Variant report

Variant	rs17101919
Chromosome Location	chr14:65007547-65007548
allele	G/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	POLR2A	chr14:65006781-65007688	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:65007378-65007676	GM12891	blood:	n/a	n/a
3	POLR2A	chr14:65006815-65007683	GM12891	blood:	n/a	n/a
4	ELF1	chr14:65006598-65008093	GM12878	blood:	n/a	chr14:65007278-65007290
5	POLR2A	chr14:65006541-65007810	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:65006844-65007766	GM12892	blood:	n/a	n/a
7	NFYA	chr14:65006839-65007779	Hela-S3	cervix:	n/a	chr14:65007085-65007095 chr14:65007082-65007097 chr14:65007086-65007098 chr14:65007082-65007097 chr14:65007083-65007097
8	RUNX3	chr14:65006728-65007639	GM12878	blood:	n/a	n/a
9	PBX3	chr14:65006835-65007689	A549	lung:	n/a	chr14:65007089-65007109 chr14:65007085-65007094 chr14:65007319-65007339
10	SP2	chr14:65006727-65007584	H1-hESC	embryonic stem cell:	n/a	chr14:65007084-65007094 chr14:65007088-65007111 chr14:65007318-65007341
11	HCFC1	chr14:65006646-65007711	Hela-S3	cervix:	n/a	n/a
12	TBP	chr14:65006980-65007659	GM12878	blood:	n/a	n/a
13	CTCF	chr14:65006836-65007736	MCF-7	breast:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
14	HA-E2F1	chr14:65005879-65007597	MCF-7	breast:	n/a	chr14:65006336-65006347 chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
15	SMARCB1	chr14:65006135-65007636	Hela-S3	cervix:	n/a	n/a
16	ETS1	chr14:65007173-65007678	A549	lung:	n/a	chr14:65007280-65007293 chr14:65007434-65007443
17	POLR2A	chr14:65007271-65007760	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr14:65006515-65007715	PANC-1	pancreas:	n/a	n/a
19	TAF1	chr14:65007269-65007670	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:65005875-65007822	MCF-7	breast:	n/a	n/a
21	CHD2	chr14:65006762-65007757	H1-hESC	embryonic stem cell:	n/a	chr14:65007446-65007456
22	POLR2A	chr14:65006635-65007738	GM18526	blood:	n/a	n/a
23	TCF12	chr14:65005596-65008103	A549	lung:	n/a	chr14:65006321-65006331 chr14:65007152-65007159
24	POLR2A	chr14:65007334-65007789	GM12878	blood:	n/a	n/a
25	TAF1	chr14:65006490-65007714	H1-hESC	embryonic stem cell:	n/a	n/a
26	NFIC	chr14:65006584-65007679	ECC-1	luminal epithelium:	n/a	n/a
27	ZNF263	chr14:65006895-65008475	HEK293-T-REx	kidney:	n/a	chr14:65007038-65007059 chr14:65007052-65007061
28	CREB1	chr14:65007297-65007570	A549	lung:	n/a	n/a
29	POLR2A	chr14:65006885-65007671	GM10847	blood:	n/a	n/a
30	CREB1	chr14:65006841-65007573	HepG2	liver:	n/a	n/a
31	HNF4A	chr14:65006929-65007629	HepG2	liver:	n/a	chr14:65007124-65007139
32	POLR2A	chr14:65007285-65007704	GM12892	blood:	n/a	n/a
33	SIN3AK20	chr14:65007303-65007705	A549	lung:	n/a	n/a
34	POLR2A	chr14:65006521-65007737	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr14:65006420-65007847	GM12892	blood:	n/a	n/a
36	POU2F2	chr14:65006849-65007636	GM12878	blood:	n/a	chr14:65007245-65007255 chr14:65007243-65007258 chr14:65007245-65007255 chr14:65007246-65007257 chr14:65007246-65007256
37	MYC	chr14:65007453-65007824	MCF-7	breast:	n/a	n/a
38	POLR2A	chr14:65006767-65007719	U87	brain:	n/a	n/a
39	YY1	chr14:65006818-65007582	GM12878	blood:	n/a	chr14:65007092-65007106
40	TCF3	chr14:65006971-65007665	GM12878	blood:	n/a	chr14:65007152-65007165
41	SP2	chr14:65006858-65007594	H1-hESC	embryonic stem cell:	n/a	chr14:65007084-65007094 chr14:65007088-65007111 chr14:65007318-65007341
42	ELF1	chr14:65006533-65009416	MCF-7	breast:	n/a	chr14:65007278-65007290
43	POLR2A	chr14:65007240-65007649	HL-60	blood:	n/a	n/a
44	POLR2A	chr14:65006017-65008275	MCF-7	breast:	n/a	n/a
45	SIN3AK20	chr14:65007319-65007761	A549	lung:	n/a	n/a
46	POLR2A	chr14:65007241-65007718	GM12891	blood:	n/a	n/a
47	REST	chr14:65007321-65007830	A549	lung:	n/a	chr14:65007468-65007486 chr14:65007430-65007448 chr14:65007389-65007399 chr14:65007384-65007397 chr14:65007449-65007459
48	POLR2A	chr14:65006820-65007833	A549	lung:	n/a	n/a
49	MAX	chr14:65006531-65007752	ECC-1	luminal epithelium:	n/a	n/a
50	TEAD4	chr14:65006696-65007631	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65007512-65007562	SAEC	small airway:	n/a
2	chr14:65007512-65007562	SK-N-SH_RA	brain:	n/a
3	chr14:65007512-65007562	NB4	blood:	n/a
4	chr14:65007512-65007562	HEK293	kidney:	embryo
5	chr14:65007512-65007562	HAEpiC	amniotic membrane:	n/a
6	chr14:65007512-65007562	HEEpiC	esophagus:	n/a
7	chr14:65007512-65007562	PrEC	prostate:	n/a
8	chr14:65007512-65007562	BJ	skin:	n/a
9	chr14:65007512-65007562	AG09309	skin:	n/a
10	chr14:65007512-65007562	K562	blood:	n/a
11	chr14:65007512-65007562	AG04450	lung:	fetal
12	chr14:65007512-65007562	HCF	heart:	n/a
13	chr14:65007512-65007562	HepG2	liver:	n/a
14	chr14:65007512-65007562	Jurkat	blood:	n/a
15	chr14:65007512-65007562	T-47D	breast:	n/a
16	chr14:65007512-65007562	U87	brain:	n/a
17	chr14:65007512-65007562	MCF-7	breast:	n/a
18	chr14:65007512-65007562	HCT-116	colon:	n/a
19	chr14:65007512-65007562	BE2_C	brain:	n/a
20	chr14:65007512-65007562	Hela-S3	cervix:	n/a
21	chr14:65007512-65007562	AG04449	skin:	fetal
22	chr14:65007512-65007562	HL-60	blood:	n/a
23	chr14:65007512-65007562	HMEC	breast:	n/a
24	chr14:65007512-65007562	HRPEpiC	eye:	n/a
25	chr14:65007512-65007562	GM19239	blood:	n/a
26	chr14:65007512-65007562	HPAEpiC	pulmonary alveolar:	n/a
27	chr14:65007512-65007562	SK-N-SH	brain:	n/a
28	chr14:65007512-65007562	GM12892	blood:	n/a
29	chr14:65007512-65007562	CMK	blood:	n/a
30	chr14:65007512-65007562	NHDF-neo	bronchial:	n/a
31	chr14:65007512-65007562	LNCaP	prostate:	n/a
32	chr14:65007512-65007562	HNPCEpiC	eye:	n/a
33	chr14:65007512-65007562	RPTEC	kidney:	n/a
34	chr14:65007512-65007562	ProgFib	skin:	n/a
35	chr14:65007512-65007562	SKMC	muscle:	n/a
36	chr14:65007512-65007562	Hepatocyte	liver:	n/a
37	chr14:65007512-65007562	IMR90	lung:	fetal
38	chr14:65007512-65007562	MCF10A-Er-Src	breast:	n/a
39	chr14:65007512-65007562	AG09319	gingival:	n/a
40	chr14:65007512-65007562	NH-A	brain:	n/a
41	chr14:65007512-65007562	NT2-D1	testis:	n/a
42	chr14:65007512-65007562	NHBE	bronchial:	n/a
43	chr14:65007512-65007562	PFSK-1	brain:	n/a
44	chr14:65007512-65007562	GM12891	blood:	n/a
45	chr14:65007512-65007562	HRE	kidney:	n/a
46	chr14:65007512-65007562	AG10803	skin:	n/a
47	chr14:65007512-65007562	HRCEpiC	kidney:	n/a
48	chr14:65007512-65007562	ECC-1	luminal epithelium:	n/a
49	chr14:65007512-65007562	HCM	heart:	n/a
50	chr14:65007512-65007562	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65005458..65007740-chr14:65223841..65226148,2	MCF-7	breast:
2	chr14:65006961..65009286-chr14:65016299..65018796,2	K562	blood:
3	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
4	chr14:65006752..65008464-chr14:65051582..65054161,2	MCF-7	breast:
5	chr14:65005138..65007971-chr14:65016762..65019337,2	MCF-7	breast:
6	chr14:64803941..64806112-chr14:65005957..65008329,2	MCF-7	breast:
7	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
8	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259116	TF binding region
ENSG00000259160	TF binding region
ENSG00000259116	CpG island
ENSG00000259160	CpG island
ENSG00000070182	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000165807	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10498514	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs11844318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848452	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849167	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850644	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851751	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101851	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17101854	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102000	1.00[MEX][hapmap]
rs17102018	1.00[MEX][hapmap]
rs17102019	1.00[MEX][hapmap]
rs17102026	1.00[MEX][hapmap]
rs17751805	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2123464	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295638	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2295639	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs35062852	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35287494	0.88[LWK][hapmap]
rs45472695	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45498699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45523434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45526332	0.91[AFR][1000 genomes]
rs45608633	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57092929	0.83[EUR][1000 genomes]
rs59096477	0.94[EUR][1000 genomes]
rs59397130	0.94[EUR][1000 genomes]
rs59403712	0.94[EUR][1000 genomes]
rs59422037	0.94[EUR][1000 genomes]
rs59686564	0.94[EUR][1000 genomes]
rs59770063	0.94[EUR][1000 genomes]
rs60063929	0.94[EUR][1000 genomes]
rs60806768	0.94[EUR][1000 genomes]
rs61107070	0.94[EUR][1000 genomes]
rs61288516	1.00[ASN][1000 genomes]
rs61290360	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263767	0.94[EUR][1000 genomes]
rs73263770	0.94[EUR][1000 genomes]
rs73263773	0.94[EUR][1000 genomes]
rs73263781	0.94[EUR][1000 genomes]
rs73263782	0.94[EUR][1000 genomes]
rs73277968	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277970	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277972	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277975	0.94[EUR][1000 genomes]
rs73277976	0.94[EUR][1000 genomes]
rs73277977	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277979	0.94[EUR][1000 genomes]
rs73277985	0.94[EUR][1000 genomes]
rs8019215	0.94[EUR][1000 genomes]
rs8022867	0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390097	chr14:65002586-65009255	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65005800-65007600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr14:65005800-65007600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:65005800-65007600	Active TSS	Colonic Mucosa	Colon
4	chr14:65005800-65007600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr14:65005800-65007600	Active TSS	Esophagus	oesophagus
6	chr14:65005800-65007600	Active TSS	Rectal Smooth Muscle	rectum
7	chr14:65005800-65007600	Active TSS	Osteobl	bone
8	chr14:65005800-65010200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:65005800-65011600	Active TSS	Brain Anterior Caudate	brain
10	chr14:65005800-65012000	Active TSS	Brain Angular Gyrus	brain
11	chr14:65005800-65012000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:65006000-65007600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:65006000-65007600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:65006000-65007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:65006000-65007600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr14:65006000-65007600	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr14:65006000-65007600	Active TSS	Left Ventricle	heart
18	chr14:65006000-65007600	Active TSS	Stomach Mucosa	stomach
19	chr14:65006000-65007800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr14:65006000-65008600	Active TSS	Right Atrium	heart
21	chr14:65006000-65010400	Active TSS	Aorta	Aorta
22	chr14:65006000-65011400	Active TSS	Colon Smooth Muscle	Colon
23	chr14:65006000-65012000	Active TSS	Brain Substantia Nigra	brain
24	chr14:65006200-65007600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:65006200-65007600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr14:65006200-65007600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:65006200-65007600	Active TSS	Gastric	stomach
28	chr14:65006200-65007600	Active TSS	Lung	lung
29	chr14:65006200-65007600	Active TSS	Ovary	ovary
30	chr14:65006200-65007600	Active TSS	HSMM	muscle
31	chr14:65006200-65007600	Active TSS	NHDF-Ad	bronchial
32	chr14:65006200-65007800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:65006200-65007800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:65006200-65007800	Active TSS	Small Intestine	intestine
35	chr14:65006200-65007800	Active TSS	A549	lung
36	chr14:65006200-65010200	Active TSS	Psoas Muscle	Psoas
37	chr14:65006400-65007600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:65006400-65007600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:65006400-65007600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:65006400-65007600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:65006400-65007600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:65006400-65007600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:65006400-65007600	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr14:65006400-65007600	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr14:65006400-65007600	Active TSS	Stomach Smooth Muscle	stomach
46	chr14:65006400-65007600	Active TSS	Hela-S3	cervix
47	chr14:65006400-65007600	Active TSS	HepG2	liver
48	chr14:65006400-65007600	Active TSS	NHLF	lung
49	chr14:65006400-65007800	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr14:65006400-65007800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links