Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119843217..119845553-chr4:119847807..119850128,2	K562	blood:

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10002822	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726903	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12648221	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549533	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2114462	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172013	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4611911	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs736965	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs754397	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs875229	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955606	0.84[ASN][1000 genomes]
rs957776	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119831600-119847200	Weak transcription	Right Atrium	heart
2	chr4:119833000-119845600	Weak transcription	Aorta	Aorta
3	chr4:119838200-119851600	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:119839800-119847200	Weak transcription	Small Intestine	intestine
5	chr4:119840000-119845000	Weak transcription	NHEK	skin
6	chr4:119841000-119858400	Weak transcription	Psoas Muscle	Psoas
7	chr4:119841400-119845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:119841600-119844800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:119841600-119844800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:119842400-119845600	Weak transcription	Left Ventricle	heart
11	chr4:119842600-119861800	Weak transcription	Right Ventricle	heart
12	chr4:119843400-119845200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:119843400-119846000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:119843400-119848600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:119843600-119845600	Weak transcription	Fetal Stomach	stomach
16	chr4:119843800-119844800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:119843800-119845800	Weak transcription	Fetal Kidney	kidney
18	chr4:119844000-119845000	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:119844000-119847400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:119844200-119848400	Enhancers	Ovary	ovary

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