Variant report

Variant	rs10956927
Chromosome Location	chr8:95850943-95850944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95845660..95850054-chr8:95850479..95855714,7	K562	blood:
2	chr8:95837420..95840153-chr8:95849524..95852772,3	MCF-7	breast:
3	chr8:95838399..95841425-chr8:95848369..95851492,3	K562	blood:

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10504939	1.00[JPT][hapmap]
rs11774806	0.90[ASN][1000 genomes]
rs11775475	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775899	0.82[EUR][1000 genomes]
rs11776131	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776489	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776687	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11777132	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11777353	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11778250	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11778553	0.88[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs11779041	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11779252	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11779698	1.00[JPT][hapmap]
rs11781099	0.90[ASN][1000 genomes]
rs11781188	0.87[ASN][1000 genomes]
rs11781429	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11781712	0.96[EUR][1000 genomes]
rs11781757	1.00[JPT][hapmap]
rs11781843	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11782617	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11782818	0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs11783522	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11783589	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11783878	0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs11783941	1.00[JPT][hapmap]
rs11784299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs11786021	0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11786088	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786389	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786429	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786451	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787377	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11787442	0.90[ASN][1000 genomes]
rs12056517	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12056808	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13250762	1.00[JPT][hapmap]
rs16893774	0.89[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16917079	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16917081	0.80[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16917082	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]
rs16917093	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16917102	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16917106	1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs16917117	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs17359493	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17665737	1.00[JPT][hapmap]
rs28399553	0.85[ASW][hapmap];0.83[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.80[MKK][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28399563	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28399571	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3802191	0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs4073916	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4075834	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4345531	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4355737	0.94[CEU][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57063661	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57773845	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58489999	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58675831	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091366	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59265059	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59521030	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60171840	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986418	0.80[CEU][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6989591	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009940	0.80[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs716733	1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs73269162	0.90[ASN][1000 genomes]
rs73269170	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73269188	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73269191	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73269198	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73269199	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73271148	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73271178	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7834966	0.85[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7844932	0.96[GIH][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10956927	INTS8	cis	multi-tissue	Pritchard
rs10956927	MAGED1	trans	lymphoblastoid	seeQTL
rs10956927	MATN2	cis	parietal	SCAN
rs10956927	INTS8	cis	lymphoblastoid	seeQTL
rs10956927	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs10956927	C8orf38	cis	cerebellum	SCAN

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	chr8:95839400-95854800	Strong transcription	Fetal Thymus	thymus
10	chr8:95839400-95857800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:95839400-95859600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:95839400-95872200	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr8:95839400-95872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:95839400-95872400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:95839400-95872400	Strong transcription	Dnd41	blood
16	chr8:95839400-95872600	Strong transcription	Liver	Liver
17	chr8:95839400-95872600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:95839600-95854600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:95839600-95858000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr8:95839600-95863200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:95839600-95873400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:95839600-95873400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:95839800-95852400	Strong transcription	A549	lung
25	chr8:95840200-95853800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:95840200-95860600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:95840400-95855400	Strong transcription	Primary B cells from cord blood	blood
28	chr8:95840600-95860600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr8:95840600-95873000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:95840800-95860600	Strong transcription	Adipose Nuclei	Adipose
31	chr8:95842800-95857200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:95843800-95858600	Weak transcription	Small Intestine	intestine
33	chr8:95844000-95859400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:95845200-95852600	Strong transcription	NHDF-Ad	bronchial
35	chr8:95845200-95858200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr8:95845200-95860800	Strong transcription	Fetal Intestine Large	intestine
37	chr8:95845600-95852400	Strong transcription	K562	blood
38	chr8:95845600-95860600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:95845600-95862800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:95845800-95852400	Strong transcription	Fetal Brain Female	brain
41	chr8:95845800-95872600	Strong transcription	Placenta	Placenta
42	chr8:95846000-95858200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:95846400-95852400	Strong transcription	HUVEC	blood vessel
44	chr8:95846400-95852800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr8:95846400-95853600	Strong transcription	GM12878-XiMat	blood
46	chr8:95846400-95858200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr8:95846400-95858600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:95846600-95855000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:95846800-95852000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:95846800-95852600	Strong transcription	HSMM	muscle

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