Variant report

Variant	rs12547626
Chromosome Location	chr8:125670535-125670536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125647615..125650010-chr8:125670144..125672819,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10086001	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12545201	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12545265	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12545287	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16899898	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16899935	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	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
3	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125655000-125672200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:125662000-125678400	Weak transcription	Fetal Brain Female	brain
3	chr8:125663800-125672200	Weak transcription	Fetal Stomach	stomach
4	chr8:125664200-125672200	Weak transcription	HSMMtube	muscle
5	chr8:125666200-125674200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:125667200-125674400	Enhancers	HepG2	liver
7	chr8:125667600-125671800	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:125667600-125672800	Weak transcription	Small Intestine	intestine
9	chr8:125667800-125671800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:125667800-125672000	Weak transcription	Colonic Mucosa	Colon
11	chr8:125667800-125672200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:125667800-125672600	Weak transcription	Gastric	stomach
13	chr8:125667800-125672600	Weak transcription	Pancreas	Pancrea
14	chr8:125668000-125671600	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:125668000-125671800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:125668200-125671800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:125668200-125671800	Weak transcription	Left Ventricle	heart
18	chr8:125668200-125671800	Weak transcription	Spleen	Spleen
19	chr8:125668200-125672000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:125668200-125672000	Weak transcription	Brain Angular Gyrus	brain
21	chr8:125668200-125672000	Weak transcription	Thymus	Thymus
22	chr8:125668200-125672200	Weak transcription	Esophagus	oesophagus
23	chr8:125668200-125672400	Weak transcription	Right Ventricle	heart
24	chr8:125668400-125671800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:125668600-125670800	Weak transcription	Brain Germinal Matrix	brain
26	chr8:125668600-125671600	Weak transcription	Primary T cells from cord blood	blood
27	chr8:125668600-125671600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:125668600-125671600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:125668600-125671800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:125668600-125671800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:125668600-125671800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:125668600-125671800	Weak transcription	Fetal Heart	heart
33	chr8:125668600-125671800	Weak transcription	Right Atrium	heart
34	chr8:125668600-125671800	Weak transcription	Stomach Mucosa	stomach
35	chr8:125668600-125672000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:125668600-125672000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:125668600-125672200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:125668600-125672200	Weak transcription	Fetal Intestine Large	intestine
39	chr8:125668600-125674800	Weak transcription	Liver	Liver
40	chr8:125668800-125671000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:125668800-125671600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:125668800-125671800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:125668800-125671800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:125668800-125671800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:125669000-125670600	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr8:125669000-125671800	Weak transcription	Psoas Muscle	Psoas
47	chr8:125669000-125672000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:125669200-125671200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:125669400-125673400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:125669800-125670600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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