Variant report

Variant	rs11776687
Chromosome Location	chr8:95836307-95836308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr8:95834750-95836321	GM12878	blood:	n/a	chr8:95836084-95836101
2	POLR2A	chr8:95835037-95836927	MCF10A-Er-Src	breast:	n/a	n/a
3	TAF1	chr8:95834839-95836338	MCF-7	breast:	n/a	n/a
4	PBX3	chr8:95836061-95836686	SK-N-SH	brain:	n/a	chr8:95836381-95836392
5	POLR2A	chr8:95835287-95836615	GM12878	blood:	n/a	n/a
6	RCOR1	chr8:95835832-95836326	K562	blood:	n/a	n/a
7	SIN3AK20	chr8:95834666-95836713	MCF-7	breast:	n/a	n/a
8	CHD1	chr8:95835533-95836519	GM12878	blood:	n/a	n/a
9	TBP	chr8:95834917-95836456	Hela-S3	cervix:	n/a	n/a
10	GATA1	chr8:95834937-95836782	PBDE	blood:	n/a	n/a
11	POLR2A	chr8:95834830-95836365	HCT-116	colon:	n/a	n/a
12	MYC	chr8:95835950-95836566	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr8:95835022-95836739	PBDE	blood:	n/a	n/a
14	JUND	chr8:95836100-95836588	K562	blood:	n/a	n/a
15	ARID3A	chr8:95836303-95836800	K562	blood:	n/a	n/a
16	POLR2A	chr8:95835973-95836866	K562	blood:	n/a	n/a
17	UBTF	chr8:95836305-95836517	K562	blood:	n/a	n/a
18	MAX	chr8:95834909-95836428	Hela-S3	cervix:	n/a	chr8:95835378-95835387
19	POLR2A	chr8:95834940-95836575	HepG2	liver:	n/a	n/a
20	POLR2A	chr8:95834954-95836800	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr8:95835322-95836331	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr8:95835015-95836603	GM12891	blood:	n/a	n/a
23	MXI1	chr8:95834739-95836635	IMR90	lung:	n/a	n/a
24	BRCA1	chr8:95834969-95836634	Hela-S3	cervix:	n/a	n/a
25	RCOR1	chr8:95834876-95836463	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr8:95834912-95836562	Raji	blood:	n/a	n/a
27	POLR2A	chr8:95834802-95836879	K562	blood:	n/a	n/a
28	UBTF	chr8:95834872-95836752	K562	blood:	n/a	n/a
29	RFX5	chr8:95834857-95836342	Hela-S3	cervix:	n/a	n/a
30	MXI1	chr8:95834441-95837020	SK-N-SH	brain:	n/a	n/a
31	MYC	chr8:95834834-95836712	K562	blood:	n/a	chr8:95835378-95835387
32	SIN3A	chr8:95834906-95836345	H1-hESC	embryonic stem cell:	n/a	chr8:95835832-95835845

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95833785..95836631-chr8:95907421..95910283,3	K562	blood:
2	chr16:2802269..2803164-chr8:95835810..95836533,2	NB4	blood:
3	chr8:95835762..95837523-chr8:95870146..95872501,2	K562	blood:
4	chr8:95835209..95837028-chr8:96037260..96039348,2	MCF-7	breast:
5	chr8:95834207..95836973-chr8:95878829..95880737,2	MCF-7	breast:
6	chr8:95834990..95838474-chr8:95840154..95845395,5	K562	blood:
7	chr8:95728931..95732611-chr8:95833805..95837140,4	MCF-7	breast:
8	chr8:95729194..95732045-chr8:95835297..95837724,2	MCF-7	breast:
9	chr8:95833775..95836713-chr8:95905419..95909134,3	MCF-7	breast:
10	chr8:95833645..95837522-chr8:95905761..95911691,14	MCF-7	breast:
11	chr8:95825181..95829614-chr8:95834341..95841614,7	MCF-7	breast:
12	chr8:95836017..95837740-chr8:95890553..95892391,2	MCF-7	breast:
13	chr8:95824061..95826384-chr8:95834647..95837331,2	MCF-7	breast:
14	chr8:95835151..95838228-chr8:96036599..96039705,3	K562	blood:
15	chr8:95835610..95837975-chr8:95846704..95848359,2	K562	blood:
16	chr8:95833831..95839966-chr8:95906478..95910674,7	K562	blood:
17	chr8:95730539..95733622-chr8:95834206..95838888,6	K562	blood:
18	chr8:95835507..95837268-chr8:96280531..96283343,2	MCF-7	breast:
19	chr8:95652142..95654466-chr8:95834020..95837000,3	MCF-7	breast:
20	chr8:95652979..95654493-chr8:95835871..95837977,2	MCF-7	breast:

No data

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000205913	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000167978	Chromatin interaction

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

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

rs_ID	r²[population]
rs10956927	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774806	0.93[ASN][1000 genomes]
rs11775475	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775899	0.82[EUR][1000 genomes]
rs11776131	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776489	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11777132	0.92[EUR][1000 genomes]
rs11777353	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778250	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779041	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779252	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11781099	0.93[ASN][1000 genomes]
rs11781188	0.90[ASN][1000 genomes]
rs11781429	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781712	0.96[EUR][1000 genomes]
rs11781843	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782617	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11783522	0.93[EUR][1000 genomes]
rs11783589	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784299	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786021	0.93[ASN][1000 genomes]
rs11786088	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786389	0.89[AFR][1000 genomes];0.94[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	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787377	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787442	0.93[ASN][1000 genomes]
rs12056517	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12056808	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16893774	0.92[EUR][1000 genomes]
rs16917079	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917081	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917082	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917093	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16917102	0.81[EUR][1000 genomes]
rs16917117	0.82[EUR][1000 genomes]
rs17359493	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28399553	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28399563	0.92[EUR][1000 genomes]
rs28399571	0.89[EUR][1000 genomes]
rs4073916	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075834	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345531	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4355737	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57063661	0.86[AFR][1000 genomes];0.91[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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59265059	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59521030	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60171840	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986418	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989591	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009940	0.80[EUR][1000 genomes]
rs73269162	0.93[ASN][1000 genomes]
rs73269170	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73269188	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269191	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269198	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269199	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271148	0.97[EUR][1000 genomes]
rs73271178	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7834966	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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
rs11776687	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95834400-95836800	Active TSS	A549	lung
2	chr8:95834600-95836400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:95834600-95836400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:95834600-95836400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr8:95834600-95836400	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:95834600-95836400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:95834600-95836400	Active TSS	Brain Substantia Nigra	brain
8	chr8:95834600-95836400	Active TSS	Colon Smooth Muscle	Colon
9	chr8:95834600-95836400	Active TSS	Hela-S3	cervix
10	chr8:95834600-95836600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:95834600-95836600	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr8:95834600-95837000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:95834600-95837000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:95834600-95837000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:95834600-95837200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:95834600-95837200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr8:95834800-95836400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:95834800-95836400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:95834800-95836400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr8:95834800-95836400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr8:95834800-95836400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:95834800-95836400	Active TSS	Fetal Brain Male	brain
23	chr8:95834800-95836400	Active TSS	Fetal Kidney	kidney
24	chr8:95834800-95836400	Active TSS	HMEC	breast
25	chr8:95834800-95836400	Active TSS	NH-A	brain
26	chr8:95834800-95836400	Active TSS	NHDF-Ad	bronchial
27	chr8:95834800-95836400	Active TSS	NHEK	skin
28	chr8:95834800-95836600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:95834800-95836600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:95834800-95836600	Active TSS	Duodenum Mucosa	Duodenum
31	chr8:95834800-95836600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr8:95834800-95836600	Active TSS	Fetal Intestine Large	intestine
33	chr8:95834800-95836600	Active TSS	Fetal Lung	lung
34	chr8:95834800-95836600	Active TSS	Pancreas	Pancrea
35	chr8:95834800-95836600	Active TSS	Psoas Muscle	Psoas
36	chr8:95834800-95836600	Active TSS	HSMM	muscle
37	chr8:95834800-95836600	Active TSS	HSMMtube	muscle
38	chr8:95834800-95836800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr8:95834800-95836800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:95834800-95836800	Active TSS	Fetal Muscle Trunk	muscle
41	chr8:95834800-95836800	Active TSS	Ovary	ovary
42	chr8:95834800-95837000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr8:95834800-95837000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:95834800-95837000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:95834800-95837000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr8:95834800-95837000	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr8:95834800-95837000	Active TSS	Colonic Mucosa	Colon
48	chr8:95834800-95837200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr8:95834800-95837200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr8:95834800-95837200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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