Variant report

Variant	rs12347676
Chromosome Location	chr9:92929121-92929122
allele	C/T
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:10)

rs_ID	r²[population]
rs12345029	0.82[EUR][1000 genomes]
rs12347673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12349074	0.82[EUR][1000 genomes]
rs12350417	0.82[EUR][1000 genomes]
rs28495955	0.85[AFR][1000 genomes]
rs28741023	0.87[AFR][1000 genomes]
rs437997	0.82[EUR][1000 genomes]
rs57580557	0.88[AFR][1000 genomes]
rs7043047	0.98[AFR][1000 genomes]
rs73490448	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614852	chr9:92786722-93100550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv893563	chr9:92816727-92967125	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1051180	chr9:92869383-93141038	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv540169	chr9:92869383-93141038	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv482531	chr9:92907692-93096360	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr9:92925200-92933200	Weak transcription	Esophagus	oesophagus
2	chr9:92925400-92930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:92925600-92930000	Weak transcription	Stomach Mucosa	stomach
4	chr9:92927200-92930000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:92927600-92930600	Enhancers	Pancreas	Pancrea
6	chr9:92927600-92931400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr9:92927800-92931200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr9:92928000-92930000	Weak transcription	Fetal Lung	lung
9	chr9:92928000-92931400	Enhancers	Duodenum Mucosa	Duodenum
10	chr9:92928200-92930000	Weak transcription	Fetal Intestine Large	intestine
11	chr9:92928400-92929400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:92928600-92929200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:92928600-92929400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:92928800-92929200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:92928800-92929400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:92929000-92929200	Enhancers	Colonic Mucosa	Colon
17	chr9:92929000-92929600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:92929000-92930000	Weak transcription	Small Intestine	intestine

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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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