Variant report

Variant	rs4368076
Chromosome Location	chr14:35009633-35009634
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	HEY1	chr14:35009181-35010349	HepG2	liver:	n/a	n/a
2	RCOR1	chr14:35009547-35009828	K562	blood:	n/a	n/a
3	MAX	chr14:35009405-35009859	K562	blood:	n/a	n/a
4	HEY1	chr14:35009463-35009869	K562	blood:	n/a	n/a
5	MBD4	chr14:35009283-35009958	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:35009457-35009868	K562	blood:	n/a	n/a
7	TEAD4	chr14:35009204-35011384	HepG2	liver:	n/a	n/a
8	E2F6	chr14:35009481-35009671	K562	blood:	n/a	n/a
9	POLR2A	chr14:35008352-35010040	HepG2	liver:	n/a	n/a
10	TBP	chr14:35009404-35009997	HepG2	liver:	n/a	n/a
11	SIN3AK20	chr14:35009386-35010287	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:35007986-35009835	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr14:35009297-35010323	HepG2	liver:	n/a	n/a
14	HEY1	chr14:35008313-35011449	HepG2	liver:	n/a	chr14:35008911-35008926
15	NFIC	chr14:35009312-35009920	HepG2	liver:	n/a	n/a
16	RCOR1	chr14:35009411-35009840	HepG2	liver:	n/a	n/a
17	YY1	chr14:35008359-35009887	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:35009416-35009732	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr14:35009617-35010861	HepG2	liver:	n/a	n/a
20	RFX5	chr14:35009489-35009816	HepG2	liver:	n/a	n/a
21	JUND	chr14:35009370-35011480	HepG2	liver:	n/a	n/a
22	EP300	chr14:35009473-35009916	HepG2	liver:	n/a	n/a
23	REST	chr14:35009436-35010308	HepG2	liver:	n/a	chr14:35009819-35009837
24	SP1	chr14:35008358-35011497	HepG2	liver:	n/a	chr14:35009024-35009031 chr14:35009025-35009037 chr14:35009044-35009053 chr14:35009026-35009035 chr14:35009004-35009016 chr14:35009027-35009036 chr14:35009043-35009053 chr14:35008990-35009004 chr14:35009027-35009036 chr14:35009006-35009015 chr14:35009838-35009852 chr14:35009042-35009054 chr14:35008576-35008590 chr14:35009001-35009015 chr14:35009042-35009054
25	MBD4	chr14:35009204-35010029	HepG2	liver:	n/a	n/a
26	NFIC	chr14:35009215-35009968	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:35009394-35010319	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:35009472-35009783	K562	blood:	n/a	n/a
29	SMC3	chr14:35009446-35009887	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:35008406-35010121	K562	blood:	n/a	n/a
31	POLR2A	chr14:35007694-35009897	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr14:35008352-35010918	HepG2	liver:	n/a	n/a
33	MYBL2	chr14:35007950-35011284	HepG2	liver:	n/a	n/a
34	FOSL2	chr14:35009353-35011648	HepG2	liver:	n/a	n/a
35	MYBL2	chr14:35008048-35011030	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
2	chr14:35005506..35011243-chr14:35020994..35025666,12	MCF-7	breast:
3	chr14:35005284..35011388-chr14:35017198..35025900,23	MCF-7	breast:
4	chr14:35009521..35011161-chr14:35031484..35032992,3	MCF-7	breast:
5	chr14:35009037..35010904-chr14:35021766..35024411,2	K562	blood:
6	chr14:35007550..35010317-chr14:35342022..35344512,2	K562	blood:
7	chr14:35007550..35010391-chr14:35343012..35345148,2	K562	blood:
8	chr14:34929666..34933656-chr14:35005721..35010391,9	K562	blood:
9	chr14:34929915..34933661-chr14:35006959..35010400,6	MCF-7	breast:
10	chr14:35005104..35007114-chr14:35007414..35009874,3	K562	blood:
11	chr14:34930470..34932730-chr14:35007965..35010227,2	K562	blood:

Variant related genes	Relation type
EAPP	TF binding region
ENSG00000129521	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000206596	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000206588	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11156849	0.81[EUR][1000 genomes]
rs12050290	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434523	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12435717	0.91[ASW][hapmap];0.95[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap]
rs12588228	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12588878	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12589576	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12590540	0.82[EUR][1000 genomes]
rs12878227	0.84[EUR][1000 genomes]
rs12878854	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12882703	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12884997	0.83[EUR][1000 genomes]
rs12885352	0.83[EUR][1000 genomes]
rs12894795	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12895640	0.95[CEU][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap]
rs13826	0.91[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes]
rs17524152	0.91[ASW][hapmap];0.95[CEU][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs28515732	0.84[EUR][1000 genomes]
rs34068551	0.83[EUR][1000 genomes]
rs34356189	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34437689	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34479175	0.83[EUR][1000 genomes]
rs35091031	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35194168	0.84[EUR][1000 genomes]
rs35257621	0.82[EUR][1000 genomes]
rs35415402	0.82[EUR][1000 genomes]
rs4592561	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4628872	0.83[EUR][1000 genomes]
rs55858014	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56801633	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61316540	0.83[EUR][1000 genomes]
rs61979674	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61979715	0.83[EUR][1000 genomes]
rs61981527	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61981529	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6650487	0.95[CEU][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs7146042	0.95[CEU][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs7158829	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
9	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	esv2761826	chr14:35009633-35027508	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35007000-35009800	Active TSS	Colonic Mucosa	Colon
2	chr14:35007200-35009800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:35007400-35009800	Active TSS	Hela-S3	cervix
4	chr14:35007600-35009800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:35007800-35009800	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr14:35008000-35009800	Active TSS	Brain Germinal Matrix	brain
7	chr14:35008000-35009800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr14:35008000-35009800	Active TSS	Stomach Smooth Muscle	stomach
9	chr14:35008000-35009800	Active TSS	HSMM	muscle
10	chr14:35008200-35009800	Active TSS	Fetal Lung	lung
11	chr14:35008200-35009800	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr14:35008400-35009800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:35008400-35009800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:35008400-35009800	Active TSS	Osteobl	bone
15	chr14:35008800-35009800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr14:35008800-35009800	Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr14:35009000-35009800	Active TSS	Primary B cells from cord blood	blood
18	chr14:35009000-35033000	Weak transcription	Gastric	stomach
19	chr14:35009200-35009800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:35009200-35009800	Flanking Active TSS	Dnd41	blood
21	chr14:35009400-35009800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:35009400-35009800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:35009400-35009800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr14:35009400-35009800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:35009400-35009800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:35009400-35009800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:35009400-35009800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:35009400-35009800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr14:35009400-35009800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:35009400-35009800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:35009400-35009800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr14:35009400-35009800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr14:35009400-35009800	Flanking Active TSS	Fetal Brain Male	brain
34	chr14:35009400-35009800	Flanking Active TSS	Fetal Brain Female	brain
35	chr14:35009400-35009800	Enhancers	Placenta	Placenta
36	chr14:35009400-35009800	Enhancers	Pancreas	Pancrea
37	chr14:35009400-35009800	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr14:35009400-35009800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr14:35009400-35009800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr14:35009400-35009800	Flanking Active TSS	Spleen	Spleen
41	chr14:35009400-35009800	Flanking Active TSS	A549	lung
42	chr14:35009400-35009800	Flanking Bivalent TSS/Enh	HepG2	liver
43	chr14:35009400-35009800	Flanking Active TSS	K562	blood
44	chr14:35009400-35009800	Flanking Active TSS	NHDF-Ad	bronchial
45	chr14:35009400-35010000	Enhancers	Fetal Heart	heart
46	chr14:35009600-35009800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr14:35009600-35009800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr14:35009600-35009800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:35009600-35009800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:35009600-35009800	Enhancers	Primary B cells from peripheral blood	blood

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