Variant report

Variant	rs4130514
Chromosome Location	chr12:20600819-20600820
allele	C/T
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	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10841529	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[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	0.95[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	0.92[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]
rs12184495	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]
rs12372360	0.83[EUR][1000 genomes]
rs12815826	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	0.95[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:28 , 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	chr12:20598200-20601400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:20598200-20603400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:20599000-20601000	Enhancers	Right Ventricle	heart
13	chr12:20599000-20603400	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:20599000-20609600	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:20599200-20602400	Weak transcription	NHDF-Ad	bronchial
16	chr12:20599400-20601200	Weak transcription	Fetal Stomach	stomach
17	chr12:20599600-20613800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:20599800-20604000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:20600000-20602400	Weak transcription	Aorta	Aorta
20	chr12:20600000-20602800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:20600000-20604800	Weak transcription	Fetal Heart	heart
22	chr12:20600600-20602000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:20600600-20602400	Weak transcription	Fetal Intestine Small	intestine
24	chr12:20600600-20602400	Weak transcription	Left Ventricle	heart
25	chr12:20600800-20601600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr12:20600800-20601800	Weak transcription	Hela-S3	cervix
27	chr12:20600800-20603800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:20600800-20604200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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