Variant report

Variant	rs12313679
Chromosome Location	chr12:20602554-20602555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10082782	0.90[AFR][1000 genomes]
rs10841526	1.00[ASN][1000 genomes]
rs11045254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313682	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55716363	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55848999	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186852	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56256297	0.83[AMR][1000 genomes]
rs56293460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59843471	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61453719	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066420	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066448	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066450	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066451	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485410	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	chr12:20598200-20603400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:20599000-20603400	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:20599000-20609600	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:20599600-20613800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:20599800-20604000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:20600000-20602800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:20600000-20604800	Weak transcription	Fetal Heart	heart
11	chr12:20600800-20603800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:20600800-20604200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:20601000-20606800	Weak transcription	Right Ventricle	heart
14	chr12:20601400-20603200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:20601400-20603200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:20601800-20602800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:20601800-20602800	Genic enhancers	Hela-S3	cervix
18	chr12:20601800-20604000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:20602000-20602800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:20602000-20603000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:20602000-20605800	Enhancers	Osteobl	bone
22	chr12:20602000-20607600	Weak transcription	Fetal Kidney	kidney
23	chr12:20602000-20609000	Enhancers	Fetal Intestine Large	intestine
24	chr12:20602200-20603800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:20602400-20602800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:20602400-20602800	Genic enhancers	Fetal Intestine Small	intestine
27	chr12:20602400-20603000	Enhancers	Aorta	Aorta
28	chr12:20602400-20603200	Enhancers	Left Ventricle	heart
29	chr12:20602400-20604200	Enhancers	NHDF-Ad	bronchial

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