Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16141136..16143895-chr4:16177471..16179096,2	K562	blood:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28567045	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234606	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16128200-16142600	Weak transcription	Right Atrium	heart
2	chr4:16136400-16144600	Enhancers	Fetal Muscle Leg	muscle
3	chr4:16137400-16144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:16139200-16143200	Weak transcription	Placenta	Placenta
5	chr4:16140400-16141800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr4:16140400-16144000	Enhancers	Stomach Mucosa	stomach
7	chr4:16140600-16142200	Enhancers	Fetal Muscle Trunk	muscle
8	chr4:16140600-16143800	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:16140800-16142400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:16140800-16142400	Enhancers	Colonic Mucosa	Colon
11	chr4:16141000-16142600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr4:16141000-16144000	Enhancers	Hela-S3	cervix
13	chr4:16141000-16144600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:16141000-16144600	Enhancers	Fetal Intestine Small	intestine
15	chr4:16141000-16144800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr4:16141200-16141800	Enhancers	Fetal Heart	heart
17	chr4:16141200-16143400	Enhancers	Small Intestine	intestine
18	chr4:16141200-16143600	Enhancers	NH-A	brain
19	chr4:16141200-16144800	Enhancers	HepG2	liver
20	chr4:16141400-16142000	Weak transcription	Pancreas	Pancrea
21	chr4:16141400-16142800	Enhancers	Fetal Stomach	stomach
22	chr4:16141400-16143400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:16141400-16144600	Enhancers	Fetal Intestine Large	intestine

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