Variant report

Variant	rs17359493
Chromosome Location	chr8:95856911-95856912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95856096..95858361-chr8:95893354..95895940,2	MCF-7	breast:
2	chr8:95856905..95859854-chr8:95889199..95892005,2	K562	blood:
3	chr8:95855860..95860048-chr8:95905207..95908854,5	K562	blood:
4	chr8:95856055..95857708-chr8:95885549..95887933,2	MCF-7	breast:
5	chr8:95833838..95836965-chr8:95856644..95859551,3	MCF-7	breast:

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

Extended variants
information (count: 91 )
Associated
traits (count: 3 )

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

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];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774806	0.93[ASN][1000 genomes]
rs11775475	0.89[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775899	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11776131	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776489	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776687	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777132	0.92[EUR][1000 genomes]
rs11777353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778250	0.84[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	0.96[EUR][1000 genomes];0.88[ASN][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];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781712	0.96[EUR][1000 genomes]
rs11781757	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781843	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782617	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11782818	1.00[JPT][hapmap]
rs11783522	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11783589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.84[AMR][1000 genomes];1.00[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];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786429	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786451	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787377	0.84[AMR][1000 genomes];0.99[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];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12056808	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13250762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893774	0.89[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs16917079	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917081	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16917102	1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16917106	1.00[JPT][hapmap]
rs16917117	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs16917224	1.00[CHB][hapmap]
rs17665737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28399553	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28399563	0.92[EUR][1000 genomes]
rs28399571	0.89[EUR][1000 genomes]
rs3802191	1.00[JPT][hapmap]
rs4073916	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075834	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323442	1.00[CHB][hapmap]
rs4345531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4355737	0.95[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57063661	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57773845	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489999	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58675831	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59091366	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59265059	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59521030	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60171840	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471505	1.00[CHB][hapmap]
rs6651271	1.00[CHB][hapmap]
rs6986418	0.80[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989591	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008542	1.00[CHB][hapmap]
rs7009940	0.80[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs716733	1.00[JPT][hapmap]
rs73269162	0.93[ASN][1000 genomes]
rs73269170	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73269188	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269191	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269198	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269199	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271148	0.97[EUR][1000 genomes]
rs73271178	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7834966	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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

Variant related diseases (count:1)

Disease	PMID	Source
Type 2 diabetes	25102180	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17359493	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs17359493	INTS8	cis	multi-tissue	Pritchard

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	chr8:95838600-95860400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:95838800-95876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:95839400-95857800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:95839400-95859600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:95839400-95872200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr8:95839400-95872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:95839400-95872400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:95839400-95872400	Strong transcription	Dnd41	blood
15	chr8:95839400-95872600	Strong transcription	Liver	Liver
16	chr8:95839400-95872600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:95839600-95858000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr8:95839600-95863200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr8:95839600-95873400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:95839600-95873400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:95840200-95860600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:95840600-95860600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr8:95840600-95873000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:95840800-95860600	Strong transcription	Adipose Nuclei	Adipose
26	chr8:95842800-95857200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:95843800-95858600	Weak transcription	Small Intestine	intestine
28	chr8:95844000-95859400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:95845200-95858200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr8:95845200-95860800	Strong transcription	Fetal Intestine Large	intestine
31	chr8:95845600-95860600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:95845600-95862800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:95845800-95872600	Strong transcription	Placenta	Placenta
34	chr8:95846000-95858200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:95846400-95858200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:95846400-95858600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:95847400-95873000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
39	chr8:95848400-95859400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:95848400-95873000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:95848800-95869000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:95849800-95857800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr8:95849800-95859600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:95849800-95860400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:95849800-95862800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:95849800-95872200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:95849800-95873000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:95850000-95859600	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:95850000-95859600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:95850000-95859600	Strong transcription	Osteobl	bone

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