Variant report

Variant	rs12184495
Chromosome Location	chr12:20599454-20599455
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10841528	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10841529	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10841550	0.83[EUR][1000 genomes]
rs10841551	0.82[EUR][1000 genomes]
rs11045253	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11045256	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11045257	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11045259	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11045279	0.83[EUR][1000 genomes]
rs11611895	0.87[AMR][1000 genomes]
rs11611929	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12372360	0.83[EUR][1000 genomes]
rs12815826	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4130514	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7302508	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7484431	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7978217	0.84[CEU][hapmap];0.95[EUR][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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20573800-20599800	Weak transcription	Left Ventricle	heart
2	chr12:20588200-20618400	Weak transcription	Ovary	ovary
3	chr12:20589400-20603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:20592000-20600400	Weak transcription	HUVEC	blood vessel
5	chr12:20592800-20603600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:20596800-20599600	Genic enhancers	Hela-S3	cervix
7	chr12:20596800-20599800	Enhancers	Fetal Intestine Small	intestine
8	chr12:20596800-20600000	Enhancers	Fetal Heart	heart
9	chr12:20597800-20599800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:20597800-20600000	Enhancers	Aorta	Aorta
11	chr12:20598000-20601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:20598000-20601800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:20598000-20602000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:20598000-20602000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:20598000-20602000	Weak transcription	Osteobl	bone
16	chr12:20598000-20602400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:20598200-20600000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:20598200-20600800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:20598200-20601400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:20598200-20603400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:20599000-20600600	Enhancers	Right Atrium	heart
22	chr12:20599000-20601000	Enhancers	Right Ventricle	heart
23	chr12:20599000-20603400	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:20599000-20609600	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:20599200-20599600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr12:20599200-20602400	Weak transcription	NHDF-Ad	bronchial
27	chr12:20599400-20599800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:20599400-20600600	Enhancers	Fetal Intestine Large	intestine
29	chr12:20599400-20600800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:20599400-20601200	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links