Variant report

Variant	rs6844490
Chromosome Location	chr4:90049404-90049405
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90033016..90036136-chr4:90045912..90049753,4	K562	blood:
2	chr4:90043393..90046238-chr4:90047056..90051826,4	K562	blood:

Variant related genes	Relation type
ENSG00000180346	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11097215	0.89[JPT][hapmap]
rs1458558	0.89[JPT][hapmap]
rs1533291	0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1708661	0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1708674	0.89[JPT][hapmap]
rs1708678	0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1708684	0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1795721	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1795731	0.89[JPT][hapmap]
rs1795732	0.89[JPT][hapmap]
rs1795733	0.94[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2037036	0.88[ASW][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.93[LWK][hapmap];0.89[AFR][1000 genomes]
rs2037037	0.89[JPT][hapmap];0.89[AFR][1000 genomes]
rs2458545	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2670624	0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2670625	0.89[JPT][hapmap]
rs2670626	0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2670629	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2670630	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2869987	0.89[JPT][hapmap]
rs6532094	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7440590	0.89[JPT][hapmap]
rs7691983	0.89[JPT][hapmap]
rs938268	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90033600-90052200	Weak transcription	Aorta	Aorta
2	chr4:90042600-90049600	Enhancers	Fetal Intestine Small	intestine
3	chr4:90043400-90050200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:90044800-90056000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:90046000-90056200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:90047600-90055800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:90047800-90050200	Weak transcription	HepG2	liver
8	chr4:90049000-90050600	Enhancers	A549	lung
9	chr4:90049200-90049600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:90049200-90049600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:90049200-90049600	Enhancers	Gastric	stomach
12	chr4:90049200-90049800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:90049400-90049600	Bivalent/Poised TSS	Small Intestine	intestine
14	chr4:90049400-90050000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:90049400-90051200	Enhancers	NHLF	lung

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