Variant report

Variant	rs2151412
Chromosome Location	chr9:71343194-71343195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71341357..71343787-chr9:71348342..71350761,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10869245	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2151416	0.85[ASN][1000 genomes]
rs2151418	0.87[ASN][1000 genomes]
rs4352908	0.88[ASN][1000 genomes]
rs4534183	0.88[ASN][1000 genomes]
rs4744683	0.88[ASN][1000 genomes]
rs4745223	0.89[ASN][1000 genomes]
rs4745227	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4745229	0.91[ASN][1000 genomes]
rs7853748	0.89[ASN][1000 genomes]
rs7857057	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv2757339	chr9:71291107-71353743	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759693	chr9:71291107-71353743	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr9:71322000-71349400	Weak transcription	Aorta	Aorta
2	chr9:71324400-71346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:71334000-71345600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:71335000-71345000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:71335200-71346200	Weak transcription	Small Intestine	intestine
6	chr9:71336600-71346400	Weak transcription	Left Ventricle	heart
7	chr9:71337000-71350600	Weak transcription	Gastric	stomach
8	chr9:71339800-71343800	Enhancers	Fetal Heart	heart
9	chr9:71341600-71343400	Weak transcription	HepG2	liver
10	chr9:71342600-71343400	Strong transcription	GM12878-XiMat	blood
11	chr9:71342600-71343600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr9:71342600-71343800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr9:71342600-71344600	Strong transcription	Primary hematopoietic stem cells	blood
14	chr9:71342600-71345800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr9:71342600-71347400	Strong transcription	Primary B cells from cord blood	blood
16	chr9:71342600-71354600	Enhancers	Fetal Intestine Large	intestine
17	chr9:71342800-71343200	Weak transcription	Fetal Intestine Small	intestine
18	chr9:71343000-71343200	Enhancers	Right Atrium	heart
19	chr9:71343000-71343600	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:71343000-71343800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:71343000-71346000	Weak transcription	K562	blood

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