Variant report

Variant	rs90020
Chromosome Location	chr4:53806311-53806312
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	chr4:53804313..53807081-chr4:53819512..53821040,2	K562	blood:
2	chr4:53795070..53797861-chr4:53805518..53809319,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs301095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs301097	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs301115	0.85[ASW][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs301118	0.94[AFR][1000 genomes]
rs301121	0.98[AFR][1000 genomes]
rs301123	0.92[ASW][hapmap];0.95[LWK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs301125	0.94[AFR][1000 genomes]
rs301126	0.92[LWK][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs301131	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs301135	0.88[YRI][hapmap]
rs448567	0.96[YRI][hapmap]

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	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53729200-53807800	Weak transcription	Esophagus	oesophagus
2	chr4:53734600-53822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:53768800-53815600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:53786600-53861400	Weak transcription	Primary B cells from cord blood	blood
5	chr4:53796400-53809800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:53797600-53808400	Weak transcription	Ovary	ovary
7	chr4:53798200-53812200	Weak transcription	Fetal Brain Female	brain
8	chr4:53799600-53809800	Weak transcription	HSMM	muscle
9	chr4:53799600-53820200	Weak transcription	Fetal Stomach	stomach
10	chr4:53800200-53815600	Weak transcription	Primary T cells from cord blood	blood
11	chr4:53800200-53816600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:53800400-53823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:53800800-53809800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:53801400-53819000	Weak transcription	Fetal Intestine Large	intestine
15	chr4:53805000-53807200	Enhancers	Fetal Muscle Leg	muscle
16	chr4:53805600-53806400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:53805600-53806800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:53805600-53807000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:53805800-53806600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:53805800-53807000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:53805800-53817000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:53806000-53806400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:53806000-53806400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:53806000-53806400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:53806000-53806400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:53806000-53806400	Enhancers	Fetal Intestine Small	intestine
27	chr4:53806000-53806400	Enhancers	Fetal Muscle Trunk	muscle
28	chr4:53806000-53806400	Enhancers	Gastric	stomach
29	chr4:53806000-53806400	Enhancers	Right Ventricle	heart
30	chr4:53806000-53806600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:53806000-53806600	Enhancers	Left Ventricle	heart
32	chr4:53806000-53806600	Enhancers	Pancreas	Pancrea
33	chr4:53806000-53806600	Enhancers	Psoas Muscle	Psoas
34	chr4:53806000-53806800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:53806000-53806800	Enhancers	HSMMtube	muscle
36	chr4:53806000-53807000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr4:53806200-53806400	Enhancers	Fetal Heart	heart
38	chr4:53806200-53806600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:53806200-53806600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:53806200-53806600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:53806200-53822400	Weak transcription	NHDF-Ad	bronchial

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