Variant report

Variant	rs17050188
Chromosome Location	chr4:119919417-119919418
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	chr4:119910366..119912826-chr4:119918916..119921201,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10004234	1.00[AMR][1000 genomes]
rs10018784	1.00[EUR][1000 genomes]
rs10028761	1.00[EUR][1000 genomes]
rs10518314	1.00[AMR][1000 genomes]
rs11944900	1.00[EUR][1000 genomes]
rs1380164	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1387982	1.00[EUR][1000 genomes]
rs17050178	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17050181	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17050185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17050186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17050190	1.00[EUR][1000 genomes]
rs17050194	1.00[AMR][1000 genomes]
rs17050198	1.00[AMR][1000 genomes]
rs17328771	1.00[EUR][1000 genomes]
rs17839101	1.00[AMR][1000 genomes]
rs28399902	1.00[EUR][1000 genomes]
rs28517711	1.00[EUR][1000 genomes]
rs28649022	1.00[EUR][1000 genomes]
rs28654142	1.00[EUR][1000 genomes]
rs28703229	1.00[EUR][1000 genomes]
rs28711592	1.00[EUR][1000 genomes]
rs56777348	1.00[EUR][1000 genomes]
rs59523444	1.00[EUR][1000 genomes]
rs59546216	1.00[EUR][1000 genomes]
rs59918004	1.00[EUR][1000 genomes]
rs61307436	1.00[EUR][1000 genomes]
rs72907287	1.00[EUR][1000 genomes]
rs72907288	1.00[EUR][1000 genomes]
rs72909247	1.00[EUR][1000 genomes]
rs72909255	1.00[EUR][1000 genomes]
rs72909257	1.00[EUR][1000 genomes]
rs72909259	1.00[EUR][1000 genomes]
rs72909264	1.00[EUR][1000 genomes]
rs72909273	1.00[EUR][1000 genomes]
rs9884217	1.00[EUR][1000 genomes]
rs9884412	1.00[EUR][1000 genomes]
rs9884854	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119908000-119921400	Weak transcription	Small Intestine	intestine
2	chr4:119910400-119931000	Weak transcription	Right Atrium	heart
3	chr4:119913400-119923000	Enhancers	Colon Smooth Muscle	Colon
4	chr4:119914200-119920200	Weak transcription	Psoas Muscle	Psoas
5	chr4:119914200-119921000	Weak transcription	Right Ventricle	heart
6	chr4:119915600-119920000	Weak transcription	Fetal Stomach	stomach
7	chr4:119915600-119921000	Weak transcription	Ovary	ovary
8	chr4:119915800-119921400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:119917600-119931000	Weak transcription	Aorta	Aorta
10	chr4:119917600-119932200	Weak transcription	Left Ventricle	heart
11	chr4:119918200-119920800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:119918200-119922800	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:119918400-119919800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:119918400-119919800	Enhancers	Fetal Heart	heart
15	chr4:119918600-119919600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:119918600-119919600	Enhancers	Osteobl	bone
17	chr4:119918600-119921000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:119918800-119921200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:119919000-119919800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr4:119919000-119921200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:119919000-119921200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:119919200-119920800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:119919200-119921000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:119919200-119921200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:119919200-119921200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:119919200-119921400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:119919400-119921000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:119919400-119921200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:119919400-119921200	Weak transcription	HSMMtube	muscle
30	chr4:119919400-119921200	Weak transcription	NHDF-Ad	bronchial
31	chr4:119919400-119921600	Weak transcription	NHLF	lung
32	chr4:119919400-119925000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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