Variant report

Variant	rs28472535
Chromosome Location	chr4:53810041-53810042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr4:53809940-53810174	K562	blood:	n/a	chr4:53810073-53810087 chr4:53810072-53810087 chr4:53810073-53810088 chr4:53810019-53810040 chr4:53810024-53810038 chr4:53810071-53810092 chr4:53810076-53810085 chr4:53810023-53810038 chr4:53810072-53810087 chr4:53810019-53810040 chr4:53810071-53810092 chr4:53810075-53810086
2	MAX	chr4:53810004-53810082	NB4	blood:	n/a	chr4:53810058-53810068

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53807613..53810366-chr4:53813380..53815207,2	K562	blood:

Variant related genes	Relation type
ENSG00000248115	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10004829	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014061	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014144	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030623	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034233	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10049923	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331609	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167293	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17698672	0.83[ASN][1000 genomes]
rs2086727	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2200225	0.83[ASN][1000 genomes]
rs28432778	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454037	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28491101	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28508082	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28564509	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28610009	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615713	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28678012	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690295	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28786135	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930104	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930105	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301096	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301098	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301103	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301104	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301113	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301114	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301116	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443054	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458513	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833350	0.83[ASN][1000 genomes]
rs6855240	0.83[ASN][1000 genomes]
rs7658319	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677726	0.83[ASN][1000 genomes]
rs7680614	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996166	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9998405	0.94[EUR][1000 genomes];1.00[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	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53734600-53822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:53768800-53815600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:53786600-53861400	Weak transcription	Primary B cells from cord blood	blood
4	chr4:53798200-53812200	Weak transcription	Fetal Brain Female	brain
5	chr4:53799600-53820200	Weak transcription	Fetal Stomach	stomach
6	chr4:53800200-53815600	Weak transcription	Primary T cells from cord blood	blood
7	chr4:53800200-53816600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:53800400-53823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:53801400-53819000	Weak transcription	Fetal Intestine Large	intestine
10	chr4:53805800-53817000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:53806200-53822400	Weak transcription	NHDF-Ad	bronchial
12	chr4:53806400-53815600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:53806400-53816000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:53806400-53816400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:53806400-53818800	Weak transcription	Fetal Intestine Small	intestine
16	chr4:53806400-53820200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:53806600-53810600	Enhancers	Fetal Heart	heart
18	chr4:53806600-53815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:53806600-53815800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:53806600-53820200	Weak transcription	Pancreas	Pancrea
21	chr4:53807000-53815800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:53808600-53828000	Weak transcription	Right Atrium	heart
23	chr4:53808800-53813000	Weak transcription	Left Ventricle	heart
24	chr4:53808800-53836000	Weak transcription	Esophagus	oesophagus
25	chr4:53809200-53810200	Enhancers	HSMMtube	muscle
26	chr4:53809600-53810200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr4:53809800-53810200	Enhancers	HSMM	muscle
28	chr4:53809800-53810600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:53810000-53811600	Weak transcription	Fetal Lung	lung
30	chr4:53810000-53811800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:53810000-53813000	Weak transcription	Ovary	ovary
32	chr4:53810000-53813000	Weak transcription	Psoas Muscle	Psoas
33	chr4:53810000-53813400	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:53810000-53822400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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