Variant report

Variant	rs704213
Chromosome Location	chr12:22044807-22044808
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22044149..22046273-chr12:22050074..22052072,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10770864	1.00[AMR][1000 genomes]
rs10770865	1.00[AMR][1000 genomes]
rs10841913	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836605	1.00[AMR][1000 genomes]
rs1283796	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283803	1.00[AMR][1000 genomes]
rs1283818	1.00[AMR][1000 genomes]
rs2544443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4762718	1.00[AMR][1000 genomes]
rs60507695	1.00[AMR][1000 genomes]
rs60867568	1.00[AMR][1000 genomes]
rs704199	1.00[AMR][1000 genomes]
rs704200	1.00[AMR][1000 genomes]
rs704201	1.00[AMR][1000 genomes]
rs704204	1.00[AMR][1000 genomes]
rs704207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704214	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704216	1.00[AMR][1000 genomes]
rs704218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249205	1.00[AMR][1000 genomes]
rs73262391	1.00[AMR][1000 genomes]
rs73262395	1.00[AMR][1000 genomes]
rs73266378	1.00[AMR][1000 genomes]
rs73266381	1.00[AMR][1000 genomes]
rs7975476	1.00[AMR][1000 genomes]
rs7979299	1.00[AMR][1000 genomes]
rs829067	1.00[AMR][1000 genomes]
rs829071	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22027600-22046200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:22041600-22050600	Weak transcription	Fetal Lung	lung
5	chr12:22044000-22045200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr12:22044000-22045600	Enhancers	Fetal Stomach	stomach
7	chr12:22044000-22045800	Flanking Active TSS	Liver	Liver
8	chr12:22044000-22047200	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:22044400-22045600	Enhancers	Ovary	ovary
10	chr12:22044400-22046000	Enhancers	Adipose Nuclei	Adipose
11	chr12:22044400-22046000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr12:22044400-22048400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr12:22044600-22045000	Genic enhancers	Left Ventricle	heart
14	chr12:22044600-22045400	Active TSS	Stomach Smooth Muscle	stomach
15	chr12:22044600-22045600	Enhancers	Fetal Heart	heart
16	chr12:22044600-22045800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:22044800-22045000	Enhancers	Aorta	Aorta
18	chr12:22044800-22045000	Enhancers	Psoas Muscle	Psoas
19	chr12:22044800-22045000	Flanking Active TSS	Right Atrium	heart
20	chr12:22044800-22045000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr12:22044800-22045200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:22044800-22045200	Enhancers	Right Ventricle	heart
23	chr12:22044800-22045400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr12:22044800-22045600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:22044800-22045600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:22044800-22049400	Enhancers	Colon Smooth Muscle	Colon

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