Variant report

Variant	rs752492
Chromosome Location	chr8:125615738-125615739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125553411..125556261-chr8:125614070..125616092,2	K562	blood:
2	chr8:125612814..125615760-chr8:125633256..125635974,2	MCF-7	breast:
3	chr8:125613556..125616503-chr8:125825472..125829364,3	K562	blood:
4	chr8:125548504..125551469-chr8:125615421..125618016,2	MCF-7	breast:
5	chr8:125609071..125612556-chr8:125615058..125616813,3	K562	blood:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10100057	0.84[AMR][1000 genomes]
rs16899848	0.93[CEU][hapmap];0.94[JPT][hapmap]
rs1808600	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28379655	0.86[EUR][1000 genomes]
rs3857949	0.89[JPT][hapmap]
rs3857950	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870908	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530668	0.91[EUR][1000 genomes]
rs62530669	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6984853	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6989466	0.87[CEU][hapmap]
rs7816697	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297695	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs9987267	0.81[EUR][1000 genomes]
rs9987275	0.81[CEU][hapmap]

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
2	chr8:125596200-125616400	Weak transcription	HSMMtube	muscle
3	chr8:125602000-125620400	Weak transcription	HMEC	breast
4	chr8:125603000-125616800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:125603400-125617000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:125603400-125617400	Weak transcription	Esophagus	oesophagus
7	chr8:125603400-125625800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:125605000-125615800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:125605800-125617000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:125606000-125617200	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:125606400-125617000	Weak transcription	Pancreas	Pancrea
12	chr8:125606600-125617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:125607400-125617000	Enhancers	Fetal Thymus	thymus
14	chr8:125607600-125617000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:125608000-125616600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:125608200-125615800	Weak transcription	Psoas Muscle	Psoas
17	chr8:125608200-125616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:125609000-125615800	Weak transcription	Primary T cells from cord blood	blood
19	chr8:125609000-125615800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:125609200-125616000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:125609200-125618600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:125609400-125617000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:125610000-125616200	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:125610000-125617000	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:125610000-125617600	Weak transcription	Fetal Intestine Large	intestine
26	chr8:125610200-125616600	Enhancers	Primary B cells from cord blood	blood
27	chr8:125610200-125616800	Enhancers	Brain Substantia Nigra	brain
28	chr8:125610600-125616800	Enhancers	Brain Germinal Matrix	brain
29	chr8:125610600-125622800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:125611200-125616800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:125611400-125617000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:125611800-125617000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:125612000-125616200	Enhancers	Right Atrium	heart
34	chr8:125612000-125616400	Enhancers	Left Ventricle	heart
35	chr8:125612000-125616400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:125612000-125621800	Enhancers	Spleen	Spleen
37	chr8:125612800-125616000	Enhancers	Right Ventricle	heart
38	chr8:125612800-125618600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:125613000-125617000	Weak transcription	Lung	lung
40	chr8:125613200-125617000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:125613200-125622800	Weak transcription	Gastric	stomach
42	chr8:125613800-125617000	Weak transcription	Fetal Stomach	stomach
43	chr8:125614000-125616400	Enhancers	Adipose Nuclei	Adipose
44	chr8:125614000-125616800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:125614000-125616800	Weak transcription	Osteobl	bone
46	chr8:125614000-125621200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:125614000-125628800	Enhancers	Liver	Liver
48	chr8:125614200-125615800	Weak transcription	Fetal Brain Female	brain
49	chr8:125614200-125616000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:125614200-125616600	Enhancers	GM12878-XiMat	blood

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