Variant report

Variant	rs6831924
Chromosome Location	chr4:120002739-120002740
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11098478	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1119909	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729503	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732628	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11734941	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12509365	0.92[AFR][1000 genomes]
rs13101656	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964519	0.84[AFR][1000 genomes]
rs35781568	0.92[AFR][1000 genomes]
rs4472122	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4834739	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4834740	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670862	0.94[ASN][1000 genomes]
rs985875	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119975800-120003000	Weak transcription	Left Ventricle	heart
2	chr4:120001200-120003200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:120001200-120003400	Enhancers	Stomach Mucosa	stomach
4	chr4:120001200-120004000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr4:120001600-120002800	Enhancers	Placenta	Placenta
6	chr4:120002000-120003200	Enhancers	Duodenum Mucosa	Duodenum
7	chr4:120002000-120007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:120002200-120004000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:120002200-120004200	Enhancers	Fetal Heart	heart
10	chr4:120002400-120002800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:120002400-120002800	Enhancers	Fetal Intestine Small	intestine
12	chr4:120002400-120002800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:120002400-120002800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:120002400-120002800	Enhancers	NH-A	brain
15	chr4:120002400-120003200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:120002400-120003400	Flanking Active TSS	A549	lung
17	chr4:120002400-120003600	Enhancers	Fetal Intestine Large	intestine
18	chr4:120002600-120004200	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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