Variant report

Variant	rs62530668
Chromosome Location	chr8:125617875-125617876
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125607877..125610696-chr8:125617418..125620245,2	K562	blood:
2	chr8:125611688..125614263-chr8:125617134..125618920,2	K562	blood:
3	chr8:125548504..125551469-chr8:125615421..125618016,2	MCF-7	breast:
4	chr8:125617349..125622220-chr8:125623810..125627112,5	K562	blood:
5	chr8:125606519..125608601-chr8:125616738..125618798,2	MCF-7	breast:
6	chr8:125615948..125618752-chr8:125631316..125634708,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000170873	Chromatin interaction

rs_ID	r²[population]
rs1808600	0.91[EUR][1000 genomes]
rs2014895	0.91[EUR][1000 genomes]
rs28379655	0.84[EUR][1000 genomes]
rs4870908	0.90[EUR][1000 genomes]
rs62530669	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6984853	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs752492	0.91[EUR][1000 genomes]
rs7816697	0.84[EUR][1000 genomes]
rs9297695	0.86[EUR][1000 genomes]

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125602000-125620400	Weak transcription	HMEC	breast
2	chr8:125603400-125625800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125609200-125618600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:125610600-125622800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125612000-125621800	Enhancers	Spleen	Spleen
6	chr8:125612800-125618600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:125613200-125622800	Weak transcription	Gastric	stomach
8	chr8:125614000-125621200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:125614000-125628800	Enhancers	Liver	Liver
10	chr8:125614200-125618600	Weak transcription	Fetal Heart	heart
11	chr8:125614200-125618600	Weak transcription	HepG2	liver
12	chr8:125614200-125622400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:125614400-125627400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:125614800-125625600	Enhancers	Fetal Muscle Leg	muscle
15	chr8:125615000-125618000	Enhancers	Placenta	Placenta
16	chr8:125615400-125622800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:125615800-125618000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:125615800-125620800	Enhancers	K562	blood
19	chr8:125616000-125618200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:125616000-125621000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:125616000-125630200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:125616200-125618200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:125616400-125618000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:125616600-125618200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:125616800-125618000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:125616800-125618000	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr8:125616800-125618000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:125616800-125618000	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr8:125616800-125618000	Flanking Active TSS	Thymus	Thymus
30	chr8:125616800-125618200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:125616800-125619800	Enhancers	Left Ventricle	heart
32	chr8:125617000-125618000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:125617000-125618000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:125617000-125618000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr8:125617000-125618000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:125617000-125618000	Enhancers	Lung	lung
37	chr8:125617000-125618000	Enhancers	Pancreas	Pancrea
38	chr8:125617000-125618200	Enhancers	Right Ventricle	heart
39	chr8:125617200-125618000	Enhancers	Psoas Muscle	Psoas
40	chr8:125617200-125618000	Enhancers	HUVEC	blood vessel
41	chr8:125617200-125621400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:125617200-125622200	Enhancers	Right Atrium	heart
43	chr8:125617400-125618000	Enhancers	Esophagus	oesophagus
44	chr8:125617400-125618000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:125617400-125618000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr8:125617400-125618200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr8:125617400-125618800	Weak transcription	Fetal Kidney	kidney
48	chr8:125617400-125619000	Enhancers	Adipose Nuclei	Adipose
49	chr8:125617400-125619400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:125617400-125619600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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