Variant report

Variant	rs6853639
Chromosome Location	chr4:53875867-53875868
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	chr4:53875015..53876837-chr4:53878881..53881020,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10010254	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11133240	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13104612	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13120717	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13123449	0.93[EUR][1000 genomes]
rs1319626	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1384695	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1531836	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2170689	0.97[EUR][1000 genomes]
rs2898683	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs301089	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs301110	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs301112	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34704735	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3849652	0.80[EUR][1000 genomes]
rs403536	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6554062	0.97[EUR][1000 genomes]
rs6554063	0.94[EUR][1000 genomes]
rs6831230	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844522	0.82[EUR][1000 genomes]
rs7685087	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7689426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs958693	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53863400-53877800	Weak transcription	Gastric	stomach
2	chr4:53863400-53878000	Weak transcription	NH-A	brain
3	chr4:53863400-53878200	Weak transcription	Fetal Intestine Small	intestine
4	chr4:53863800-53876600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:53864000-53877800	Weak transcription	NHDF-Ad	bronchial
6	chr4:53864400-53877000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:53864400-53877600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:53864600-53876000	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:53864600-53876600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:53865000-53876000	Weak transcription	Right Atrium	heart
11	chr4:53865600-53876800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:53870600-53878200	Weak transcription	HSMM	muscle
13	chr4:53870800-53877600	Weak transcription	Osteobl	bone
14	chr4:53870800-53877800	Weak transcription	HSMMtube	muscle
15	chr4:53870800-53880200	Weak transcription	Esophagus	oesophagus
16	chr4:53871000-53876400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:53871800-53876200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:53872400-53876000	Weak transcription	Liver	Liver
19	chr4:53873000-53876000	Weak transcription	Right Ventricle	heart
20	chr4:53873000-53876400	Weak transcription	Fetal Heart	heart
21	chr4:53873200-53877800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:53873200-53877800	Weak transcription	Psoas Muscle	Psoas
23	chr4:53873200-53877800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:53873200-53880200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:53873400-53876000	Weak transcription	Pancreas	Pancrea
26	chr4:53873400-53876600	Weak transcription	Lung	lung
27	chr4:53873400-53886800	Weak transcription	Left Ventricle	heart
28	chr4:53873600-53876000	Weak transcription	Fetal Thymus	thymus
29	chr4:53873800-53877600	Weak transcription	Dnd41	blood
30	chr4:53874000-53877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:53874000-53879800	Enhancers	Fetal Lung	lung
32	chr4:53874000-53882200	Enhancers	Fetal Kidney	kidney
33	chr4:53874200-53879200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:53874400-53876800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:53874600-53885000	Weak transcription	Spleen	Spleen
36	chr4:53874800-53876000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:53875400-53877400	Enhancers	Primary T cells from cord blood	blood
38	chr4:53875600-53881400	Weak transcription	HepG2	liver
39	chr4:53875800-53876000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr4:53875800-53876000	Enhancers	Small Intestine	intestine
41	chr4:53875800-53876600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:53875800-53877400	Enhancers	Ovary	ovary
43	chr4:53875800-53877600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:53875800-53878400	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:53875800-53878600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr4:53875800-53882200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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