Variant report

Variant	rs12617364
Chromosome Location	chr2:179921758-179921759
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10173853	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10176828	1.00[AMR][1000 genomes]
rs10178559	1.00[AMR][1000 genomes]
rs10186707	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10205588	1.00[AMR][1000 genomes]
rs10207754	1.00[AMR][1000 genomes]
rs10208882	1.00[AMR][1000 genomes]
rs10221811	1.00[AMR][1000 genomes]
rs12328593	1.00[AMR][1000 genomes]
rs12611473	1.00[AMR][1000 genomes]
rs12612427	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12613089	1.00[AMR][1000 genomes]
rs12616452	1.00[AMR][1000 genomes]
rs12622434	1.00[AMR][1000 genomes]
rs13382573	1.00[AMR][1000 genomes]
rs13391187	1.00[AMR][1000 genomes]
rs13395559	1.00[AMR][1000 genomes]
rs13412820	1.00[AMR][1000 genomes]
rs13422693	1.00[AMR][1000 genomes]
rs13429191	1.00[AMR][1000 genomes]
rs16866630	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28508327	1.00[AMR][1000 genomes]
rs6734127	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6755474	1.00[ASN][1000 genomes]
rs7581898	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7588135	1.00[AMR][1000 genomes]
rs7601965	1.00[AMR][1000 genomes]
rs9288024	1.00[AMR][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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179915200-179923000	Weak transcription	Right Atrium	heart
2	chr2:179916200-179922000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:179916200-179922400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:179916400-179921800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:179916400-179922200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:179916400-179922600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:179916400-179922600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:179916400-179922600	Weak transcription	Right Ventricle	heart
9	chr2:179916400-179922800	Weak transcription	Gastric	stomach
10	chr2:179916400-179923000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:179917000-179922200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:179917000-179922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:179917000-179922800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:179917400-179922400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:179917400-179922800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:179917400-179922800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:179918000-179921800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:179918200-179922400	Weak transcription	Fetal Heart	heart
19	chr2:179918400-179922000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:179918600-179922200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:179918600-179923000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:179921400-179921800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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