Variant report

Variant	rs7493691
Chromosome Location	chr14:31739359-31739360
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	chr14:31732131..31735050-chr14:31739245..31741338,2	K562	blood:
2	chr14:31731560..31733729-chr14:31736950..31739890,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10872849	0.90[ASN][1000 genomes]
rs11156660	0.89[ASN][1000 genomes]
rs11156661	0.89[ASN][1000 genomes]
rs11847084	1.00[EUR][1000 genomes]
rs11847145	0.93[EUR][1000 genomes]
rs12588620	0.90[ASN][1000 genomes]
rs1812760	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2093615	1.00[EUR][1000 genomes]
rs2378848	0.89[ASN][1000 genomes]
rs7146274	0.90[ASN][1000 genomes]
rs7147686	0.91[ASN][1000 genomes]
rs7156178	0.89[ASN][1000 genomes]
rs72642554	1.00[EUR][1000 genomes]
rs72642555	1.00[EUR][1000 genomes]
rs72642556	1.00[EUR][1000 genomes]
rs727675	0.91[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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31733400-31739400	Weak transcription	Esophagus	oesophagus
2	chr14:31735400-31739600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:31735400-31743200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:31735400-31743400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:31735600-31743400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:31735800-31740400	Weak transcription	HMEC	breast
7	chr14:31736400-31740000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:31736600-31739600	Enhancers	NHDF-Ad	bronchial
9	chr14:31736600-31740000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:31737600-31739400	Enhancers	NHLF	lung
11	chr14:31737600-31739600	Weak transcription	HSMMtube	muscle
12	chr14:31738200-31739800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:31738600-31739800	Enhancers	HUVEC	blood vessel
14	chr14:31738600-31740000	Enhancers	Stomach Mucosa	stomach
15	chr14:31738800-31740200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:31738800-31741600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:31739000-31740000	ZNF genes & repeats	Liver	Liver
18	chr14:31739000-31740000	ZNF genes & repeats	HepG2	liver
19	chr14:31739200-31740000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:31739200-31742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:31739200-31743200	Weak transcription	Osteobl	bone

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