Variant report

Variant	rs16917102
Chromosome Location	chr8:95879035-95879036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95873342..95877174-chr8:95877936..95881669,4	K562	blood:
2	chr8:95834207..95836973-chr8:95878829..95880737,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10504939	1.00[JPT][hapmap]
rs10956927	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11775899	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776489	0.81[EUR][1000 genomes]
rs11776687	0.81[EUR][1000 genomes]
rs11776830	0.90[EUR][1000 genomes]
rs11777353	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11778250	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11778553	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11779041	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11779698	1.00[JPT][hapmap]
rs11781429	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11781712	0.83[ASN][1000 genomes]
rs11781757	1.00[JPT][hapmap]
rs11782617	0.85[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11782818	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11783522	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11783589	1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11783878	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11783941	0.90[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11784299	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11786021	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11786088	1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs11786389	1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11786451	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11787377	0.80[EUR][1000 genomes]
rs12056517	1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056808	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13250762	1.00[JPT][hapmap]
rs16893774	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16917079	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16917081	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16917082	0.83[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs16917093	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16917106	0.86[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16917117	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17359493	1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17665737	1.00[JPT][hapmap]
rs28399553	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28399563	0.81[ASN][1000 genomes]
rs28399571	0.81[ASN][1000 genomes]
rs3802191	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs4075834	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4345531	1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4355737	0.81[EUR][1000 genomes]
rs57063661	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs58675831	0.80[EUR][1000 genomes]
rs59091366	0.81[EUR][1000 genomes]
rs59265059	0.81[EUR][1000 genomes]
rs59521030	0.81[EUR][1000 genomes]
rs60171840	0.81[EUR][1000 genomes]
rs6986418	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6989591	0.85[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7009940	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs716733	0.86[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73269162	0.87[EUR][1000 genomes]
rs73269170	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73269188	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73269191	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73269198	0.80[EUR][1000 genomes]
rs73269199	0.81[EUR][1000 genomes]
rs73271148	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7834966	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7844932	0.80[ASW][hapmap];0.95[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][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	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16917102	INTS8	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95861000-95881400	Strong transcription	GM12878-XiMat	blood
7	chr8:95863200-95883000	Weak transcription	Small Intestine	intestine
8	chr8:95864200-95884800	Strong transcription	Fetal Stomach	stomach
9	chr8:95870000-95885200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
11	chr8:95870200-95885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:95870200-95885000	Weak transcription	Psoas Muscle	Psoas
13	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
16	chr8:95871400-95889600	Weak transcription	NHLF	lung
17	chr8:95871600-95882800	Weak transcription	Aorta	Aorta
18	chr8:95872200-95880400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:95872200-95880400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:95872400-95887400	Weak transcription	Fetal Heart	heart
21	chr8:95873000-95883400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
23	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
24	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:95874200-95879200	Strong transcription	Osteobl	bone
26	chr8:95874200-95883400	Strong transcription	Liver	Liver
27	chr8:95874200-95883600	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:95874200-95893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:95874400-95879400	Strong transcription	Dnd41	blood
35	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:95874600-95879800	Strong transcription	K562	blood
40	chr8:95874600-95884200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:95874600-95886000	Strong transcription	Left Ventricle	heart
42	chr8:95874600-95888000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr8:95874600-95896200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:95874800-95881400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr8:95874800-95886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:95875200-95881200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:95875400-95880400	Weak transcription	Pancreas	Pancrea
48	chr8:95875400-95880600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:95875400-95887600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:95875600-95879800	Weak transcription	Lung	lung

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