Variant report

Variant	rs17050193
Chromosome Location	chr4:119906587-119906588
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119903981..119906939-chr4:119947642..119950040,2	MCF-7	breast:
2	chr4:119905616..119908043-chr4:120213868..120216541,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10434026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10434027	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13108576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13111284	0.82[ASN][1000 genomes]
rs17050208	0.81[ASN][1000 genomes]
rs34340576	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36116256	0.82[ASN][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119896400-119907600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:119901400-119907000	Enhancers	Psoas Muscle	Psoas
3	chr4:119901400-119911600	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:119902600-119907000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:119903000-119909800	Weak transcription	Fetal Stomach	stomach
6	chr4:119903000-119910200	Enhancers	Colon Smooth Muscle	Colon
7	chr4:119903800-119909800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:119904000-119909400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:119904200-119908000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:119904200-119909200	Weak transcription	NHLF	lung
11	chr4:119904200-119909400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:119904200-119909600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:119904600-119906600	Enhancers	Adipose Nuclei	Adipose
14	chr4:119904600-119908600	Weak transcription	NHDF-Ad	bronchial
15	chr4:119904600-119908800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:119904600-119909400	Weak transcription	HSMM	muscle
17	chr4:119904600-119909400	Weak transcription	Osteobl	bone
18	chr4:119904600-119909800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:119904800-119907000	Enhancers	Right Ventricle	heart
20	chr4:119904800-119907000	Enhancers	HSMMtube	muscle
21	chr4:119904800-119909400	Weak transcription	HMEC	breast
22	chr4:119904800-119909600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:119904800-119909800	Weak transcription	NH-A	brain
24	chr4:119905400-119908000	Weak transcription	Ovary	ovary
25	chr4:119905600-119907000	Enhancers	Fetal Muscle Leg	muscle
26	chr4:119905600-119907000	Enhancers	Left Ventricle	heart
27	chr4:119905600-119907000	Enhancers	Right Atrium	heart
28	chr4:119905800-119907000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:119905800-119907000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr4:119905800-119908200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:119906000-119908400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:119906200-119910200	Weak transcription	Fetal Heart	heart
33	chr4:119906400-119907000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:119906400-119907000	Enhancers	Esophagus	oesophagus
35	chr4:119906400-119907000	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr4:119906400-119907200	Genic enhancers	Aorta	Aorta

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