Variant report

Variant	rs11942620
Chromosome Location	chr4:148446738-148446739
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	chr4:148438170..148441036-chr4:148443723..148446840,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10305908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305915	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11940834	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943746	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv880241	chr4:148411178-148461073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148414400-148447400	Weak transcription	Fetal Stomach	stomach
2	chr4:148432200-148472600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:148434200-148462600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:148434400-148447400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:148436800-148447400	Weak transcription	Right Ventricle	heart
6	chr4:148437600-148447000	Weak transcription	Ovary	ovary
7	chr4:148437600-148447400	Weak transcription	Left Ventricle	heart
8	chr4:148439800-148447200	Weak transcription	Aorta	Aorta
9	chr4:148440200-148451800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:148440400-148463400	Weak transcription	NH-A	brain
11	chr4:148440600-148455000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:148440600-148466800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:148444200-148455000	Weak transcription	Right Atrium	heart
14	chr4:148444400-148463400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:148445000-148447200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:148445400-148447600	Enhancers	Hela-S3	cervix
17	chr4:148445600-148450000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:148445800-148446800	Weak transcription	Fetal Heart	heart
19	chr4:148445800-148447600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:148446000-148447000	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:148446000-148447400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:148446400-148447400	Enhancers	Adipose Nuclei	Adipose
23	chr4:148446400-148447400	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:148446600-148447000	Weak transcription	Brain Substantia Nigra	brain
25	chr4:148446600-148447400	Enhancers	Fetal Lung	lung

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