Variant report

Variant	rs6995058
Chromosome Location	chr8:27350256-27350257
allele	A/G
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	chr8:27349768-27350462	HepG2	liver:	n/a	n/a
2	MAFK	chr8:27350136-27350454	HepG2	liver:	n/a	chr8:27350274-27350289
3	MAX	chr8:27350242-27350546	K562	blood:	n/a	n/a
4	CBX3	chr8:27349716-27350884	K562	blood:	n/a	n/a
5	CBX3	chr8:27350192-27350577	K562	blood:	n/a	n/a
6	MAFK	chr8:27350111-27350463	HepG2	liver:	n/a	chr8:27350274-27350289
7	TRIM28	chr8:27350223-27350670	K562	blood:	n/a	n/a
8	KAP1	chr8:27349574-27350934	K562	blood:	n/a	n/a
9	MAFF	chr8:27350147-27350468	HepG2	liver:	n/a	chr8:27350272-27350290
10	MAFK	chr8:27350199-27350430	IMR90	lung:	n/a	chr8:27350274-27350289

Variant related genes	Relation type
EPHX2	TF binding region

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

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

rs_ID	r²[population]
rs56187906	0.86[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	0.93[AFR][1000 genomes]
rs60709011	0.93[AFR][1000 genomes]
rs61586133	0.90[AFR][1000 genomes]
rs6558001	0.96[AFR][1000 genomes]
rs7006736	0.89[AFR][1000 genomes]
rs7017595	0.93[AFR][1000 genomes]
rs72475804	1.00[AFR][1000 genomes]
rs72475805	0.93[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	0.86[AFR][1000 genomes]
rs72477588	0.86[AFR][1000 genomes]
rs72478904	0.86[AFR][1000 genomes]
rs73679204	0.96[AFR][1000 genomes]
rs73679208	0.90[AFR][1000 genomes]
rs7819348	0.93[AFR][1000 genomes]
rs7838218	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:27349000-27351400	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr8:27349200-27350400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr8:27349200-27350400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr8:27349200-27350400	Enhancers	Small Intestine	intestine
5	chr8:27349200-27359600	Weak transcription	Ovary	ovary
6	chr8:27349200-27360200	Weak transcription	Aorta	Aorta
7	chr8:27349200-27361200	Weak transcription	Placenta	Placenta
8	chr8:27349200-27361800	Weak transcription	Right Ventricle	heart
9	chr8:27349200-27364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:27349200-27372000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:27349200-27372200	Weak transcription	Right Atrium	heart
12	chr8:27349400-27351200	Enhancers	Stomach Mucosa	stomach
13	chr8:27349400-27351400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr8:27349400-27351600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:27349400-27351800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr8:27349400-27358400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:27349400-27358400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:27349400-27359000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:27349400-27359400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:27349400-27359400	Weak transcription	Fetal Kidney	kidney
21	chr8:27349400-27359600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:27349400-27360400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:27349400-27360400	Weak transcription	Psoas Muscle	Psoas
24	chr8:27349400-27361200	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:27349400-27361600	Weak transcription	Brain Angular Gyrus	brain
26	chr8:27349400-27362000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:27349600-27350400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:27349600-27350600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:27349600-27350600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
30	chr8:27349600-27351400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:27349600-27359600	Weak transcription	A549	lung
32	chr8:27349800-27350400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr8:27349800-27350600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:27349800-27350600	Enhancers	Esophagus	oesophagus
35	chr8:27349800-27350600	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr8:27349800-27350800	Weak transcription	Fetal Lung	lung
37	chr8:27349800-27351000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:27349800-27351200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:27349800-27351400	Enhancers	HepG2	liver
40	chr8:27349800-27353200	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:27349800-27359600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:27349800-27359600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:27349800-27359800	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:27349800-27360400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:27349800-27361600	Weak transcription	Gastric	stomach
46	chr8:27350000-27350400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:27350000-27350400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:27350000-27350400	Active TSS	Liver	Liver
49	chr8:27350000-27350800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr8:27350000-27351600	ZNF genes & repeats	Fetal Thymus	thymus

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