Variant report

Variant	rs2293890
Chromosome Location	chr8:126369898-126369899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126367782..126370387-chr8:126440468..126442210,2	K562	blood:
2	chr8:126362447..126364005-chr8:126367534..126370011,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254431	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10094181	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100121	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100566	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10104659	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10105854	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10106359	0.84[CHB][hapmap];0.82[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10216374	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10216768	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505453	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956239	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956240	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956241	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956242	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11774053	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11775165	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776254	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777625	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778683	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11778726	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782629	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11997581	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12549738	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12680560	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13254815	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13255114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13259646	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13261579	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13261587	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13274361	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385092	0.83[JPT][hapmap]
rs2385100	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2891677	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2891678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4466418	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870936	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870937	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871582	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871590	0.84[EUR][1000 genomes]
rs6470350	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6986059	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986712	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989275	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989383	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6990622	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004739	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7004753	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7010240	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7010394	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7015753	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7815471	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7822592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297716	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2761467	chr8:126368375-126385095	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:126354800-126371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
5	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
7	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
8	chr8:126355000-126374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:126355200-126373000	Weak transcription	NH-A	brain
10	chr8:126355200-126374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:126355200-126374800	Weak transcription	HMEC	breast
12	chr8:126355200-126378800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:126355600-126374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:126355600-126374400	Weak transcription	NHLF	lung
15	chr8:126355600-126374600	Weak transcription	NHDF-Ad	bronchial
16	chr8:126355600-126375200	Weak transcription	Small Intestine	intestine
17	chr8:126356000-126370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:126356800-126372000	Weak transcription	Liver	Liver
19	chr8:126358800-126376800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:126359400-126372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:126359600-126371800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:126360400-126370200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:126361400-126372000	Weak transcription	Fetal Kidney	kidney
24	chr8:126361800-126371600	Weak transcription	Fetal Intestine Small	intestine
25	chr8:126361800-126372000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:126361800-126383200	Weak transcription	Psoas Muscle	Psoas
27	chr8:126362200-126370000	Weak transcription	Hela-S3	cervix
28	chr8:126362400-126371800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:126362600-126372800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:126362600-126373200	Weak transcription	Osteobl	bone
31	chr8:126362600-126373600	Weak transcription	HSMM	muscle
32	chr8:126362800-126372400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:126363400-126374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:126365000-126379000	Weak transcription	Fetal Brain Male	brain
35	chr8:126365400-126372000	Weak transcription	HSMMtube	muscle
36	chr8:126365400-126374200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:126365600-126372800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:126365600-126380000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:126365600-126381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:126365800-126372000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:126365800-126372000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:126365800-126380000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:126366000-126370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:126366000-126370600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:126366200-126370000	Weak transcription	Brain Substantia Nigra	brain
46	chr8:126367000-126381200	Weak transcription	Fetal Brain Female	brain
47	chr8:126367200-126372000	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:126367200-126374400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:126367400-126373800	Weak transcription	A549	lung
50	chr8:126367600-126374800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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