fetal
2	chr3:121468645-121468695	HRPEpiC	eye:	n/a
3	chr3:121468260-121468310	AG04450	lung:	fetal
4	chr3:121468645-121468695	HRPEpiC	eye:	n/a
5	chr3:121468607-121468657	SKMC	muscle:	n/a
6	chr3:121468645-121468695	H1-hESC	embryonic stem cell:	embryo
7	chr3:121468607-121468657	HIPEpiC	eye:	n/a
8	chr3:121468645-121468695	AoSMC	blood vessel:	n/a
9	chr3:121468706-121468756	LNCaP	prostate:	n/a
10	chr3:121468984-121469034	MCF-7	breast:	n/a
11	chr3:121468260-121468310	HEEpiC	esophagus:	n/a
12	chr3:121491382-121491432	MCF10A-Er-Src	breast:	n/a
13	chr3:121468720-121468770	AG10803	skin:	n/a
14	chr3:121468720-121468770	HepG2	liver:	n/a
15	chr3:121453622-121453672	AG09319	gingival:	n/a
16	chr3:121469168-121469218	T-47D	breast:	n/a
17	chr3:121468027-121468077	RPTEC	kidney:	n/a
18	chr3:121468852-121468902	IMR90	lung:	fetal
19	chr3:121468645-121468695	K562	blood:	n/a
20	chr3:121453622-121453672	AG10803	skin:	n/a
21	chr3:121468645-121468695	GM12891	blood:	n/a
22	chr3:121468607-121468657	IMR90	lung:	fetal
23	chr3:121468852-121468902	HCF	heart:	n/a
24	chr3:121468260-121468310	SKMC	muscle:	n/a
25	chr3:121468720-121468770	GM12891	blood:	n/a
26	chr3:121468945-121468995	HCT-116	colon:	n/a
27	chr3:121468706-121468756	HIPEpiC	eye:	n/a
28	chr3:121468607-121468657	ECC-1	luminal epithelium:	n/a
29	chr3:121512184-121512234	BE2_C	brain:	n/a
30	chr3:121491382-121491432	HPAEpiC	pulmonary alveolar:	n/a
31	chr3:121468720-121468770	NHDF-neo	bronchial:	n/a
32	chr3:121468852-121468902	ovcar-3	ovarian:	n/a
33	chr3:121468093-121468143	K562	blood:	n/a
34	chr3:121469168-121469218	SKMC	muscle:	n/a
35	chr3:121468706-121468756	HCM	heart:	n/a
36	chr3:121468093-121468143	GM12891	blood:	n/a
37	chr3:121491382-121491432	IMR90	lung:	fetal
38	chr3:121468628-121468678	T-47D	breast:	n/a
39	chr3:121468984-121469034	HNPCEpiC	eye:	n/a
40	chr3:121491382-121491432	ECC-1	luminal epithelium:	n/a
41	chr3:121468093-121468143	PFSK-1	brain:	n/a
42	chr3:121468945-121468995	A549	lung:	n/a
43	chr3:121468852-121468902	CMK	blood:	n/a
44	chr3:121468027-121468077	HRE	kidney:	n/a
45	chr3:121468093-121468143	LNCaP	prostate:	n/a
46	chr3:121491382-121491432	AG04449	skin:	fetal
47	chr3:121468628-121468678	HL-60	blood:	n/a
48	chr3:121468260-121468310	HepG2	liver:	n/a
49	chr3:121469168-121469218	NH-A	brain:	n/a
50	chr3:121468260-121468310	HCT-116	colon:	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:121263260..121265570-chr3:121468289..121470216,2	K562	blood:
2	chr3:121451393..121453533-chr3:121465182..121467129,2	K562	blood:
3	chr3:121479199..121481073-chr3:121484942..121486900,2	K562	blood:
4	chr3:121476185..121478583-chr3:121487333..121489088,3	K562	blood:
5	chr3:121469093..121470860-chr3:121480115..121482218,2	K562	blood:
6	chr3:121456187..121459032-chr3:121465141..121468523,4	MCF-7	breast:
7	chr3:121420842..121422524-chr3:121426480..121428817,2	MCF-7	breast:
8	chr3:121452203..121455898-chr3:121466900..121469100,3	MCF-7	breast:
9	chr3:121465799..121468529-chr3:121552939..121555166,2	MCF-7	breast:
10	chr3:121452246..121456088-chr3:121463734..121468790,6	MCF-7	breast:
11	chr3:121466883..121469866-chr3:121509905..121511763,2	MCF-7	breast:
12	chr3:121380202..121382389-chr3:121387909..121390057,2	K562	blood:
13	chr3:121457648..121460284-chr3:121467145..121470013,4	K562	blood:
14	chr3:121402372..121403987-chr3:121435580..121437205,2	MCF-7	breast:
15	chr3:121469866..121471508-chr3:121475985..121477623,2	K562	blood:
16	chr3:121429333..121431027-chr3:121468006..121470024,2	MCF-7	breast:
17	chr14:23564396..23565219-chr3:121468037..121468703,2	Hela-S3	cervix:
18	chr13:111365321..111365930-chr3:121468002..121468980,2	Hela-S3	cervix:
19	chr3:121465792..121467849-chr3:121506947..121509810,2	MCF-7	breast:
20	chr3:121402372..121403987-chr3:121435580..121437205,2	MCF-7	breast:
21	chr3:121469877..121471972-chr3:121492602..121496614,3	MCF-7	breast:
22	chr3:121470646..121472980-chr3:121473144..121475007,2	MCF-7	breast:
23	chr3:121518964..121521097-chr3:121656620..121658733,2	MCF-7	breast:
24	chr3:121261975..121264944-chr3:121467360..121470216,3	K562	blood:
25	chr3:121468824..121470576-chr3:121473102..121475078,2	K562	blood:
26	chr3:121447927..121450060-chr3:121456793..121458393,2	K562	blood:
27	chr3:48672419..48673115-chr3:121468693..121469249,2	NB4	blood:
28	chr3:121480892..121483629-chr3:121486983..121489016,2	K562	blood:
29	chr3:121441670..121444797-chr3:121467934..121470201,3	K562	blood:
30	chr3:121467372..121472022-chr3:121479274..121484300,4	K562	blood:
31	chr3:121466769..121469107-chr3:121494508..121496191,2	MCF-7	breast:
32	chr3:121468842..121470508-chr3:121478422..121481372,2	MCF-7	breast:
33	chr3:121381533..121383209-chr3:121385289..121388100,2	MCF-7	breast:
34	chr3:121463605..121466506-chr3:121466686..121468331,2	MCF-7	breast:
35	chr3:121449263..121451677-chr3:121468938..121471042,2	K562	blood:
36	chr3:121515767..121519449-chr3:121522232..121524436,3	MCF-7	breast:
37	chr3:121470646..121472980-chr3:121473144..121475007,2	MCF-7	breast:
38	chr3:121410605..121412788-chr3:121413603..121415735,2	MCF-7	breast:
39	chr14:57046052..57046734-chr3:121468112..121468714,2	Hela-S3	cervix:
40	chr3:121465631..121470383-chr3:122100201..122104501,4	MCF-7	breast:
41	chr3:121417854..121420828-chr3:121422749..121424314,2	K562	blood:
42	chr3:121451393..121453533-chr3:121465182..121467129,2	K562	blood:
43	chr3:121468029..121468701-chr9:33025084..33025810,2	NB4	blood:
44	chr3:121475069..121477684-chr3:121478274..121481254,3	MCF-7	breast:
45	chr3:121448663..121450267-chr3:121453001..121454799,2	K562	blood:
46	chr3:121384342..121386908-chr3:121387953..121390169,2	K562	blood:
47	chr3:121467271..121469348-chr3:121476244..121478922,2	MCF-7	breast:
48	chr3:121420842..121422524-chr3:121426480..121428817,2	MCF-7	breast:
49	chr21:40177696..40178382-chr3:121467811..121468789,2	Hela-S3	cervix:
50	chr3:121417372..121420493-chr3:121467097..121470141,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EAF2-3	chr3:121468132-121470030	NONHSAT091480
2	lnc-EAF2-2	chr3:121487691-121488674	l_2448_chr3:121487690-121490825_testes
3	lnc-EAF2-2	chr3:121489799-121490825	l_2448_chr3:121487690-121490825_testes

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
HCLS1	TF binding region
GOLGB1	TF binding region
HCLS1	CpG island
GOLGB1	CpG island
ENSG00000222057	chromatin interactions
ENSG00000180353	chromatin interactions
ENSG00000243544	chromatin interactions
ENSG00000185043	chromatin interactions
ENSG00000259802	chromatin interactions
ENSG00000262728	chromatin interactions
ENSG00000225697	chromatin interactions
ENSG00000163406	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000051341	chromatin interactions
ENSG00000179933	chromatin interactions
ENSG00000130023	chromatin interactions
ENSG00000160124	chromatin interactions
ENSG00000103254	chromatin interactions
ENSG00000171861	chromatin interactions
ENSG00000145088	chromatin interactions
ENSG00000183208	chromatin interactions
ENSG00000145495	chromatin interactions
ENSG00000157557	chromatin interactions
ENSG00000152291	chromatin interactions
ENSG00000132002	chromatin interactions
ENSG00000184786	chromatin interactions
ENSG00000086061	chromatin interactions
ENSG00000070269	chromatin interactions
ENSG00000167699	chromatin interactions
ENSG00000137074	chromatin interactions
ENSG00000221869	chromatin interactions
ENSG00000173226	chromatin interactions
ENSG00000114023	chromatin interactions
ENSG00000069424	chromatin interactions
ENSG00000198826	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000173230	chromatin interactions
ENSG00000100813	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000163755	chromatin interactions

Extended variants
information (count: 5323 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:5323 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7153	chr3:121383297-121383298	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555918118	chr3:121383324-121383325	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs138092538	chr3:121383335-121383336	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs374345411	chr3:121383340-121383341	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs144359191	chr3:121383348-121383349	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs114624117	chr3:121383427-121383428	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543383996	chr3:121383428-121383429	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373833777	chr3:121383431-121383432	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562025619	chr3:121383450-121383451	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147145432	chr3:121383458-121383459	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs367641559	chr3:121383459-121383460	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199538697	chr3:121383468-121383469	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs544409404	chr3:121383475-121383476	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201706011	chr3:121383506-121383507	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370588538	chr3:121383512-121383513	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533041984	chr3:121383522-121383523	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184203773	chr3:121383526-121383527	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570257854	chr3:121383547-121383548	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368248093	chr3:121383556-121383557	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188840938	chr3:121383564-121383565	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368288715	chr3:121383576-121383577	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563478653	chr3:121383639-121383640	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566387581	chr3:121383657-121383658	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs534677237	chr3:121383670-121383671	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs551737973	chr3:121383710-121383711	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs571337112	chr3:121383741-121383742	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373959315	chr3:121383762-121383763	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs138614748	chr3:121383792-121383793	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs142769092	chr3:121383801-121383802	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs537145207	chr3:121383814-121383815	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs367875657	chr3:121383834-121383835	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs573640886	chr3:121383886-121383887	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs370477809	chr3:121383918-121383919	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs557072843	chr3:121383996-121383997	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs575790774	chr3:121384025-121384026	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs535641166	chr3:121384031-121384032	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs141007076	chr3:121384043-121384044	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs532425524	chr3:121384057-121384058	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs9968051	chr3:121384081-121384082	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs376546154	chr3:121384125-121384126	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562708602	chr3:121384151-121384152	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564085558	chr3:121384171-121384172	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs77282632	chr3:121384210-121384211	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs543505105	chr3:121384218-121384219	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201477181	chr3:121384222-121384223	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs374905229	chr3:121384235-121384236	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs529484631	chr3:121384245-121384246	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs145442765	chr3:121384247-121384248	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs144946853	chr3:121384317-121384318	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs559731582	chr3:121384325-121384326	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4406 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121371000-121383600	Weak transcription	Hela-S3	cervix
2	chr3:121377000-121383600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:121378000-121388400	Strong transcription	Fetal Stomach	stomach
4	chr3:121379000-121384200	Enhancers	Fetal Heart	heart
5	chr3:121379400-121384600	Weak transcription	Fetal Kidney	kidney
6	chr3:121379400-121402400	Strong transcription	Fetal Intestine Large	intestine
7	chr3:121379800-121384200	Genic enhancers	Fetal Muscle Leg	muscle
8	chr3:121380000-121402600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:121380200-121385200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:121380200-121386200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:121380200-121397000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:121380400-121384600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:121380400-121385400	Weak transcription	K562	blood
14	chr3:121380400-121386800	Strong transcription	Brain Anterior Caudate	brain
15	chr3:121380400-121396400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:121380400-121396800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:121380400-121402400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:121380400-121402800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:121380400-121406600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:121380600-121384600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:121380600-121384800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:121380600-121384800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr3:121380600-121413800	Weak transcription	Stomach Mucosa	stomach
24	chr3:121380800-121385000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:121380800-121386600	Strong transcription	HSMM	muscle
26	chr3:121380800-121389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:121381000-121388200	Strong transcription	Fetal Intestine Small	intestine
28	chr3:121381000-121391400	Strong transcription	GM12878-XiMat	blood
29	chr3:121381000-121401800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:121381000-121403200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:121381400-121388400	Strong transcription	Gastric	stomach
32	chr3:121381400-121389000	Strong transcription	Thymus	Thymus
33	chr3:121381400-121389800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:121381400-121406800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr3:121381600-121384000	Genic enhancers	HSMMtube	muscle
36	chr3:121381600-121384600	Strong transcription	Fetal Lung	lung
37	chr3:121381600-121385000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:121381600-121385400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr3:121381600-121385600	Strong transcription	Colonic Mucosa	Colon
40	chr3:121381600-121386800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:121381600-121386800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr3:121381600-121387000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:121381600-121387200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:121381600-121387200	Strong transcription	Brain Germinal Matrix	brain
45	chr3:121381600-121387400	Strong transcription	Brain Hippocampus Middle	brain
46	chr3:121381600-121388200	Strong transcription	Lung	lung
47	chr3:121381600-121388400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:121381600-121388600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:121381600-121388800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr3:121381600-121389000	Strong transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links