Variant report

Variant	rs7017595
Chromosome Location	chr8:27347623-27347624
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	STAT3	chr8:27347619-27347656	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:27347566-27349302	HepG2	liver:	n/a	n/a
3	FOXA1	chr8:27347366-27347718	T-47D	breast:	n/a	n/a
4	HEY1	chr8:27347525-27347758	HepG2	liver:	n/a	n/a
5	FOXA1	chr8:27347383-27347715	T-47D	breast:	n/a	n/a
6	UBTF	chr8:27347588-27347700	K562	blood:	n/a	n/a
7	GATA3	chr8:27347359-27347697	T-47D	breast:	n/a	n/a
8	ZMIZ1	chr8:27347354-27347697	K562	blood:	n/a	n/a
9	EP300	chr8:27347328-27347687	T-47D	breast:	n/a	chr8:27347407-27347421

No.	Distal block	Cell Line	Cell type
1	chr8:27324392..27326090-chr8:27347456..27349111,2	MCF-7	breast:
2	chr8:27326424..27328675-chr8:27347033..27349704,3	K562	blood:
3	chr8:27335619..27337623-chr8:27345882..27347936,2	K562	blood:

Variant related genes	Relation type
EPHX2	TF binding region
ENSG00000120903	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs56187906	0.87[AFR][1000 genomes]
rs57442348	0.90[AFR][1000 genomes]
rs59338093	0.93[AFR][1000 genomes]
rs59365325	0.90[AFR][1000 genomes]
rs59683646	0.93[AFR][1000 genomes]
rs60257378	0.93[AFR][1000 genomes]
rs60319016	0.87[AFR][1000 genomes]
rs60709011	0.93[AFR][1000 genomes]
rs61586133	0.90[AFR][1000 genomes]
rs6558001	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs6995058	0.93[AFR][1000 genomes]
rs7006736	0.90[AFR][1000 genomes]
rs72475804	0.93[AFR][1000 genomes]
rs72475805	0.87[AFR][1000 genomes]
rs72475823	0.90[AFR][1000 genomes]
rs72475825	0.90[AFR][1000 genomes]
rs72475857	0.93[AFR][1000 genomes]
rs72475878	0.93[AFR][1000 genomes]
rs72475879	0.93[AFR][1000 genomes]
rs72475898	0.93[AFR][1000 genomes]
rs72477587	0.87[AFR][1000 genomes]
rs72477588	0.87[AFR][1000 genomes]
rs72478904	0.87[AFR][1000 genomes]
rs73679204	0.90[AFR][1000 genomes]
rs73679208	0.90[AFR][1000 genomes]
rs7819348	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7838218	1.00[ASW][hapmap];0.92[LWK][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes]

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	nsv1020582	chr8:27309768-27406844	Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1019182	chr8:27314836-27398162	Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv831275	chr8:27328290-27481605	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:27322800-27348200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:27342000-27348600	Weak transcription	Spleen	Spleen
3	chr8:27343600-27348000	Enhancers	Thymus	Thymus
4	chr8:27343600-27348200	Enhancers	Fetal Intestine Large	intestine
5	chr8:27343600-27348200	Enhancers	Fetal Thymus	thymus
6	chr8:27343800-27348000	Enhancers	Fetal Intestine Small	intestine
7	chr8:27344400-27348200	Weak transcription	Lung	lung
8	chr8:27344600-27348000	Weak transcription	Fetal Brain Female	brain
9	chr8:27345400-27348400	Enhancers	Primary T cells from cord blood	blood
10	chr8:27345600-27348400	Enhancers	Stomach Mucosa	stomach
11	chr8:27345800-27348200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:27346400-27347800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:27346400-27347800	Enhancers	Adipose Nuclei	Adipose
14	chr8:27346400-27348000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:27346400-27348000	Enhancers	HepG2	liver
16	chr8:27346400-27348200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:27346400-27348200	Enhancers	Colonic Mucosa	Colon
18	chr8:27346400-27348200	Enhancers	Pancreas	Pancrea
19	chr8:27346400-27348200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr8:27346400-27348200	Enhancers	Small Intestine	intestine
21	chr8:27346400-27348200	Enhancers	NHEK	skin
22	chr8:27346600-27348200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:27346800-27347800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr8:27346800-27348000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:27346800-27348000	Weak transcription	Gastric	stomach
26	chr8:27346800-27348200	Enhancers	Fetal Stomach	stomach
27	chr8:27347000-27347800	Weak transcription	Right Atrium	heart
28	chr8:27347000-27348000	Enhancers	Fetal Muscle Leg	muscle
29	chr8:27347000-27348200	Enhancers	Psoas Muscle	Psoas
30	chr8:27347200-27348000	Enhancers	Brain Angular Gyrus	brain
31	chr8:27347200-27348200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:27347200-27348200	Flanking Active TSS	Liver	Liver
33	chr8:27347200-27348200	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr8:27347400-27347800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:27347400-27347800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:27347400-27347800	Enhancers	Fetal Kidney	kidney
37	chr8:27347400-27348000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:27347400-27348000	Enhancers	Brain Hippocampus Middle	brain
39	chr8:27347400-27348000	Enhancers	Left Ventricle	heart
40	chr8:27347400-27348000	Enhancers	Right Ventricle	heart
41	chr8:27347400-27348000	Enhancers	A549	lung
42	chr8:27347400-27348200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr8:27347400-27348200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:27347400-27348200	Enhancers	Brain Substantia Nigra	brain
45	chr8:27347400-27348200	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr8:27347400-27348200	Flanking Active TSS	Fetal Lung	lung
47	chr8:27347400-27348200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr8:27347400-27348400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr8:27347400-27348400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr8:27347600-27347800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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