Variant report

Variant	rs10094579
Chromosome Location	chr8:90849305-90849306
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90848881..90850770-chr8:90855549..90858442,2	MCF-7	breast:
2	chr8:90844734..90847246-chr8:90847760..90849982,2	MCF-7	breast:
3	chr8:90768306..90772219-chr8:90848541..90851274,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10096271	0.93[ASN][1000 genomes]
rs11785163	0.89[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.88[MKK][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11989430	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12155807	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13260987	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13278954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280951	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16900888	1.00[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16901016	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189025	0.90[EUR][1000 genomes]
rs2338882	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2338883	0.94[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs28405481	0.96[EUR][1000 genomes]
rs28461337	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28528187	0.85[EUR][1000 genomes]
rs28766093	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2879287	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs34525502	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34642426	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34699769	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34970073	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35183880	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39771	0.81[ASN][1000 genomes]
rs426240	0.81[ASN][1000 genomes]
rs62530862	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62530908	0.99[EUR][1000 genomes]
rs6984540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013987	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs7015630	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv520356	chr8:90823687-90857989	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2761448	chr8:90837630-90853986	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10094579	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90845800-90850200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:90846000-90850400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:90846000-90850600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr8:90846600-90850000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:90847200-90849800	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:90847200-90850200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:90847600-90850000	Enhancers	Stomach Mucosa	stomach
8	chr8:90847600-90860600	Weak transcription	Aorta	Aorta
9	chr8:90848000-90850200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:90848200-90850200	Enhancers	NHLF	lung
11	chr8:90848400-90850200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:90848400-90850200	Enhancers	Osteobl	bone
13	chr8:90848400-90850400	Enhancers	Primary T cells from cord blood	blood
14	chr8:90848600-90849800	Enhancers	Primary B cells from cord blood	blood
15	chr8:90848600-90850000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:90848600-90850000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:90848600-90850000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr8:90848600-90850400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:90848600-90851600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:90848800-90849400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:90848800-90849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:90848800-90849800	Weak transcription	Pancreas	Pancrea
23	chr8:90849000-90849400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:90849000-90849400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:90849000-90849400	Flanking Active TSS	HUVEC	blood vessel
26	chr8:90849000-90849400	Flanking Active TSS	NHDF-Ad	bronchial
27	chr8:90849000-90849600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:90849000-90849800	Enhancers	NHEK	skin
29	chr8:90849000-90850000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:90849000-90850000	Flanking Active TSS	NH-A	brain
31	chr8:90849000-90850200	Enhancers	Primary hematopoietic stem cells	blood
32	chr8:90849000-90850400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr8:90849000-90851800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:90849200-90849400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:90849200-90849400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:90849200-90849400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:90849200-90849400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:90849200-90849600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:90849200-90849800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:90849200-90849800	Flanking Active TSS	GM12878-XiMat	blood
41	chr8:90849200-90850000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:90849200-90850200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:90849200-90850200	Flanking Active TSS	A549	lung
44	chr8:90849200-90850200	Enhancers	HSMM	muscle
45	chr8:90849200-90850200	Enhancers	HSMMtube	muscle

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