Variant report

Variant	rs7309274
Chromosome Location	chr12:21972305-21972306
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]
rs10841893	0.90[CEU][hapmap]
rs10841894	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11046182	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11046186	0.83[ASN][1000 genomes]
rs11046188	0.80[EUR][1000 genomes]
rs11046191	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12821277	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1283810	0.93[CHB][hapmap]
rs1283811	0.93[CHB][hapmap]
rs1873638	0.93[CHB][hapmap]
rs2638441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2726120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4148679	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829060	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs829061	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829074	0.93[CHB][hapmap]
rs9668454	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1803832	chr12:21966362-21972830	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21953800-21981000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:21954400-21980600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:21955800-21973600	Weak transcription	Right Ventricle	heart
4	chr12:21958200-21981200	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:21958400-21980000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
7	chr12:21966000-21973000	Weak transcription	Gastric	stomach
8	chr12:21968800-21978800	Weak transcription	Adipose Nuclei	Adipose
9	chr12:21968800-21978800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:21970400-21973200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:21970600-21974200	Enhancers	Liver	Liver
12	chr12:21971000-21972400	Enhancers	NHLF	lung
13	chr12:21971000-21973600	Enhancers	Fetal Heart	heart
14	chr12:21971000-21981200	Weak transcription	Left Ventricle	heart
15	chr12:21971200-21973000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:21971200-21975800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:21971400-21973000	Enhancers	Osteobl	bone
18	chr12:21971600-21972400	Enhancers	NHEK	skin
19	chr12:21971600-21972600	Enhancers	Ovary	ovary
20	chr12:21971600-21972600	Enhancers	HMEC	breast
21	chr12:21971600-21972600	Enhancers	NH-A	brain
22	chr12:21971600-21973000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:21971600-21973000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:21971600-21973000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:21971600-21973200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:21971600-21973200	Enhancers	NHDF-Ad	bronchial
27	chr12:21971600-21973800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:21971600-21974000	Enhancers	Colon Smooth Muscle	Colon
29	chr12:21971800-21972800	Enhancers	Fetal Lung	lung
30	chr12:21971800-21973000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:21971800-21973000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:21971800-21973400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:21971800-21973800	Enhancers	Fetal Intestine Large	intestine
34	chr12:21972000-21972600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:21972000-21972600	Enhancers	Fetal Stomach	stomach
36	chr12:21972000-21973000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:21972000-21973200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:21972200-21972800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:21972200-21972800	Enhancers	Fetal Kidney	kidney
40	chr12:21972200-21972800	Weak transcription	HSMM	muscle
41	chr12:21972200-21973800	Enhancers	Fetal Intestine Small	intestine
42	chr12:21972200-21973800	Enhancers	Rectal Mucosa Donor 31	rectum

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