Variant report

Variant	rs2224749
Chromosome Location	chr6:56305457-56305458
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10484787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1323318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1323319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715633	1.00[CHB][hapmap]
rs56199254	1.00[ASN][1000 genomes]
rs6903211	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6915066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917087	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6941846	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73465822	1.00[EUR][1000 genomes]
rs73745839	1.00[ASN][1000 genomes]
rs9475698	1.00[CEU][hapmap];1.00[EUR][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56303200-56309600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:56304200-56314800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:56304400-56307200	Enhancers	Fetal Intestine Large	intestine
4	chr6:56304800-56305600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:56304800-56305600	Enhancers	HMEC	breast
6	chr6:56304800-56305600	Enhancers	NHEK	skin
7	chr6:56304800-56307400	Enhancers	Fetal Intestine Small	intestine
8	chr6:56304800-56309600	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:56305000-56305800	Enhancers	Stomach Mucosa	stomach
10	chr6:56305000-56307400	Enhancers	Liver	Liver
11	chr6:56305200-56305600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:56305200-56305600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:56305200-56305600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:56305200-56305600	Enhancers	Gastric	stomach
15	chr6:56305200-56305800	Enhancers	Stomach Smooth Muscle	stomach
16	chr6:56305200-56306000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:56305200-56306000	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:56305200-56306000	Enhancers	Pancreas	Pancrea
19	chr6:56305400-56306000	Enhancers	K562	blood

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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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