Variant report

Variant	rs12314390
Chromosome Location	chr12:20597977-20597978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:20592531..20594654-chr12:20596756..20599330,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10841527	0.96[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs11045247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11045248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11045249	0.88[LWK][hapmap];0.81[MKK][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes]
rs11045250	0.92[LWK][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs7134150	0.81[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs73239573	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20573800-20599800	Weak transcription	Left Ventricle	heart
2	chr12:20587600-20599000	Weak transcription	Right Atrium	heart
3	chr12:20588200-20618400	Weak transcription	Ovary	ovary
4	chr12:20589400-20603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:20592000-20598600	Weak transcription	Fetal Stomach	stomach
6	chr12:20592000-20600400	Weak transcription	HUVEC	blood vessel
7	chr12:20592800-20603600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:20595600-20598800	Weak transcription	Pancreas	Pancrea
9	chr12:20595600-20599000	Weak transcription	Gastric	stomach
10	chr12:20595600-20599000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:20596200-20598200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:20596400-20598200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:20596400-20598200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:20596400-20599000	Enhancers	Colon Smooth Muscle	Colon
15	chr12:20596600-20598000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:20596600-20598000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:20596600-20598800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:20596800-20598000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:20596800-20598000	Enhancers	Stomach Smooth Muscle	stomach
20	chr12:20596800-20598200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:20596800-20598200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:20596800-20599200	Enhancers	Rectal Smooth Muscle	rectum
23	chr12:20596800-20599200	Enhancers	NHDF-Ad	bronchial
24	chr12:20596800-20599600	Genic enhancers	Hela-S3	cervix
25	chr12:20596800-20599800	Enhancers	Fetal Intestine Small	intestine
26	chr12:20596800-20600000	Enhancers	Fetal Heart	heart
27	chr12:20597000-20598000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:20597600-20598000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:20597600-20598000	Active TSS	Osteobl	bone
30	chr12:20597600-20598200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:20597600-20598200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:20597600-20598200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:20597600-20598200	Enhancers	Right Ventricle	heart
34	chr12:20597600-20598400	Enhancers	Fetal Muscle Leg	muscle
35	chr12:20597600-20599000	Enhancers	Psoas Muscle	Psoas
36	chr12:20597600-20599200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:20597800-20598000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:20597800-20599400	Weak transcription	Fetal Intestine Large	intestine
39	chr12:20597800-20599800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:20597800-20600000	Enhancers	Aorta	Aorta

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