Variant report

Variant	rs17119418
Chromosome Location	chr12:57472749-57472750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:57471760-57473219	A549	lung:	n/a	chr12:57472321-57472331
2	SP1	chr12:57472165-57473157	A549	lung:	n/a	chr12:57472626-57472647 chr12:57472681-57472690 chr12:57472680-57472692 chr12:57472680-57472692 chr12:57472842-57472863 chr12:57472706-57472717 chr12:57472681-57472695 chr12:57472680-57472691
3	STAT3	chr12:57472537-57472803	MCF10A-Er-Src	breast:	n/a	n/a
4	GABPA	chr12:57472424-57472865	GM12878	blood:	n/a	n/a
5	TAF1	chr12:57472254-57472983	K562	blood:	n/a	n/a
6	TBP	chr12:57472402-57473183	GM12878	blood:	n/a	n/a
7	TRIM28	chr12:57471947-57473158	K562	blood:	n/a	n/a
8	FOXA2	chr12:57472387-57473151	A549	lung:	n/a	n/a
9	RFX5	chr12:57472395-57472911	HepG2	liver:	n/a	chr12:57472689-57472698 chr12:57472687-57472701 chr12:57472564-57472573
10	NFIC	chr12:57472262-57473174	GM12878	blood:	n/a	n/a
11	SRF	chr12:57472740-57472992	GM12878	blood:	n/a	n/a
12	EP300	chr12:57472376-57473240	K562	blood:	n/a	n/a
13	SP2	chr12:57472334-57473066	H1-hESC	embryonic stem cell:	n/a	chr12:57472581-57472604 chr12:57472628-57472638 chr12:57472702-57472717 chr12:57472680-57472695 chr12:57472683-57472692 chr12:57472827-57472850
14	POLR2A	chr12:57472201-57473104	SK-N-SH	brain:	n/a	n/a
15	MAFF	chr12:57472644-57472858	K562	blood:	n/a	n/a
16	MXI1	chr12:57471959-57473128	GM12878	blood:	n/a	n/a
17	USF2	chr12:57472361-57472969	Hela-S3	cervix:	n/a	chr12:57472552-57472561 chr12:57472551-57472560 chr12:57472545-57472566 chr12:57472381-57472397 chr12:57472551-57472560
18	FOXA2	chr12:57472400-57473302	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:57471777-57473102	K562	blood:	n/a	n/a
20	FOXA1	chr12:57472411-57472979	T-47D	breast:	n/a	n/a
21	POLR2A	chr12:57472717-57473146	Hela-S3	cervix:	n/a	n/a
22	SP1	chr12:57472277-57473080	GM12878	blood:	n/a	chr12:57472626-57472647 chr12:57472681-57472690 chr12:57472680-57472692 chr12:57472680-57472692 chr12:57472842-57472863 chr12:57472706-57472717 chr12:57472681-57472695 chr12:57472680-57472691
23	POLR2A	chr12:57471953-57473177	GM18505	blood:	n/a	n/a
24	YY1	chr12:57472184-57472852	H1-hESC	embryonic stem cell:	n/a	chr12:57472320-57472334
25	POLR2A	chr12:57472135-57473082	HCT-116	colon:	n/a	n/a
26	ZBTB7A	chr12:57472657-57472895	HepG2	liver:	n/a	chr12:57472685-57472692
27	MAZ	chr12:57472290-57473009	Hela-S3	cervix:	n/a	chr12:57472321-57472331
28	YY1	chr12:57472239-57472780	GM12891	blood:	n/a	chr12:57472320-57472334
29	RELA	chr12:57471978-57473054	GM15510	blood:	n/a	n/a
30	CREB1	chr12:57472323-57473047	ECC-1	luminal epithelium:	n/a	n/a
31	ELF1	chr12:57472151-57473042	GM12878	blood:	n/a	n/a
32	TBP	chr12:57471892-57473087	K562	blood:	n/a	n/a
33	TCF7L2	chr12:57472203-57473051	HCT-116	colon:	n/a	n/a
34	SP2	chr12:57472336-57473086	HepG2	liver:	n/a	chr12:57472581-57472604 chr12:57472628-57472638 chr12:57472702-57472717 chr12:57472680-57472695 chr12:57472683-57472692 chr12:57472827-57472850
35	RFX5	chr12:57472353-57473192	Hela-S3	cervix:	n/a	chr12:57472689-57472698 chr12:57472687-57472701 chr12:57472564-57472573
36	MAX	chr12:57472363-57472984	Hela-S3	cervix:	n/a	n/a
37	MAX	chr12:57472010-57473185	HCT-116	colon:	n/a	chr12:57472321-57472331
38	POLR2A	chr12:57471954-57473103	IMR90	lung:	n/a	n/a
39	MXI1	chr12:57472336-57472976	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr12:57471953-57473207	A549	lung:	n/a	n/a
41	YY1	chr12:57471898-57472829	ECC-1	luminal epithelium:	n/a	chr12:57472320-57472334
42	NFYA	chr12:57472356-57473132	K562	blood:	n/a	chr12:57472625-57472640 chr12:57472625-57472643 chr12:57472625-57472639 chr12:57472624-57472636 chr12:57472625-57472640
43	HCFC1	chr12:57472246-57473027	K562	blood:	n/a	n/a
44	CREB1	chr12:57472081-57473032	HepG2	liver:	n/a	n/a
45	USF2	chr12:57472333-57472752	H1-hESC	embryonic stem cell:	n/a	chr12:57472552-57472561 chr12:57472551-57472560 chr12:57472545-57472566 chr12:57472381-57472397 chr12:57472551-57472560
46	GTF2F1	chr12:57472405-57473047	Hela-S3	cervix:	n/a	n/a
47	E2F6	chr12:57472144-57473059	H1-hESC	embryonic stem cell:	n/a	chr12:57472711-57472718 chr12:57472162-57472169 chr12:57472516-57472527 chr12:57472711-57472718 chr12:57472707-57472719 chr12:57472711-57472718 chr12:57472710-57472719
48	SRF	chr12:57472669-57473035	K562	blood:	n/a	n/a
49	POU2F2	chr12:57472206-57472972	GM12878	blood:	n/a	chr12:57472357-57472369
50	FOXM1	chr12:57471824-57473146	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57472712-57472762	Jurkat	blood:	n/a
2	chr12:57472712-57472762	HNPCEpiC	eye:	n/a
3	chr12:57472712-57472762	HCF	heart:	n/a
4	chr12:57472712-57472762	Caco-2	colon:	n/a
5	chr12:57472712-57472762	RPTEC	kidney:	n/a
6	chr12:57472712-57472762	K562	blood:	n/a
7	chr12:57472712-57472762	GM12892	blood:	n/a
8	chr12:57472712-57472762	H1-hESC	embryonic stem cell:	embryo
9	chr12:57472712-57472762	NH-A	brain:	n/a
10	chr12:57472712-57472762	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:57472712-57472762	AG04450	lung:	fetal
12	chr12:57472712-57472762	ovcar-3	ovarian:	n/a
13	chr12:57472712-57472762	IMR90	lung:	fetal
14	chr12:57472712-57472762	MCF10A-Er-Src	breast:	n/a
15	chr12:57472712-57472762	NT2-D1	testis:	n/a
16	chr12:57472712-57472762	HCPEpiC	choroid plexus:	n/a
17	chr12:57472712-57472762	SK-N-MC	brain:	n/a
18	chr12:57472712-57472762	NHDF-neo	bronchial:	n/a
19	chr12:57472712-57472762	A549	lung:	n/a
20	chr12:57472712-57472762	AG09319	gingival:	n/a
21	chr12:57472712-57472762	HAEpiC	amniotic membrane:	n/a
22	chr12:57472712-57472762	GM19239	blood:	n/a
23	chr12:57472712-57472762	PANC-1	pancreas:	n/a
24	chr12:57472712-57472762	CMK	blood:	n/a
25	chr12:57472712-57472762	BJ	skin:	n/a
26	chr12:57472712-57472762	HRE	kidney:	n/a
27	chr12:57472712-57472762	Hepatocyte	liver:	n/a
28	chr12:57472712-57472762	Hela-S3	cervix:	n/a
29	chr12:57472712-57472762	BE2_C	brain:	n/a
30	chr12:57472712-57472762	SKMC	muscle:	n/a
31	chr12:57472712-57472762	AG10803	skin:	n/a
32	chr12:57472712-57472762	HRPEpiC	eye:	n/a
33	chr12:57472712-57472762	AoSMC	blood vessel:	n/a
34	chr12:57472712-57472762	LNCaP	prostate:	n/a
35	chr12:57472712-57472762	HCT-116	colon:	n/a
36	chr12:57472712-57472762	HCM	heart:	n/a
37	chr12:57472712-57472762	SAEC	small airway:	n/a
38	chr12:57472712-57472762	NB4	blood:	n/a
39	chr12:57472712-57472762	NHBE	bronchial:	n/a
40	chr12:57472712-57472762	HL-60	blood:	n/a
41	chr12:57472712-57472762	ECC-1	luminal epithelium:	n/a
42	chr12:57472712-57472762	U87	brain:	n/a
43	chr12:57472712-57472762	HUVEC	blood vessel:	n/a
44	chr12:57472712-57472762	T-47D	breast:	n/a
45	chr12:57472712-57472762	MCF-7	breast:	n/a
46	chr12:57472712-57472762	HEK293	kidney:	embryo
47	chr12:57472712-57472762	GM06990	blood:	n/a
48	chr12:57472712-57472762	PrEC	prostate:	n/a
49	chr12:57472712-57472762	ProgFib	skin:	n/a
50	chr12:57472712-57472762	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57470985..57473736-chr12:57560913..57563302,2	K562	blood:
2	chr11:73693535..73694204-chr12:57472203..57472855,2	NB4	blood:
3	chr12:57472143..57472841-chr17:30677098..30678062,2	Hela-S3	cervix:
4	chr12:57471947..57473213-chr6:27114313..27115275,3	Hela-S3	cervix:
5	chr12:57472051..57472818-chr3:186856791..186857597,2	Hela-S3	cervix:
6	chr12:57398623..57401161-chr12:57471695..57473634,2	MCF-7	breast:
7	chr12:57472055..57474451-chr13:50366783..50368850,2	K562	blood:
8	chr12:57472467..57474129-chr12:57624137..57625986,2	K562	blood:

Variant related genes	Relation type
TMEM194A	TF binding region
TMEM194A	CpG island
ENSG00000197903	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000182199	Chromatin interaction
ENSG00000166860	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000207928	Chromatin interaction
ENSG00000163923	Chromatin interaction
ENSG00000102753	Chromatin interaction
ENSG00000010244	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10400412	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10400555	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1044939	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10506350	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10506351	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1072670	1.00[JPT][hapmap]
rs11834851	1.00[JPT][hapmap]
rs12099695	0.90[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12810024	0.92[CHD][hapmap];0.86[JPT][hapmap]
rs1552245	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17119301	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17119327	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17119330	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17119344	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17119352	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17119386	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17119388	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17119390	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17119407	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17119416	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2035545	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2233267	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2270736	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2270737	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2270739	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2279373	0.90[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2279743	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2291855	0.82[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2371717	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3024974	0.90[CEU][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs3024975	0.90[CEU][hapmap];0.83[AMR][1000 genomes]
rs34762603	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34969650	0.81[ASN][1000 genomes]
rs35493121	0.90[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35937600	0.92[ASN][1000 genomes]
rs3759134	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3759135	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3782329	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3782330	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3803018	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4016338	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4039	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4143085	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56128678	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56270558	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56354404	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57056392	0.88[ASN][1000 genomes]
rs57558853	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58298943	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58389529	0.87[ASN][1000 genomes]
rs60273384	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61504157	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66741626	0.89[ASN][1000 genomes]
rs67476535	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68126184	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs697222	0.81[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7135297	0.98[ASN][1000 genomes]
rs7136770	1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap]
rs7298475	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73114426	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73114428	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73114434	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73114436	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73114437	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73114446	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73114452	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73114457	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73114459	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73114467	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73114468	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73114472	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73116494	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73116501	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73118413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118416	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73118418	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73131120	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs733629	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs746049	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs754398	0.83[ASN][1000 genomes]
rs755221	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7961920	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7962771	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972615	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs901068	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57448000-57472800	Weak transcription	Fetal Heart	heart
2	chr12:57452600-57472800	Weak transcription	Fetal Brain Male	brain
3	chr12:57471000-57473000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr12:57471200-57473200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:57471200-57473200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:57471200-57473200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:57471200-57473200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr12:57471200-57473200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:57471200-57473200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:57471200-57473200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:57471200-57473200	Active TSS	GM12878-XiMat	blood
12	chr12:57471200-57473200	Active TSS	Hela-S3	cervix
13	chr12:57471200-57473200	Active TSS	HMEC	breast
14	chr12:57471200-57473200	Active TSS	K562	blood
15	chr12:57471200-57473200	Active TSS	NHEK	skin
16	chr12:57471200-57473200	Active TSS	NHLF	lung
17	chr12:57471200-57473400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:57471400-57472800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:57471400-57473000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr12:57471400-57473200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr12:57471400-57473200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:57471400-57473200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr12:57471400-57473200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:57471400-57473200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:57471400-57473200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:57471400-57473200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:57471400-57473200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:57471400-57473200	Active TSS	Fetal Kidney	kidney
29	chr12:57471400-57473200	Active TSS	A549	lung
30	chr12:57471400-57473200	Active TSS	NH-A	brain
31	chr12:57471400-57473200	Active TSS	NHDF-Ad	bronchial
32	chr12:57471400-57473400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:57471400-57473400	Active TSS	Thymus	Thymus
34	chr12:57471400-57473600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:57471600-57473000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr12:57471600-57473000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:57471600-57473000	Active TSS	Primary T cells from cord blood	blood
38	chr12:57471600-57473000	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr12:57471600-57473000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:57471600-57473200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:57471600-57473200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:57471600-57473200	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr12:57471600-57473200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr12:57471600-57473200	Active TSS	Fetal Intestine Small	intestine
45	chr12:57471600-57473200	Active TSS	Dnd41	blood
46	chr12:57471600-57473200	Active TSS	HepG2	liver
47	chr12:57471600-57473200	Active TSS	HSMM	muscle
48	chr12:57471600-57473200	Active TSS	Osteobl	bone
49	chr12:57471600-57473400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:57471600-57473400	Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links