Variant report

Variant	rs16917233
Chromosome Location	chr8:96044967-96044968
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96042773..96045129-chr8:96053091..96055278,3	K562	blood:
2	chr8:96041290..96045030-chr8:96046427..96048931,4	MCF-7	breast:
3	chr8:96044471..96047276-chr8:96280162..96282608,2	MCF-7	breast:
4	chr8:96044407..96045968-chr8:96052292..96053979,2	MCF-7	breast:
5	chr8:96041538..96045239-chr8:96047596..96052623,5	K562	blood:
6	chr8:96035744..96039512-chr8:96039788..96046844,8	K562	blood:

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000156172	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10086541	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087402	0.87[GIH][hapmap]
rs10089123	0.87[GIH][hapmap]
rs10092003	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093594	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096455	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097930	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098197	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098453	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10100089	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103841	0.86[EUR][1000 genomes]
rs10105437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106491	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110635	0.97[EUR][1000 genomes]
rs10111154	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111300	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10112230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113545	0.90[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1031388	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10504939	0.81[CEU][hapmap]
rs11774085	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776189	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778553	0.81[CEU][hapmap];0.89[CHD][hapmap];0.82[TSI][hapmap]
rs11779506	0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11779698	0.81[CEU][hapmap]
rs11780931	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781001	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781040	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781619	0.87[EUR][1000 genomes]
rs11781757	0.81[CEU][hapmap]
rs11782818	0.81[CEU][hapmap];0.89[CHD][hapmap];0.85[TSI][hapmap]
rs11783878	0.81[CEU][hapmap];0.89[CHD][hapmap];0.85[TSI][hapmap]
rs11784178	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786380	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786878	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279040	0.82[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs1545480	1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16917117	0.87[CEU][hapmap]
rs16917224	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17665737	0.86[CEU][hapmap]
rs2340536	0.87[EUR][1000 genomes]
rs2599711	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2599713	1.00[ASN][1000 genomes]
rs2599714	1.00[ASN][1000 genomes]
rs2599715	1.00[ASN][1000 genomes]
rs2678823	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2678829	0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28363725	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28378156	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28399553	0.81[CEU][hapmap]
rs28406132	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28419772	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28440026	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28477467	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496357	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28616734	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28651964	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28712702	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34700722	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35518242	0.87[ASN][1000 genomes]
rs3802191	0.81[CEU][hapmap];0.89[CHD][hapmap];0.85[TSI][hapmap]
rs4323442	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56901035	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57925408	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61596977	0.86[EUR][1000 genomes]
rs6471505	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471506	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651271	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651272	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985880	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6989862	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002940	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7008542	1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71532343	0.87[ASN][1000 genomes]
rs73276406	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276417	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276437	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276439	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276444	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812312	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7818688	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826046	0.83[ASN][1000 genomes]
rs7826196	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7832570	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842703	0.83[ASN][1000 genomes]
rs7842715	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297950	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297951	0.93[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs16917233	C8orf38	cis	multi-tissue	Pritchard
rs16917233	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs16917233	C8orf38	cis	Liver	GTEx
rs16917233	C8orf38	cis	cerebellum	SCAN
rs16917233	C8orf38	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96037800-96070200	Weak transcription	Aorta	Aorta
2	chr8:96038000-96063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:96038200-96045000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:96038200-96045400	Weak transcription	Ovary	ovary
5	chr8:96038200-96046000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:96038200-96050200	Weak transcription	Spleen	Spleen
7	chr8:96038200-96054400	Weak transcription	Fetal Kidney	kidney
8	chr8:96038200-96058800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:96038200-96059200	Weak transcription	Right Ventricle	heart
10	chr8:96038200-96061000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:96038200-96061200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:96038200-96061200	Weak transcription	Psoas Muscle	Psoas
13	chr8:96038200-96072400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
15	chr8:96038400-96045400	Weak transcription	Brain Germinal Matrix	brain
16	chr8:96038400-96045600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:96038400-96045600	Weak transcription	NHEK	skin
18	chr8:96038400-96045800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:96038400-96046000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:96038400-96048600	Weak transcription	Osteobl	bone
21	chr8:96038400-96054000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:96038400-96054000	Weak transcription	HUVEC	blood vessel
23	chr8:96038400-96054200	Weak transcription	Fetal Heart	heart
24	chr8:96038400-96054200	Weak transcription	NH-A	brain
25	chr8:96038400-96054200	Weak transcription	NHDF-Ad	bronchial
26	chr8:96038400-96054400	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:96038400-96055000	Weak transcription	HSMMtube	muscle
28	chr8:96038400-96060600	Weak transcription	NHLF	lung
29	chr8:96038400-96061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:96038400-96063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:96038400-96066800	Weak transcription	Stomach Mucosa	stomach
32	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:96038600-96045000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:96038600-96045000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:96038600-96045000	Weak transcription	Fetal Brain Female	brain
36	chr8:96038600-96045000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:96038600-96045000	Weak transcription	HepG2	liver
38	chr8:96038600-96045200	Weak transcription	Lung	lung
39	chr8:96038600-96045400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:96038600-96045600	Weak transcription	Thymus	Thymus
41	chr8:96038600-96045800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:96038600-96045800	Weak transcription	Gastric	stomach
43	chr8:96038600-96045800	Weak transcription	A549	lung
44	chr8:96038600-96046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:96038600-96048200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:96038600-96048200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:96038600-96048400	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:96038600-96054400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:96038600-96054400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:96038600-96059200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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