Variant report

Variant	rs51331
Chromosome Location	chr8:90814128-90814129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90811959..90814919-chr8:90863666..90865460,3	MCF-7	breast:
2	chr8:90810688..90812516-chr8:90813829..90816588,2	MCF-7	breast:
3	chr8:90788397..90791255-chr8:90811983..90814369,2	MCF-7	breast:
4	chr8:90808879..90811361-chr8:90813296..90815805,3	K562	blood:
5	chr8:90812521..90814949-chr8:90913581..90915961,2	MCF-7	breast:
6	chr8:90812604..90815452-chr8:90823390..90825028,2	MCF-7	breast:
7	chr8:90801295..90805562-chr8:90810503..90814895,4	MCF-7	breast:
8	chr8:90768512..90770810-chr8:90812946..90815331,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1003843	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10095743	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10112852	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13252013	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13252917	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13259882	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13274635	0.89[CEU][hapmap]
rs13279023	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218905	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs218907	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218908	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218909	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs218910	0.84[AMR][1000 genomes]
rs218913	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218914	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218925	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218929	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218932	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218934	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218936	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218938	0.92[CEU][hapmap]
rs2644021	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2644033	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735870	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735871	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735873	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735878	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735882	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs369771	0.86[CEU][hapmap]
rs370282	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs383592	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs385524	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs394108	0.86[CEU][hapmap]
rs39499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39500	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39501	0.80[CEU][hapmap]
rs39502	0.82[CEU][hapmap]
rs39503	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39504	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39505	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39506	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39508	0.83[CEU][hapmap]
rs39509	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39515	0.86[CEU][hapmap]
rs397540	0.90[CEU][hapmap]
rs39761	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39763	0.90[CEU][hapmap]
rs39766	0.92[CEU][hapmap]
rs39767	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs400411	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs40246	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs40247	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs402886	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40379	0.90[CEU][hapmap]
rs40380	0.89[CEU][hapmap]
rs40381	0.82[EUR][1000 genomes]
rs40382	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs40452	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40453	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs40454	0.89[CEU][hapmap]
rs40544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40545	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40546	0.92[ASN][1000 genomes]
rs40547	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs405734	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40635	0.90[CEU][hapmap]
rs40636	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40638	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs411279	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs411310	0.90[CEU][hapmap]
rs416324	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs419754	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs42343	0.90[CEU][hapmap]
rs42346	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs42480	0.92[CEU][hapmap]
rs42490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs428484	0.92[CEU][hapmap]
rs431264	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs43133	0.80[CEU][hapmap]
rs43134	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs43135	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs43225	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs434264	0.90[CEU][hapmap]
rs435600	0.83[AMR][1000 genomes]
rs447618	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs450332	0.89[CEU][hapmap]
rs454441	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs465	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6470366	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6992985	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6993133	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs51331	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90802600-90814200	Weak transcription	K562	blood
3	chr8:90805400-90817000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:90810200-90814400	Enhancers	Fetal Intestine Large	intestine
5	chr8:90810400-90817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:90813000-90814200	Enhancers	Fetal Intestine Small	intestine
7	chr8:90813000-90814200	Flanking Active TSS	A549	lung
8	chr8:90813000-90814200	Enhancers	NHLF	lung
9	chr8:90813000-90814400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:90813000-90814400	Enhancers	Liver	Liver
11	chr8:90813000-90814800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:90813200-90814400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:90813200-90814400	Enhancers	Osteobl	bone
14	chr8:90813200-90814600	Flanking Active TSS	HepG2	liver
15	chr8:90813200-90814600	Enhancers	HMEC	breast
16	chr8:90813400-90814200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:90813400-90814200	Enhancers	Hela-S3	cervix
18	chr8:90813400-90814200	Enhancers	NH-A	brain
19	chr8:90813400-90814400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:90813600-90814600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:90813800-90814200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:90813800-90814200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:90813800-90814200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:90813800-90814200	Flanking Active TSS	NHEK	skin
25	chr8:90813800-90814600	ZNF genes & repeats	NHDF-Ad	bronchial
26	chr8:90813800-90815800	Weak transcription	Placenta	Placenta
27	chr8:90814000-90814200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:90814000-90814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:90814000-90814200	Enhancers	Gastric	stomach
30	chr8:90814000-90814400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:90814000-90814400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:90814000-90817000	Weak transcription	Stomach Mucosa	stomach
33	chr8:90814000-90817800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:90814000-90824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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