Variant report

Variant	rs218947
Chromosome Location	chr8:90717376-90717377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:36869922..36870448-chr8:90717364..90718185,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1003843	0.87[ASW][hapmap];0.96[CEU][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10095743	0.87[EUR][1000 genomes]
rs10102245	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10112852	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs11535368	0.84[ASN][1000 genomes]
rs12545569	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12675281	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13252013	0.87[EUR][1000 genomes]
rs13252917	0.87[EUR][1000 genomes]
rs13259882	0.87[EUR][1000 genomes]
rs13276489	0.84[ASN][1000 genomes]
rs13279023	0.87[EUR][1000 genomes]
rs1397308	0.87[ASW][hapmap];0.84[CEU][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1605996	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1605997	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs184302	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218893	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs218895	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs218899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218900	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs218901	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs218902	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs218903	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.98[TSI][hapmap]
rs218905	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218907	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs218908	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs218909	0.84[EUR][1000 genomes]
rs218913	0.96[CEU][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap];0.86[EUR][1000 genomes]
rs218914	0.87[EUR][1000 genomes]
rs218916	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs218925	0.87[EUR][1000 genomes]
rs218929	0.96[CEU][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap];0.87[EUR][1000 genomes]
rs218932	0.87[EUR][1000 genomes]
rs218934	0.87[EUR][1000 genomes]
rs218936	0.87[EUR][1000 genomes]
rs218944	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218946	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218948	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218953	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2644021	0.87[EUR][1000 genomes]
rs2644033	0.87[EUR][1000 genomes]
rs2735870	0.87[EUR][1000 genomes]
rs2735871	0.87[EUR][1000 genomes]
rs2735873	0.87[EUR][1000 genomes]
rs2735878	0.87[EUR][1000 genomes]
rs2935115	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs383592	0.82[MEX][hapmap]
rs385524	0.81[EUR][1000 genomes]
rs39499	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs39500	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs39503	0.87[ASW][hapmap];0.84[CEU][hapmap];0.91[MEX][hapmap];0.81[EUR][1000 genomes]
rs39504	0.81[EUR][1000 genomes]
rs39505	0.81[EUR][1000 genomes]
rs39506	0.87[ASW][hapmap];0.96[CEU][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.81[EUR][1000 genomes]
rs39761	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs40246	0.86[EUR][1000 genomes]
rs402886	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs40452	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs40453	0.87[ASW][hapmap];0.96[MEX][hapmap]
rs40544	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs40545	0.81[EUR][1000 genomes]
rs405734	0.81[EUR][1000 genomes]
rs40638	0.83[MEX][hapmap]
rs411279	0.87[ASW][hapmap];0.87[MEX][hapmap]
rs416324	0.87[ASW][hapmap];0.87[MEX][hapmap]
rs419754	0.82[EUR][1000 genomes]
rs42346	0.83[MEX][hapmap]
rs42490	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs431264	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs43134	0.87[ASW][hapmap];0.96[CEU][hapmap];0.80[GIH][hapmap];0.91[MEX][hapmap];0.81[EUR][1000 genomes]
rs43225	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs447618	0.87[ASW][hapmap];0.96[CEU][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.81[EUR][1000 genomes]
rs454441	0.86[EUR][1000 genomes]
rs4961154	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4961155	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4961157	0.81[ASN][1000 genomes]
rs4961158	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56291556	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6470337	0.87[ASN][1000 genomes]
rs6470366	0.87[EUR][1000 genomes]
rs6992985	0.87[EUR][1000 genomes]
rs6993133	0.87[EUR][1000 genomes]
rs7004089	0.85[ASN][1000 genomes]
rs7017316	0.86[ASN][1000 genomes]
rs7018416	0.85[CHB][hapmap];0.81[CHD][hapmap];0.86[ASN][1000 genomes]
rs7824932	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv870380	chr8:90546585-90720182	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1017263	chr8:90605445-90722580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv3340425	chr8:90686312-90722629	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	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
11	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs218947	RIPK2	cis	cerebellum	SCAN
rs218947	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs218947	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs218947	RIPK2	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90709000-90720200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:90710000-90730000	Weak transcription	HSMMtube	muscle
3	chr8:90710200-90729600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:90710200-90730400	Weak transcription	A549	lung
5	chr8:90710200-90731200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:90710200-90736200	Weak transcription	Adipose Nuclei	Adipose
7	chr8:90711200-90733800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:90711400-90720200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:90713200-90717600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
11	chr8:90713400-90720400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:90713400-90738000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
14	chr8:90713800-90720400	Weak transcription	Fetal Intestine Small	intestine
15	chr8:90713800-90721000	Weak transcription	Lung	lung
16	chr8:90714000-90719600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:90714200-90717600	Weak transcription	NHLF	lung
18	chr8:90714200-90718600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:90714200-90720400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:90714200-90728000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
22	chr8:90714400-90719000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:90714400-90721800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:90714400-90741000	Weak transcription	Gastric	stomach
25	chr8:90714600-90720000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:90714600-90726600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:90714800-90733000	Weak transcription	Placenta	Placenta
28	chr8:90715000-90720200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:90715200-90720000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:90715400-90717600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:90715400-90720200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:90715600-90717400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:90715600-90717800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:90715600-90717800	Strong transcription	Fetal Stomach	stomach
36	chr8:90715600-90720000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:90715800-90720600	Weak transcription	Fetal Intestine Large	intestine
38	chr8:90716000-90717600	Strong transcription	Aorta	Aorta
39	chr8:90716000-90718000	Enhancers	Hela-S3	cervix
40	chr8:90716000-90720000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:90716000-90720400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:90716200-90718000	Enhancers	HMEC	breast
43	chr8:90716200-90718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:90716400-90717800	Strong transcription	Ovary	ovary
45	chr8:90716400-90718200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:90716600-90717400	Enhancers	Brain Anterior Caudate	brain
47	chr8:90716800-90717800	Enhancers	NHEK	skin
48	chr8:90716800-90738000	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:90717000-90717400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:90717000-90717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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