Variant report

Variant	rs2368447
Chromosome Location	chr2:184408372-184408373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166704	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10176963	0.89[EUR][1000 genomes]
rs11892191	0.87[EUR][1000 genomes]
rs11895091	0.90[EUR][1000 genomes]
rs13415423	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13426853	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16824762	0.90[EUR][1000 genomes]
rs56045031	0.89[EUR][1000 genomes]
rs58789956	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60041469	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6712313	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72890255	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7584434	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7600207	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

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	nsv1012672	chr2:184363204-184571778	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2757843	chr2:184368473-184558908	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759105	chr2:184368473-184558908	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv428729	chr2:184368473-184558908	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 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	chr2:184402000-184416800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:184405800-184411200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:184406000-184409200	Enhancers	Fetal Intestine Small	intestine
4	chr2:184406400-184409200	Enhancers	Fetal Intestine Large	intestine
5	chr2:184406600-184408600	Weak transcription	Pancreas	Pancrea
6	chr2:184406800-184408600	Enhancers	HepG2	liver
7	chr2:184407800-184408400	Active TSS	Colonic Mucosa	Colon
8	chr2:184407800-184408400	Active TSS	Rectal Smooth Muscle	rectum
9	chr2:184407800-184408600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr2:184408000-184408400	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr2:184408000-184409000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:184408000-184409200	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:184408200-184408400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr2:184408200-184408600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:184408200-184408600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr2:184408200-184409000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:184408200-184409200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:184408200-184409200	Enhancers	GM12878-XiMat	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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