Variant report

Variant	rs7009940
Chromosome Location	chr8:95894800-95894801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95892148-95895200	K562	blood:	n/a	n/a
2	POLR2A	chr8:95894797-95894806	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95890092..95892791-chr8:95893450..95895863,3	MCF-7	breast:
2	chr8:95893226..95895661-chr8:95896147..95898590,2	K562	blood:
3	chr8:95893455..95896139-chr8:95897032..95901216,5	MCF-7	breast:
4	chr8:95894291..95896263-chr8:95907062..95909082,2	MCF-7	breast:
5	chr8:95885964..95888442-chr8:95891899..95896049,4	MCF-7	breast:
6	chr8:95856096..95858361-chr8:95893354..95895940,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272509	TF binding region
ENSG00000175305	Chromatin interaction
ENSG00000272509	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10504939	1.00[JPT][hapmap]
rs10956927	0.80[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11775475	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs11775899	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11776489	0.80[EUR][1000 genomes]
rs11776687	0.80[EUR][1000 genomes]
rs11776830	0.90[EUR][1000 genomes]
rs11777353	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs11778250	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11778553	0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs11779041	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11779698	1.00[JPT][hapmap]
rs11781429	0.80[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11781757	1.00[JPT][hapmap]
rs11782617	0.80[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11782818	0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs11783522	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11783589	0.80[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11783878	0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs11783941	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784299	0.80[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11786021	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11786088	0.80[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11786389	0.80[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11786451	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056517	0.80[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12056808	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13250762	1.00[JPT][hapmap]
rs16893774	1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16917079	0.80[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs16917081	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16917082	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs16917093	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs16917102	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16917106	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917117	1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17359493	0.80[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs17665737	1.00[JPT][hapmap]
rs28399553	0.86[ASW][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.81[YRI][hapmap];0.97[ASN][1000 genomes]
rs28399563	0.97[ASN][1000 genomes]
rs28399571	0.97[ASN][1000 genomes]
rs3802191	0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs4075834	1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs4345531	1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4355737	0.80[EUR][1000 genomes]
rs57063661	0.80[EUR][1000 genomes]
rs59091366	0.80[EUR][1000 genomes]
rs59265059	0.80[EUR][1000 genomes]
rs59521030	0.80[EUR][1000 genomes]
rs60171840	0.80[EUR][1000 genomes]
rs6986418	0.93[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6989591	0.80[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs716733	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73269162	0.87[EUR][1000 genomes]
rs73269170	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73269188	0.80[EUR][1000 genomes]
rs73269191	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73269199	0.80[EUR][1000 genomes]
rs73271148	0.81[EUR][1000 genomes]
rs73271178	0.94[ASN][1000 genomes]
rs7834966	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7844932	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7009940	MATN2	cis	parietal	SCAN
rs7009940	INTS8	cis	lymphoblastoid	seeQTL
rs7009940	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:95874600-95896200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:95875600-95904400	Strong transcription	Fetal Thymus	thymus
19	chr8:95875800-95895000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:95876000-95896200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:95876200-95899200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:95876200-95906600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:95876800-95899600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:95877000-95895800	Strong transcription	Adipose Nuclei	Adipose
25	chr8:95877000-95896200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:95877000-95899200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:95877200-95896800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr8:95879000-95898000	Weak transcription	Right Ventricle	heart
29	chr8:95879200-95895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:95879200-95906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:95880200-95894800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:95881200-95898000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:95881200-95905800	Weak transcription	Spleen	Spleen
34	chr8:95882200-95906600	Weak transcription	Gastric	stomach
35	chr8:95882600-95895200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:95882600-95895200	Strong transcription	Primary B cells from cord blood	blood
37	chr8:95882800-95896200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr8:95883000-95894800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr8:95883000-95895200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:95883400-95905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:95883600-95905600	Weak transcription	Small Intestine	intestine
42	chr8:95883800-95899200	Strong transcription	NHDF-Ad	bronchial
43	chr8:95884400-95895600	Strong transcription	Liver	Liver
44	chr8:95884400-95898200	Strong transcription	Dnd41	blood
45	chr8:95885000-95894800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr8:95885000-95896400	Strong transcription	HSMM	muscle
47	chr8:95885000-95899400	Strong transcription	K562	blood
48	chr8:95885200-95894800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr8:95885400-95898800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr8:95886000-95898400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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