Variant report

Variant	rs6470271
Chromosome Location	chr8:125764537-125764538
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125760144..125761703-chr8:125762855..125765412,2	MCF-7	breast:
2	chr8:125760544..125764834-chr8:125765682..125769658,5	MCF-7	breast:
3	chr8:125764175..125766325-chr8:125793674..125795274,2	MCF-7	breast:
4	chr8:125759234..125761898-chr8:125763537..125765246,2	K562	blood:
5	chr8:125603844..125606366-chr8:125762681..125764828,2	MCF-7	breast:
6	chr8:125549640..125552383-chr8:125762856..125765386,2	MCF-7	breast:
7	chr8:125570504..125573139-chr8:125763957..125765886,2	K562	blood:
8	chr8:125739315..125742031-chr8:125763198..125766273,5	MCF-7	breast:
9	chr8:125763897..125765849-chr8:125769752..125772149,2	K562	blood:
10	chr8:125759783..125761940-chr8:125763482..125765437,3	K562	blood:
11	chr8:125763903..125766789-chr8:125789661..125792585,3	MCF-7	breast:

No data

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6470269	1.00[CHB][hapmap];0.85[ASN][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	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
3	nsv517427	chr8:125749707-125766271	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125759800-125764800	Enhancers	Fetal Heart	heart
2	chr8:125760400-125764600	Enhancers	K562	blood
3	chr8:125761400-125766200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:125761600-125772200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:125762600-125764600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:125762600-125765400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:125762800-125764600	Enhancers	Primary B cells from cord blood	blood
8	chr8:125762800-125764600	Enhancers	Left Ventricle	heart
9	chr8:125762800-125764800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:125762800-125765000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:125762800-125765800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:125763000-125764800	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:125763000-125764800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:125763000-125765000	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:125763200-125764800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:125763200-125767400	Weak transcription	Right Atrium	heart
17	chr8:125763400-125764600	Enhancers	Stomach Mucosa	stomach
18	chr8:125763400-125764800	Enhancers	Fetal Muscle Leg	muscle
19	chr8:125763400-125764800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:125763800-125764600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:125763800-125764600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:125763800-125764800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:125763800-125764800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:125763800-125764800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:125763800-125764800	Enhancers	Spleen	Spleen
26	chr8:125763800-125764800	Enhancers	HMEC	breast
27	chr8:125763800-125764800	Enhancers	NHDF-Ad	bronchial
28	chr8:125763800-125765000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:125763800-125765400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:125763800-125767800	Enhancers	HSMMtube	muscle
31	chr8:125764000-125764600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:125764000-125764600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:125764000-125764600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:125764000-125764600	Enhancers	Esophagus	oesophagus
35	chr8:125764000-125764600	Enhancers	Fetal Kidney	kidney
36	chr8:125764000-125764600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr8:125764000-125764600	Enhancers	HepG2	liver
38	chr8:125764000-125764800	Enhancers	Right Ventricle	heart
39	chr8:125764000-125765000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:125764000-125765200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:125764000-125767600	Enhancers	HSMM	muscle
42	chr8:125764200-125764600	Enhancers	Fetal Thymus	thymus
43	chr8:125764200-125764800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:125764200-125764800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr8:125764200-125764800	Enhancers	NHEK	skin
46	chr8:125764200-125765000	Enhancers	NH-A	brain
47	chr8:125764400-125764600	Enhancers	Psoas Muscle	Psoas
48	chr8:125764400-125764600	Flanking Active TSS	Osteobl	bone
49	chr8:125764400-125765000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:125764400-125765000	Enhancers	HUVEC	blood vessel

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