Variant report

Variant	rs12648757
Chromosome Location	chr4:111027405-111027406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111026921..111029584-chr4:111032087..111034915,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11731407	0.82[ASN][1000 genomes]
rs11731449	1.00[ASN][1000 genomes]
rs6533491	0.98[ASN][1000 genomes]
rs6838079	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
2	chr4:111010000-111027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:111010000-111028000	Weak transcription	HepG2	liver
4	chr4:111011000-111040200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:111012800-111027800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:111013000-111040400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:111013600-111027600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:111013600-111027600	Weak transcription	NHLF	lung
9	chr4:111013600-111040400	Weak transcription	Fetal Kidney	kidney
10	chr4:111019000-111027800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:111020600-111028600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:111022000-111028000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:111022800-111027800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:111023400-111027600	Weak transcription	Hela-S3	cervix
15	chr4:111023400-111029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:111023600-111027600	Weak transcription	A549	lung
17	chr4:111023600-111027800	Weak transcription	Pancreas	Pancrea
18	chr4:111023800-111037000	Weak transcription	Primary T cells from cord blood	blood
19	chr4:111024200-111049800	Weak transcription	Fetal Stomach	stomach
20	chr4:111025000-111027600	Weak transcription	Small Intestine	intestine
21	chr4:111025800-111028000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:111026000-111027800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:111026000-111061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:111026200-111027600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:111026200-111027600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:111026200-111027800	Weak transcription	Aorta	Aorta
27	chr4:111026200-111028400	Enhancers	Brain Germinal Matrix	brain
28	chr4:111026400-111027600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:111026400-111027600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:111026400-111027600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:111026400-111027800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:111026400-111027800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:111026400-111027800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:111026400-111027800	Weak transcription	HSMM	muscle
35	chr4:111026400-111037400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:111026400-111041200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:111026400-111046000	Weak transcription	Left Ventricle	heart
38	chr4:111026400-111049200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:111026600-111027600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:111026600-111027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:111026600-111027600	Weak transcription	NHDF-Ad	bronchial
42	chr4:111026600-111027600	Weak transcription	NHEK	skin
43	chr4:111026600-111027800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:111026600-111027800	Weak transcription	Liver	Liver
45	chr4:111026600-111027800	Weak transcription	HSMMtube	muscle
46	chr4:111026600-111028000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:111026600-111034000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:111026600-111040000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:111026600-111040000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:111026600-111040000	Weak transcription	Dnd41	blood

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