Variant report

Variant	rs7486077
Chromosome Location	chr12:20600490-20600491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10047559	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10770660	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10770661	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10770663	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs10841530	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10841531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841532	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10841533	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10841535	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10841539	0.96[CEU][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10841540	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10841541	0.96[CEU][hapmap];0.84[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10841542	0.96[CEU][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10841544	0.91[CEU][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10841546	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10841549	0.83[CEU][hapmap]
rs10841553	0.83[CEU][hapmap]
rs11045245	0.81[JPT][hapmap]
rs11045252	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11045266	0.91[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11045270	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11045272	0.87[CEU][hapmap]
rs11045274	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs11045283	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs11045284	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs12581812	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2067524	0.81[EUR][1000 genomes]
rs3925062	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs4762964	0.91[CEU][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4762965	0.83[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61912062	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61912063	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61912064	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61912065	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7484301	0.87[CEU][hapmap]
rs7484691	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7487173	0.96[CEU][hapmap];0.90[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20588200-20618400	Weak transcription	Ovary	ovary
2	chr12:20589400-20603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:20592800-20603600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:20598000-20601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:20598000-20601800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:20598000-20602000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:20598000-20602000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:20598000-20602000	Weak transcription	Osteobl	bone
9	chr12:20598000-20602400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:20598200-20600800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:20598200-20601400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:20598200-20603400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:20599000-20600600	Enhancers	Right Atrium	heart
14	chr12:20599000-20601000	Enhancers	Right Ventricle	heart
15	chr12:20599000-20603400	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:20599000-20609600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:20599200-20602400	Weak transcription	NHDF-Ad	bronchial
18	chr12:20599400-20600600	Enhancers	Fetal Intestine Large	intestine
19	chr12:20599400-20600800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:20599400-20601200	Weak transcription	Fetal Stomach	stomach
21	chr12:20599600-20600800	Strong transcription	Hela-S3	cervix
22	chr12:20599600-20613800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:20599800-20600600	Genic enhancers	Fetal Intestine Small	intestine
24	chr12:20599800-20600600	Enhancers	Left Ventricle	heart
25	chr12:20599800-20600800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:20599800-20604000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:20600000-20602400	Weak transcription	Aorta	Aorta
28	chr12:20600000-20602800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:20600000-20604800	Weak transcription	Fetal Heart	heart

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