Variant report

Variant	rs16917082
Chromosome Location	chr8:95861825-95861826
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95854424..95856864-chr8:95858122..95861906,4	MCF-7	breast:
2	chr8:95859658..95862483-chr8:95907612..95910105,3	K562	blood:
3	chr8:95854622..95856687-chr8:95860852..95863036,2	K562	blood:
4	chr8:95860318..95862341-chr8:95865317..95866860,2	K562	blood:
5	chr8:95834166..95836580-chr8:95861416..95864115,2	MCF-7	breast:
6	chr8:95860878..95862483-chr8:95907302..95909537,2	K562	blood:

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10096455	1.00[CHB][hapmap]
rs10098197	1.00[CHB][hapmap]
rs10111300	1.00[CHB][hapmap]
rs10113545	1.00[CHB][hapmap]
rs1031388	1.00[CHB][hapmap]
rs10504939	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956927	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774806	0.93[ASN][1000 genomes]
rs11775475	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs11775899	0.82[EUR][1000 genomes]
rs11776131	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776489	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776687	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777132	0.91[EUR][1000 genomes]
rs11777353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778250	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778553	1.00[JPT][hapmap]
rs11779041	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779252	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11779282	0.84[AMR][1000 genomes]
rs11779698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781040	1.00[CHB][hapmap]
rs11781099	0.93[ASN][1000 genomes]
rs11781188	0.90[ASN][1000 genomes]
rs11781429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781712	0.97[EUR][1000 genomes]
rs11781757	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781843	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782617	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs11782818	1.00[JPT][hapmap]
rs11783522	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11783589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783878	1.00[JPT][hapmap]
rs11783941	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11784299	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786021	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11786088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786429	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786451	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787377	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787442	0.93[ASN][1000 genomes]
rs12056517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs12056808	0.97[EUR][1000 genomes]
rs13250762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893774	0.88[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16917079	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917081	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16917102	0.83[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs16917106	1.00[JPT][hapmap]
rs16917117	1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16917224	1.00[CHB][hapmap]
rs17359493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28399553	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs28399563	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28399571	0.88[EUR][1000 genomes]
rs2904889	0.84[AMR][1000 genomes]
rs3802191	1.00[JPT][hapmap]
rs4073916	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075834	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323442	1.00[CHB][hapmap]
rs4345531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4355737	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57063661	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57773845	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489999	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58675831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59091366	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59265059	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59521030	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60171840	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471505	1.00[CHB][hapmap]
rs6651271	1.00[CHB][hapmap]
rs6986418	0.84[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989591	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes]
rs7008542	1.00[CHB][hapmap]
rs7009940	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs716733	1.00[JPT][hapmap]
rs73269162	0.93[ASN][1000 genomes]
rs73269170	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73269188	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269191	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269198	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269199	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73271178	0.83[EUR][1000 genomes]
rs7834966	0.94[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297950	1.00[CHB][hapmap]

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
rs16917082	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95836800-95866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:95836800-95874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:95837600-95869800	Weak transcription	Psoas Muscle	Psoas
6	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:95838800-95876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:95839400-95872200	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr8:95839400-95872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:95839400-95872400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:95839400-95872400	Strong transcription	Dnd41	blood
12	chr8:95839400-95872600	Strong transcription	Liver	Liver
13	chr8:95839400-95872600	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:95839600-95863200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr8:95839600-95873400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:95839600-95873400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:95840600-95873000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:95845600-95862800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:95845800-95872600	Strong transcription	Placenta	Placenta
21	chr8:95847400-95873000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
23	chr8:95848400-95873000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:95848800-95869000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:95849800-95862800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:95849800-95872200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:95849800-95873000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:95850400-95872600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:95850600-95872600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:95851200-95866000	Weak transcription	NHLF	lung
31	chr8:95851400-95869000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:95851400-95870000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:95851400-95871800	Weak transcription	Fetal Heart	heart
34	chr8:95851600-95874200	Weak transcription	Pancreas	Pancrea
35	chr8:95852200-95866200	Weak transcription	Colonic Mucosa	Colon
36	chr8:95852400-95867000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:95852600-95865000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:95854000-95866000	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:95854600-95872400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:95855400-95864400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:95855400-95865600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:95855400-95866000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:95855400-95867000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:95855600-95873800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:95855600-95874200	Strong transcription	Fetal Thymus	thymus
46	chr8:95855800-95873000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr8:95856000-95865600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:95856200-95862400	Weak transcription	HSMMtube	muscle
49	chr8:95856200-95864000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:95856200-95865600	Weak transcription	Hela-S3	cervix

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