Variant report

Variant	rs6986014
Chromosome Location	chr8:125717793-125717794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125715096..125718374-chr8:125737684..125740706,3	MCF-7	breast:
2	chr8:125716224..125718239-chr8:125740419..125742523,2	MCF-7	breast:
3	chr8:125717643..125720038-chr8:125720908..125723820,4	MCF-7	breast:
4	chr8:125716359..125718727-chr8:125721562..125724424,2	K562	blood:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10956197	0.90[JPT][hapmap]
rs12543812	0.83[ASN][1000 genomes]
rs12547677	0.80[CEU][hapmap];0.85[CHB][hapmap]
rs12547678	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2116082	0.90[JPT][hapmap]
rs3857954	0.94[JPT][hapmap]
rs6985856	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125701000-125721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:125702800-125721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:125702800-125721400	Weak transcription	Fetal Lung	lung
5	chr8:125703000-125720600	Weak transcription	Fetal Thymus	thymus
6	chr8:125705000-125722200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:125705600-125720000	Weak transcription	Lung	lung
8	chr8:125706000-125719000	Weak transcription	Esophagus	oesophagus
9	chr8:125706600-125720800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:125706800-125720400	Weak transcription	Stomach Mucosa	stomach
11	chr8:125707400-125721200	Weak transcription	Primary T cells from cord blood	blood
12	chr8:125711600-125718400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:125711800-125720200	Weak transcription	K562	blood
14	chr8:125711800-125721400	Weak transcription	Osteobl	bone
15	chr8:125712000-125720200	Weak transcription	HSMMtube	muscle
16	chr8:125712000-125720800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:125712200-125718000	Weak transcription	Fetal Brain Male	brain
18	chr8:125712200-125718800	Weak transcription	Fetal Stomach	stomach
19	chr8:125712200-125720000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:125712200-125721200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:125712200-125721400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:125714000-125718600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:125714000-125720600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:125714200-125718800	Weak transcription	Right Ventricle	heart
25	chr8:125714400-125718600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:125714600-125718200	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:125714800-125718800	Weak transcription	Brain Substantia Nigra	brain
28	chr8:125714800-125718800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:125714800-125718800	Weak transcription	Small Intestine	intestine
30	chr8:125715000-125718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:125715000-125718000	Weak transcription	Brain Anterior Caudate	brain
32	chr8:125715000-125718800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:125715000-125720400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:125715000-125720400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:125715200-125718600	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:125715400-125718200	Weak transcription	NHEK	skin
37	chr8:125715600-125718600	Weak transcription	HUVEC	blood vessel
38	chr8:125716000-125721600	Weak transcription	Fetal Intestine Small	intestine
39	chr8:125716200-125720200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:125716200-125720400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:125716200-125720400	Weak transcription	Adipose Nuclei	Adipose
42	chr8:125716200-125720600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:125716200-125724800	Enhancers	Psoas Muscle	Psoas
44	chr8:125716400-125717800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:125716400-125718000	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:125716400-125718400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:125716400-125718600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:125716400-125718600	Weak transcription	Liver	Liver
49	chr8:125716400-125718600	Weak transcription	HMEC	breast
50	chr8:125716400-125719800	Weak transcription	Fetal Muscle Trunk	muscle

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