Variant report

Variant	rs6989591
Chromosome Location	chr8:95874580-95874581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:95874574-95875055	HL-60	blood:	n/a	n/a
2	POLR2A	chr8:95874553-95875163	HL-60	blood:	n/a	n/a
3	MAX	chr8:95874519-95875241	NB4	blood:	n/a	n/a
4	MYC	chr8:95874559-95875052	NB4	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95866505..95869055-chr8:95873345..95875262,2	MCF-7	breast:
2	chr8:95874082..95876354-chr8:95878835..95880695,2	MCF-7	breast:
3	chr8:95873342..95875592-chr8:95877936..95879771,2	K562	blood:
4	chr8:95865840..95868404-chr8:95874042..95875890,3	MCF-7	breast:
5	chr8:95873342..95877174-chr8:95877936..95881669,4	K562	blood:

No data

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10504939	1.00[JPT][hapmap]
rs10956927	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]
rs11775475	0.89[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775899	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11776131	0.96[EUR][1000 genomes]
rs11776489	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11776687	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11777132	0.92[EUR][1000 genomes]
rs11777353	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes]
rs11778250	0.84[EUR][1000 genomes]
rs11778553	0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs11779041	0.82[EUR][1000 genomes]
rs11779252	0.96[EUR][1000 genomes]
rs11779698	1.00[JPT][hapmap]
rs11781429	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11781712	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781757	1.00[JPT][hapmap]
rs11781843	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11782617	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782818	0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs11783522	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11783589	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]
rs11783878	0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs11783941	1.00[JPT][hapmap]
rs11784299	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]
rs11786021	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11786088	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11786389	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]
rs11786429	0.95[EUR][1000 genomes]
rs11786451	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787377	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12056517	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12056808	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13250762	1.00[JPT][hapmap]
rs16893774	0.89[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs16917079	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16917081	0.80[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16917082	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes]
rs16917093	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16917102	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]
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];0.85[MEX][hapmap];0.82[EUR][1000 genomes]
rs17359493	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]
rs17665737	1.00[JPT][hapmap]
rs28399553	0.92[ASW][hapmap];0.83[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28399563	0.92[EUR][1000 genomes]
rs28399571	0.89[EUR][1000 genomes]
rs3802191	0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs4073916	0.87[EUR][1000 genomes]
rs4075834	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4345531	1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[EUR][1000 genomes]
rs4355737	0.94[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57063661	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57773845	0.96[EUR][1000 genomes]
rs58489999	0.92[EUR][1000 genomes]
rs58675831	0.99[EUR][1000 genomes]
rs59091366	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59265059	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59521030	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60171840	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986418	0.85[ASW][hapmap];0.80[CEU][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.82[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]
rs73269170	0.82[EUR][1000 genomes]
rs73269188	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73269191	0.82[EUR][1000 genomes]
rs73269198	0.99[EUR][1000 genomes]
rs73269199	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73271148	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271178	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7834966	0.92[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6989591	INTS8	cis	lymphoblastoid	seeQTL
rs6989591	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs6989591	C8orf38	cis	cerebellum	SCAN
rs6989591	MATN2	cis	parietal	SCAN
rs6989591	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	chr8:95836800-95874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:95838800-95876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
8	chr8:95861000-95881400	Strong transcription	GM12878-XiMat	blood
9	chr8:95863200-95883000	Weak transcription	Small Intestine	intestine
10	chr8:95864000-95875800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:95864200-95884800	Strong transcription	Fetal Stomach	stomach
12	chr8:95864800-95874600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:95868600-95874600	Weak transcription	Brain Angular Gyrus	brain
14	chr8:95870000-95875400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:95870000-95885200	Weak transcription	Brain Substantia Nigra	brain
16	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
17	chr8:95870200-95874600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:95870200-95877400	Weak transcription	NHEK	skin
19	chr8:95870200-95878600	Weak transcription	Spleen	Spleen
20	chr8:95870200-95885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:95870200-95885000	Weak transcription	Psoas Muscle	Psoas
22	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:95870400-95877400	Weak transcription	HepG2	liver
24	chr8:95870600-95874600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:95870600-95878000	Weak transcription	NHDF-Ad	bronchial
26	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:95871000-95875200	Weak transcription	Colonic Mucosa	Colon
28	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
29	chr8:95871400-95874600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:95871400-95874600	Weak transcription	Right Ventricle	heart
31	chr8:95871400-95875200	Weak transcription	Lung	lung
32	chr8:95871400-95889600	Weak transcription	NHLF	lung
33	chr8:95871600-95874600	Weak transcription	Gastric	stomach
34	chr8:95871600-95874600	Weak transcription	K562	blood
35	chr8:95871600-95874800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:95871600-95882800	Weak transcription	Aorta	Aorta
37	chr8:95871800-95877600	Weak transcription	Ovary	ovary
38	chr8:95872200-95874600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:95872200-95874600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:95872200-95874600	Weak transcription	Fetal Lung	lung
41	chr8:95872200-95874600	Weak transcription	Left Ventricle	heart
42	chr8:95872200-95874600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:95872200-95874600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:95872200-95874600	Weak transcription	HMEC	breast
45	chr8:95872200-95874600	Weak transcription	HSMM	muscle
46	chr8:95872200-95874600	Weak transcription	HSMMtube	muscle
47	chr8:95872200-95875200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:95872200-95877400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:95872200-95878600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:95872200-95880400	Weak transcription	H9 Cell Line	embryonic stem cell

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