Variant report

Variant	rs17050152
Chromosome Location	chr4:119948059-119948060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119947447..119949385-chr4:119952069..119954323,2	K562	blood:
2	chr4:119903981..119906939-chr4:119947642..119950040,2	MCF-7	breast:
3	chr4:119947641..119949171-chr4:119953540..119955900,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13435629	0.86[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119938600-119948200	Weak transcription	Fetal Stomach	stomach
2	chr4:119941800-119961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:119944800-119949200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:119946200-119948200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:119946200-119948400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:119946400-119948600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:119946400-119949800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:119946400-119949800	Active TSS	A549	lung
9	chr4:119946600-119948200	Flanking Active TSS	HSMM	muscle
10	chr4:119946600-119948200	Flanking Active TSS	Osteobl	bone
11	chr4:119946600-119949200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr4:119946600-119951000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr4:119946800-119948600	Enhancers	Fetal Lung	lung
14	chr4:119946800-119951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:119946800-119957000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:119947000-119948600	Enhancers	Placenta	Placenta
17	chr4:119947000-119952200	Weak transcription	Brain Angular Gyrus	brain
18	chr4:119947200-119948200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr4:119947200-119949800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:119947200-119959800	Weak transcription	Brain Anterior Caudate	brain
21	chr4:119947400-119948200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:119947400-119948200	Enhancers	HMEC	breast
23	chr4:119947400-119948600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:119947400-119948600	Enhancers	Hela-S3	cervix
25	chr4:119947400-119949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:119947400-119951000	Active TSS	HSMMtube	muscle
27	chr4:119947400-119951200	Weak transcription	Fetal Kidney	kidney
28	chr4:119947400-119955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:119947400-119955600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:119947600-119948200	Enhancers	GM12878-XiMat	blood
31	chr4:119947600-119951000	Active TSS	Rectal Smooth Muscle	rectum
32	chr4:119947600-119951200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr4:119947800-119948200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:119947800-119948200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:119947800-119948200	Active TSS	Brain Hippocampus Middle	brain
36	chr4:119947800-119948200	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr4:119947800-119948200	Flanking Active TSS	Left Ventricle	heart
38	chr4:119947800-119948200	Enhancers	Lung	lung
39	chr4:119947800-119948200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr4:119947800-119948400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr4:119947800-119948400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr4:119947800-119948600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr4:119947800-119948600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr4:119947800-119948600	Flanking Active TSS	NHLF	lung
45	chr4:119947800-119948800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr4:119947800-119948800	Genic enhancers	Aorta	Aorta
47	chr4:119947800-119949800	Active TSS	Psoas Muscle	Psoas
48	chr4:119947800-119951000	Active TSS	Colon Smooth Muscle	Colon
49	chr4:119947800-119954400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:119948000-119948200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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