Variant report

Variant	rs6987769
Chromosome Location	chr8:125788168-125788169
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125787394..125789828-chr8:125939944..125942662,2	MCF-7	breast:
2	chr8:125784279..125787220-chr8:125787863..125791688,4	K562	blood:
3	chr8:125770013..125772423-chr8:125787066..125788729,2	K562	blood:
4	chr8:125786607..125791262-chr8:125825936..125829275,5	K562	blood:
5	chr8:125784252..125789525-chr8:125791354..125795581,7	MCF-7	breast:
6	chr8:125783670..125786724-chr8:125787863..125791688,3	K562	blood:
7	chr8:125781743..125783690-chr8:125787007..125789653,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10096762	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10096773	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10111362	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10441517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956210	0.93[ASN][1000 genomes]
rs10956211	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956212	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956213	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34102348	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34642461	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35401131	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35468637	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35806510	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36117845	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871545	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871548	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60194127	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62530567	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62530568	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470281	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470283	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470285	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66919556	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6998379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7000790	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465312	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7465366	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7821674	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7822172	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7822246	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7822339	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7823921	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7824418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840165	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840339	0.95[ASN][1000 genomes]
rs7840519	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840542	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297697	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297698	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643204	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125774200-125795800	Weak transcription	Pancreas	Pancrea
2	chr8:125783600-125788800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:125784800-125788200	Weak transcription	Spleen	Spleen
4	chr8:125785000-125788200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:125785000-125788200	Weak transcription	Fetal Intestine Large	intestine
6	chr8:125785000-125788200	Weak transcription	Right Atrium	heart
7	chr8:125785000-125788200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:125785000-125791200	Weak transcription	Placenta	Placenta
9	chr8:125785000-125793000	Weak transcription	Esophagus	oesophagus
10	chr8:125785000-125793200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:125785000-125794000	Weak transcription	Primary B cells from cord blood	blood
12	chr8:125785000-125794600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:125785600-125788200	Weak transcription	NHLF	lung
14	chr8:125786200-125788200	Weak transcription	Adipose Nuclei	Adipose
15	chr8:125787400-125792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:125787600-125788400	Enhancers	Fetal Intestine Small	intestine
17	chr8:125787600-125788600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:125787600-125788600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:125787600-125788800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:125787600-125788800	Enhancers	Left Ventricle	heart
21	chr8:125787600-125789000	Enhancers	Fetal Heart	heart
22	chr8:125787600-125789600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:125787800-125788400	Enhancers	Psoas Muscle	Psoas
24	chr8:125787800-125788600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:125787800-125788600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:125787800-125788600	Enhancers	NHDF-Ad	bronchial
27	chr8:125787800-125788800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:125787800-125788800	Enhancers	Brain Angular Gyrus	brain
29	chr8:125787800-125788800	Enhancers	Brain Hippocampus Middle	brain
30	chr8:125787800-125788800	Enhancers	Brain Substantia Nigra	brain
31	chr8:125787800-125788800	Enhancers	Lung	lung
32	chr8:125787800-125789000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:125787800-125789000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:125787800-125789000	Enhancers	Brain Anterior Caudate	brain
35	chr8:125787800-125789000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:125787800-125789000	Enhancers	Fetal Lung	lung
37	chr8:125788000-125788200	Enhancers	HepG2	liver
38	chr8:125788000-125788400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:125788000-125788600	Enhancers	Fetal Muscle Trunk	muscle
40	chr8:125788000-125788800	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:125788000-125788800	Enhancers	Right Ventricle	heart
42	chr8:125788000-125789000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:125788000-125789000	Enhancers	Fetal Muscle Leg	muscle

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