Variant report

Variant	rs2061444
Chromosome Location	chr4:119914779-119914780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119909022..119910649-chr4:119913950..119916775,2	MCF-7	breast:
2	chr4:119914777..119916638-chr4:120132752..120135284,2	K562	blood:

Variant related genes	Relation type
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10028761	1.00[AMR][1000 genomes]
rs1387982	1.00[AMR][1000 genomes]
rs28399902	1.00[AMR][1000 genomes]
rs28517711	1.00[AMR][1000 genomes]
rs28649022	1.00[AMR][1000 genomes]
rs28654142	1.00[AMR][1000 genomes]
rs28703229	1.00[AMR][1000 genomes]
rs59918004	1.00[AMR][1000 genomes]
rs61307436	1.00[AMR][1000 genomes]
rs72908515	1.00[AMR][1000 genomes]
rs72909247	1.00[AMR][1000 genomes]
rs72909255	1.00[AMR][1000 genomes]
rs72909257	1.00[AMR][1000 genomes]
rs72909259	1.00[AMR][1000 genomes]
rs72909264	1.00[AMR][1000 genomes]
rs72909273	1.00[AMR][1000 genomes]
rs72914838	1.00[AMR][1000 genomes]
rs9307466	1.00[AFR][1000 genomes];1.00[AMR][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:26 , 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	chr4:119910600-119915000	Weak transcription	Fetal Stomach	stomach
4	chr4:119911200-119917800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr4:119911400-119918600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:119911600-119915000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:119911800-119915000	Weak transcription	HSMMtube	muscle
8	chr4:119912400-119914800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:119912400-119915600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:119912600-119917800	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:119912800-119915600	Enhancers	Ovary	ovary
12	chr4:119913200-119915200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:119913200-119915600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:119913200-119917200	Weak transcription	Aorta	Aorta
15	chr4:119913400-119923000	Enhancers	Colon Smooth Muscle	Colon
16	chr4:119913600-119918600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:119913600-119918800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:119914200-119915000	Weak transcription	Left Ventricle	heart
19	chr4:119914200-119918600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:119914200-119920200	Weak transcription	Psoas Muscle	Psoas
21	chr4:119914200-119921000	Weak transcription	Right Ventricle	heart
22	chr4:119914400-119918800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:119914600-119915400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr4:119914600-119915600	Enhancers	NHLF	lung
25	chr4:119914600-119916400	Enhancers	HSMM	muscle
26	chr4:119914600-119916400	Enhancers	NHDF-Ad	bronchial

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