Variant report

Variant	rs72914446
Chromosome Location	chr4:120236185-120236186
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120234842..120237819-chr4:120239424..120241485,2	K562	blood:
2	chr4:120234892..120236203-chr4:120548295..120548927,3	K562	blood:

Variant related genes	Relation type
ENSG00000138735	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10012406	0.85[AFR][1000 genomes]
rs28510336	0.85[AFR][1000 genomes]
rs28619175	0.85[AFR][1000 genomes]
rs57469640	0.85[AFR][1000 genomes]
rs58691470	0.85[AFR][1000 genomes]
rs61015090	0.93[AFR][1000 genomes]
rs72914498	0.85[AFR][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	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	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879840	chr4:120227419-120257417	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120222000-120251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:120222200-120244600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:120222400-120240800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:120222800-120240800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:120225000-120238800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:120228200-120238600	Weak transcription	Fetal Intestine Large	intestine
7	chr4:120229200-120238400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:120234000-120236800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr4:120234200-120237600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:120235000-120239400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:120235200-120237200	Enhancers	Osteobl	bone
12	chr4:120235400-120238000	Enhancers	NHDF-Ad	bronchial
13	chr4:120235600-120251000	Weak transcription	Left Ventricle	heart
14	chr4:120235800-120236200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:120235800-120236400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:120235800-120236600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:120235800-120236600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:120235800-120237000	Enhancers	NHLF	lung
19	chr4:120235800-120237200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:120235800-120237200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:120235800-120241800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:120236000-120236400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:120236000-120236400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:120236000-120237000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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