Variant report

Variant	rs11159286
Chromosome Location	chr14:78174473-78174474
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:428)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr14:78173797-78175008	MCF-7	breast:	n/a	chr14:78174358-78174373
2	POLR2A	chr14:78174085-78174803	U87	brain:	n/a	n/a
3	POLR2A	chr14:78174059-78174802	K562	blood:	n/a	n/a
4	GABPA	chr14:78173968-78174588	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:78173959-78174872	PFSK-1	brain:	n/a	n/a
6	MYC	chr14:78174074-78174623	MCF-7	breast:	n/a	n/a
7	GABPA	chr14:78174120-78174599	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr14:78174171-78174844	A549	lung:	n/a	n/a
9	CTCF	chr14:78174440-78174590	Caco-2	colon:	n/a	n/a
10	TAF1	chr14:78173822-78174848	MCF-7	breast:	n/a	n/a
11	YY1	chr14:78173770-78174753	GM12891	blood:	n/a	chr14:78173947-78173956
12	REST	chr14:78174284-78174591	PANC-1	pancreas:	n/a	n/a
13	EGR1	chr14:78174089-78174754	ECC-1	luminal epithelium:	n/a	n/a
14	SIN3AK20	chr14:78174348-78174669	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr14:78174119-78175279	K562	blood:	n/a	n/a
16	REST	chr14:78173571-78175140	H1-neurons	neurons:	n/a	n/a
17	MAX	chr14:78173855-78174848	K562	blood:	n/a	n/a
18	YY1	chr14:78173691-78174812	GM12878	blood:	n/a	chr14:78173947-78173956
19	TAF1	chr14:78174018-78174676	H1-neurons	neurons:	n/a	n/a
20	ELK4	chr14:78174157-78175262	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr14:78174120-78174877	K562	blood:	n/a	n/a
22	POLR2A	chr14:78173960-78175334	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:78173829-78175255	GM12878	blood:	n/a	n/a
24	CTCF	chr14:78174420-78174570	GM12873	blood:	n/a	n/a
25	RFX5	chr14:78174167-78174573	HepG2	liver:	n/a	n/a
26	YY1	chr14:78173768-78174724	K562	blood:	n/a	chr14:78173947-78173956
27	POLR2A	chr14:78174098-78174787	H1-hESC	embryonic stem cell:	n/a	n/a
28	GATA3	chr14:78174129-78174664	T-47D	breast:	n/a	n/a
29	TAF1	chr14:78174008-78174646	HepG2	liver:	n/a	n/a
30	YY1	chr14:78173827-78175174	GM12878	blood:	n/a	chr14:78173947-78173956
31	MAX	chr14:78173740-78174905	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr14:78174095-78174626	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:78174025-78174764	MCF-7	breast:	n/a	n/a
34	NFIC	chr14:78174150-78174690	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:78173964-78174806	GM19193	blood:	n/a	n/a
36	MAX	chr14:78173808-78174822	A549	lung:	n/a	n/a
37	POLR2A	chr14:78173942-78175263	SK-N-MC	brain:	n/a	n/a
38	MYC	chr14:78173775-78174874	K562	blood:	n/a	n/a
39	JUND	chr14:78174235-78174834	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:78173770-78175937	GM12878	blood:	n/a	n/a
41	POLR2A	chr14:78173878-78174719	GM18505	blood:	n/a	n/a
42	BCL3	chr14:78174090-78174766	A549	lung:	n/a	n/a
43	SREBP1	chr14:78173414-78177367	GM12878	blood:	n/a	n/a
44	SMC3	chr14:78173604-78174746	Hela-S3	cervix:	n/a	n/a
45	CEBPD	chr14:78174109-78174555	HepG2	liver:	n/a	n/a
46	MYC	chr14:78174275-78174696	Hela-S3	cervix:	n/a	n/a
47	REST	chr14:78174303-78174567	Hela-S3	cervix:	n/a	n/a
48	GATA2	chr14:78174162-78174552	SH-SY5Y	brain:	n/a	n/a
49	EGR1	chr14:78173679-78174848	HCT-116	colon:	n/a	n/a
50	POLR2A	chr14:78174121-78174658	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:78174459-78174509	HAEpiC	amniotic membrane:	n/a
2	chr14:78174459-78174509	HCPEpiC	choroid plexus:	n/a
3	chr14:78174459-78174509	GM12892	blood:	n/a
4	chr14:78174459-78174509	SK-N-SH_RA	brain:	n/a
5	chr14:78174459-78174509	Hepatocyte	liver:	n/a
6	chr14:78174459-78174509	CMK	blood:	n/a
7	chr14:78174459-78174509	HepG2	liver:	n/a
8	chr14:78174459-78174509	AoSMC	blood vessel:	n/a
9	chr14:78174459-78174509	MCF10A-Er-Src	breast:	n/a
10	chr14:78174459-78174509	SAEC	small airway:	n/a
11	chr14:78174459-78174509	Caco-2	colon:	n/a
12	chr14:78174459-78174509	SK-N-SH	brain:	n/a
13	chr14:78174459-78174509	NT2-D1	testis:	n/a
14	chr14:78174459-78174509	BE2_C	brain:	n/a
15	chr14:78174459-78174509	HEK293	kidney:	embryo
16	chr14:78174459-78174509	U87	brain:	n/a
17	chr14:78174459-78174509	Hela-S3	cervix:	n/a
18	chr14:78174459-78174509	ProgFib	skin:	n/a
19	chr14:78174459-78174509	HCM	heart:	n/a
20	chr14:78174459-78174509	H1-hESC	embryonic stem cell:	embryo
21	chr14:78174459-78174509	AG10803	skin:	n/a
22	chr14:78174459-78174509	HNPCEpiC	eye:	n/a
23	chr14:78174459-78174509	NHBE	bronchial:	n/a
24	chr14:78174459-78174509	Jurkat	blood:	n/a
25	chr14:78174459-78174509	HUVEC	blood vessel:	n/a
26	chr14:78174459-78174509	HMEC	breast:	n/a
27	chr14:78174459-78174509	HIPEpiC	eye:	n/a
28	chr14:78174459-78174509	HCF	heart:	n/a
29	chr14:78174459-78174509	NHDF-neo	bronchial:	n/a
30	chr14:78174459-78174509	HPAEpiC	pulmonary alveolar:	n/a
31	chr14:78174459-78174509	T-47D	breast:	n/a
32	chr14:78174459-78174509	IMR90	lung:	fetal
33	chr14:78174459-78174509	GM12878	blood:	n/a
34	chr14:78174459-78174509	HRPEpiC	eye:	n/a
35	chr14:78174459-78174509	PANC-1	pancreas:	n/a
36	chr14:78174459-78174509	AG04450	lung:	fetal
37	chr14:78174459-78174509	AG04449	skin:	fetal
38	chr14:78174459-78174509	ECC-1	luminal epithelium:	n/a
39	chr14:78174459-78174509	SK-N-MC	brain:	n/a
40	chr14:78174459-78174509	SKMC	muscle:	n/a
41	chr14:78174459-78174509	HRCEpiC	kidney:	n/a
42	chr14:78174459-78174509	A549	lung:	n/a
43	chr14:78174459-78174509	MCF-7	breast:	n/a
44	chr14:78174459-78174509	HEEpiC	esophagus:	n/a
45	chr14:78174459-78174509	GM19239	blood:	n/a
46	chr14:78174459-78174509	AG09309	skin:	n/a
47	chr14:78174459-78174509	GM06990	blood:	n/a
48	chr14:78174459-78174509	HCT-116	colon:	n/a
49	chr14:78174459-78174509	NB4	blood:	n/a
50	chr14:78174459-78174509	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:77841182..77844130-chr14:78173275..78175250,2	MCF-7	breast:
2	chr14:78173677..78176352-chr14:78201271..78203886,2	MCF-7	breast:
3	chr14:78174219..78174861-chr7:44609225..44610061,2	NB4	blood:
4	chr14:77772512..77775137-chr14:78173113..78175507,2	MCF-7	breast:
5	chr14:78173879..78175943-chr14:78227117..78229069,2	K562	blood:
6	chr12:123756182..123757104-chr14:78173946..78174895,2	NB4	blood:
7	chr1:200638783..200639287-chr14:78173955..78174666,2	Hela-S3	cervix:
8	chr14:78173892..78174733-chr9:91925674..91926323,2	HCT-116	colon:
9	chr14:78173055..78176036-chr8:144819518..144822439,2	MCF-7	breast:
10	chr14:78169975..78173523-chr14:78173651..78176580,3	MCF-7	breast:
11	chr14:78174315..78175164-chr15:102264469..102264985,2	Hela-S3	cervix:
12	chr1:180123601..180124224-chr14:78174006..78174785,2	NB4	blood:
13	chr14:78116603..78122891-chr14:78172785..78176058,7	MCF-7	breast:
14	chr14:78174045..78174894-chr3:122102360..122103103,2	NB4	blood:
15	chr11:62572211..62572945-chr14:78173899..78174621,2	Hela-S3	cervix:
16	chr11:62608653..62609638-chr14:78174291..78174792,2	NB4	blood:
17	chr14:78173969..78175847-chr14:78226797..78229509,2	MCF-7	breast:
18	chr14:78013590..78016333-chr14:78173040..78175809,2	MCF-7	breast:
19	chr14:78166641..78172350-chr14:78172652..78176323,11	MCF-7	breast:

No data

Variant related genes	Relation type
ALKBH1	TF binding region
SLIRP	TF binding region
ALKBH1	CpG island
SLIRP	CpG island
ENSG00000268208	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000240233	Chromatin interaction
ENSG00000258668	Chromatin interaction
ENSG00000185418	Chromatin interaction
ENSG00000114023	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000123975	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000116260	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000100603	Chromatin interaction
ENSG00000136271	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000118197	Chromatin interaction
ENSG00000197734	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10133987	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10134175	0.83[AMR][1000 genomes]
rs10483887	1.00[CEU][hapmap]
rs12882571	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17106419	1.00[CEU][hapmap];0.93[GIH][hapmap]
rs17106425	1.00[CEU][hapmap]
rs17106489	1.00[CEU][hapmap]
rs17106503	1.00[CEU][hapmap]
rs17106524	0.82[GIH][hapmap]
rs17106537	0.82[GIH][hapmap]
rs176942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs176945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs176949	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs176967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2287647	1.00[CEU][hapmap];0.93[GIH][hapmap]
rs28481884	0.83[AMR][1000 genomes]
rs28640141	0.83[AMR][1000 genomes]
rs28648386	0.83[AMR][1000 genomes]
rs4622441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4903625	0.87[ASN][1000 genomes]
rs6574389	0.90[ASN][1000 genomes]
rs7144053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7145859	0.83[AMR][1000 genomes]
rs7148286	0.91[AMR][1000 genomes]
rs7150435	0.82[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs7151514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8021036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs874434	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11159286	ENSG00000119705	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78172600-78175800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:78172600-78176000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr14:78172800-78175800	Active TSS	A549	lung
4	chr14:78172800-78176400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:78172800-78176400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:78172800-78176600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr14:78173000-78174800	Active TSS	Brain Anterior Caudate	brain
8	chr14:78173000-78175000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:78173000-78175600	Active TSS	Psoas Muscle	Psoas
10	chr14:78173000-78175800	Active TSS	Right Atrium	heart
11	chr14:78173000-78176200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:78173200-78175400	Active TSS	Fetal Muscle Trunk	muscle
13	chr14:78173200-78175600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:78173200-78175600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:78173200-78175600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr14:78173200-78175600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr14:78173200-78176000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr14:78173200-78176000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:78173200-78176200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:78173200-78176200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr14:78173400-78174800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr14:78173400-78175000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:78173400-78175000	Active TSS	Fetal Brain Female	brain
24	chr14:78173400-78175400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:78173400-78175400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:78173400-78175400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:78173400-78175400	Active TSS	Fetal Kidney	kidney
28	chr14:78173400-78175400	Active TSS	Gastric	stomach
29	chr14:78173400-78175400	Active TSS	Small Intestine	intestine
30	chr14:78173400-78175400	Active TSS	Hela-S3	cervix
31	chr14:78173400-78175400	Active TSS	HSMM	muscle
32	chr14:78173400-78175600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:78173400-78175600	Active TSS	Aorta	Aorta
34	chr14:78173400-78175600	Active TSS	HSMMtube	muscle
35	chr14:78173400-78175600	Active TSS	K562	blood
36	chr14:78173400-78175600	Active TSS	NHDF-Ad	bronchial
37	chr14:78173400-78175800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:78173400-78175800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr14:78173400-78175800	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr14:78173400-78175800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:78173400-78175800	Active TSS	Right Ventricle	heart
42	chr14:78173400-78175800	Active TSS	GM12878-XiMat	blood
43	chr14:78173400-78175800	Bivalent/Poised TSS	HepG2	liver
44	chr14:78173400-78175800	Active TSS	NHLF	lung
45	chr14:78173400-78176400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr14:78173400-78176800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:78173600-78174800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:78173600-78174800	Active TSS	Brain Angular Gyrus	brain
49	chr14:78173600-78174800	Active TSS	Fetal Lung	lung
50	chr14:78173600-78174800	Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links