Variant report

Variant	rs218913
Chromosome Location	chr8:90744434-90744435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90742547..90745404-chr8:90995245..90998010,2	MCF-7	breast:
2	chr8:90740620..90742197-chr8:90743722..90745998,2	K562	blood:
3	chr8:90744391..90748036-chr8:90768454..90770594,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1003843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095743	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13252013	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13252917	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13259882	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13279023	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1397308	0.81[CEU][hapmap]
rs16900429	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs184302	0.84[EUR][1000 genomes]
rs218895	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs218899	0.90[ASW][hapmap];0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs218900	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218901	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218902	0.90[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218903	0.96[CEU][hapmap];0.87[GIH][hapmap]
rs218905	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218910	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218925	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218929	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218932	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218934	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218936	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218944	0.85[EUR][1000 genomes]
rs218946	0.86[EUR][1000 genomes]
rs218947	0.86[EUR][1000 genomes]
rs218948	0.84[EUR][1000 genomes]
rs2644021	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2644033	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735870	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735871	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735873	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735878	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735882	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs369771	0.81[CHB][hapmap]
rs370282	0.84[AMR][1000 genomes]
rs383592	0.86[GIH][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs385524	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs394108	0.81[CHB][hapmap]
rs39499	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39500	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39503	0.88[CEU][hapmap];0.98[GIH][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39504	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39505	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39506	1.00[CEU][hapmap];0.98[GIH][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39509	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs39515	0.81[CHB][hapmap]
rs39761	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs400411	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs40246	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs40247	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs402886	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40382	0.83[AMR][1000 genomes]
rs40452	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40453	0.93[GIH][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs40459	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs40544	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40545	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40547	0.81[AMR][1000 genomes]
rs405734	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40636	0.85[AMR][1000 genomes]
rs40638	0.82[GIH][hapmap];0.84[AMR][1000 genomes]
rs410663	0.81[CEU][hapmap]
rs411279	0.93[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs416324	0.93[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs419754	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42346	0.82[GIH][hapmap];0.85[AMR][1000 genomes]
rs42481	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs42490	1.00[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs431264	0.91[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs43134	1.00[CEU][hapmap];0.98[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs43135	0.82[AMR][1000 genomes]
rs43225	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs447618	1.00[CEU][hapmap];0.98[GIH][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs454441	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs454561	0.81[CHB][hapmap]
rs465	0.83[AMR][1000 genomes]
rs51331	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470366	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67143546	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6992985	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993133	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824932	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs218913	RIPK2	cis	cerebellum	SCAN
rs218913	RP11-37B2.1	cis	Nerve Tibial	GTEx
rs218913	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs218913	RP11-37B2.1	cis	Thyroid	GTEx
rs218913	RP11-37B2.1	cis	Artery Tibial	GTEx
rs218913	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
2	chr8:90717800-90747800	Weak transcription	Ovary	ovary
3	chr8:90738600-90749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:90739200-90744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:90739200-90748800	Weak transcription	A549	lung
8	chr8:90739400-90745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:90741000-90745200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:90741400-90751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:90741600-90749000	Weak transcription	Gastric	stomach
12	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:90742000-90747000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:90742600-90746400	Weak transcription	Psoas Muscle	Psoas
15	chr8:90742600-90747600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:90742600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:90742600-90749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:90742600-90767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:90742800-90745200	Weak transcription	Hela-S3	cervix
20	chr8:90742800-90748200	Weak transcription	K562	blood
21	chr8:90742800-90749000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:90742800-90749200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:90742800-90762200	Weak transcription	Aorta	Aorta
24	chr8:90743000-90749400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:90743200-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:90743400-90745800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:90743800-90745200	Weak transcription	Fetal Stomach	stomach

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