Variant report

Variant	rs7008915
Chromosome Location	chr8:126098783-126098784
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126097768..126101153-chr8:126102094..126105142,6	MCF-7	breast:
2	chr8:126094932..126099483-chr8:126100368..126105771,7	K562	blood:
3	chr8:126097682..126099676-chr8:126442452..126445308,2	MCF-7	breast:
4	chr8:126072198..126074417-chr8:126098170..126100467,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164961	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10086441	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10087191	0.89[ASN][1000 genomes]
rs10087246	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10092712	0.94[CEU][hapmap]
rs10095967	0.88[CEU][hapmap]
rs10096319	0.86[CEU][hapmap]
rs10097947	0.80[EUR][1000 genomes]
rs10102066	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10102230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10103150	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104486	0.88[CEU][hapmap]
rs10111425	0.80[EUR][1000 genomes]
rs1019705	0.88[CEU][hapmap]
rs10216429	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10216437	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10429356	0.81[CHB][hapmap]
rs10441518	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10481152	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10956231	0.83[ASN][1000 genomes]
rs1156712	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1156713	0.89[ASN][1000 genomes]
rs12542195	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs12542833	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12543024	0.88[ASN][1000 genomes]
rs12545710	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12548159	0.87[ASN][1000 genomes]
rs12548192	0.87[ASN][1000 genomes]
rs12550607	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12682006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319792	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs13249949	0.89[ASN][1000 genomes]
rs13251808	0.89[ASN][1000 genomes]
rs13251846	0.87[ASN][1000 genomes]
rs13257850	0.89[ASN][1000 genomes]
rs13263702	0.94[CEU][hapmap]
rs13265195	0.80[ASN][1000 genomes]
rs13282919	0.80[EUR][1000 genomes]
rs16900177	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16900238	0.89[ASN][1000 genomes]
rs16900316	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2033130	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2217132	0.94[CEU][hapmap]
rs2288310	0.88[CEU][hapmap]
rs2288312	0.94[CEU][hapmap]
rs2303522	0.94[CEU][hapmap];0.81[AMR][1000 genomes]
rs2303525	0.81[CEU][hapmap]
rs2382998	0.80[ASN][1000 genomes]
rs2384915	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2384921	0.93[CEU][hapmap];0.84[CHB][hapmap]
rs28670937	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28760092	0.89[ASN][1000 genomes]
rs28873392	0.89[ASN][1000 genomes]
rs36090120	0.81[ASN][1000 genomes]
rs3750234	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3750235	0.89[ASN][1000 genomes]
rs3750236	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3750237	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3793402	0.85[ASN][1000 genomes]
rs3793447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3860845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4007685	0.89[ASN][1000 genomes]
rs4347009	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4870932	0.87[ASN][1000 genomes]
rs4870933	0.87[ASN][1000 genomes]
rs6470326	0.94[CEU][hapmap]
rs6470327	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6470328	0.89[ASN][1000 genomes]
rs6651230	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989556	0.94[CEU][hapmap]
rs6989560	0.89[ASN][1000 genomes]
rs6991343	0.80[EUR][1000 genomes]
rs7003069	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7007960	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7018283	0.96[ASN][1000 genomes]
rs7357375	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs7813917	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7825911	0.87[ASN][1000 genomes]
rs7832609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297707	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297708	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297709	0.94[CEU][hapmap]
rs966946	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr8:126046600-126099600	Strong transcription	Primary B cells from peripheral blood	blood
5	chr8:126052800-126103200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:126064200-126102800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:126066600-126099400	Strong transcription	Primary B cells from cord blood	blood
8	chr8:126071800-126103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:126084000-126102400	Weak transcription	Fetal Heart	heart
10	chr8:126085400-126102400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:126085400-126102600	Weak transcription	Stomach Mucosa	stomach
12	chr8:126088400-126098800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:126090800-126100200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:126090800-126102800	Weak transcription	Aorta	Aorta
15	chr8:126091000-126103000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:126091200-126102600	Weak transcription	Fetal Brain Male	brain
17	chr8:126091200-126102600	Weak transcription	NHLF	lung
18	chr8:126091200-126103000	Weak transcription	Esophagus	oesophagus
19	chr8:126091200-126103000	Weak transcription	Pancreas	Pancrea
20	chr8:126091200-126103200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:126091800-126101800	Weak transcription	Fetal Intestine Small	intestine
22	chr8:126091800-126103200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:126093000-126102800	Weak transcription	Small Intestine	intestine
24	chr8:126093000-126103000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:126093200-126101800	Weak transcription	K562	blood
26	chr8:126094000-126099000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:126094000-126100800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:126094000-126101800	Weak transcription	Thymus	Thymus
29	chr8:126094000-126102200	Weak transcription	Fetal Brain Female	brain
30	chr8:126094000-126103000	Weak transcription	Lung	lung
31	chr8:126094000-126103000	Weak transcription	Right Ventricle	heart
32	chr8:126094200-126102400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:126094400-126100800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:126094400-126101400	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:126094400-126101800	Weak transcription	Brain Germinal Matrix	brain
36	chr8:126094400-126102600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:126094400-126102800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:126094400-126102800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:126094400-126102800	Weak transcription	HSMMtube	muscle
40	chr8:126094400-126103000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:126094400-126103000	Weak transcription	Left Ventricle	heart
42	chr8:126094400-126103000	Weak transcription	Ovary	ovary
43	chr8:126094600-126100400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr8:126094600-126100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:126094600-126101200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:126094600-126102400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:126094600-126102600	Weak transcription	A549	lung
48	chr8:126094600-126103000	Weak transcription	Colonic Mucosa	Colon
49	chr8:126094800-126102800	Weak transcription	NH-A	brain
50	chr8:126095000-126100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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