Variant report

Variant	rs7975476
Chromosome Location	chr12:22064393-22064394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10734715	1.00[AFR][1000 genomes]
rs10743427	1.00[YRI][hapmap]
rs10770864	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10770865	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10841913	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1283796	1.00[AMR][1000 genomes]
rs1283803	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283818	1.00[AMR][1000 genomes]
rs1517273	1.00[AFR][1000 genomes]
rs2544443	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4762718	1.00[AMR][1000 genomes]
rs6487252	1.00[AFR][1000 genomes]
rs697250	1.00[YRI][hapmap]
rs697251	1.00[YRI][hapmap]
rs704195	1.00[YRI][hapmap]
rs704199	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704200	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704207	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs704213	1.00[AMR][1000 genomes]
rs704214	1.00[AMR][1000 genomes]
rs704216	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704218	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7979299	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs829067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs829071	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
4	nsv898900	chr12:22044843-22083212	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv898901	chr12:22047174-22075960	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv898902	chr12:22047174-22083212	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv557754	chr12:22051089-22072257	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv557755	chr12:22059617-22072257	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region 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	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:22045400-22064800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:22045600-22064800	Weak transcription	Fetal Heart	heart
4	chr12:22048000-22092000	Weak transcription	Psoas Muscle	Psoas
5	chr12:22048400-22091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:22049400-22088600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:22058000-22065200	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:22059400-22091800	Weak transcription	Liver	Liver
9	chr12:22060200-22064600	Weak transcription	Osteobl	bone
10	chr12:22060400-22064600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:22060600-22064800	Weak transcription	NH-A	brain
12	chr12:22060600-22065800	Weak transcription	NHLF	lung
13	chr12:22060800-22065000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:22060800-22065000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:22060800-22092200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:22061200-22064400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:22061200-22083400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:22061600-22066400	Weak transcription	Adipose Nuclei	Adipose
19	chr12:22061800-22078200	Weak transcription	Left Ventricle	heart
20	chr12:22062000-22064600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:22062000-22085600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:22062400-22064400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:22062400-22066600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:22062600-22064800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:22063000-22064600	Weak transcription	NHDF-Ad	bronchial
26	chr12:22063200-22065000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:22063400-22065000	Enhancers	Brain Germinal Matrix	brain
28	chr12:22064000-22065000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:22064200-22067600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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