Variant report

Variant	rs10001083
Chromosome Location	chr4:142049408-142049409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10029462	0.84[YRI][hapmap];0.88[AFR][1000 genomes]
rs13435113	0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28372551	1.00[AFR][1000 genomes]
rs28433132	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28438876	0.88[AFR][1000 genomes]
rs28465245	0.88[AFR][1000 genomes]
rs28556956	1.00[AMR][1000 genomes]
rs28612386	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28728280	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654251	0.88[AFR][1000 genomes];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	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv880170	chr4:142046828-142137165	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv526770	chr4:142048547-142061946	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142038600-142052600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:142039400-142051800	Weak transcription	Aorta	Aorta
3	chr4:142041000-142052200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:142043600-142051800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:142044400-142051200	Weak transcription	Osteobl	bone
6	chr4:142044600-142051600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:142044800-142051800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:142045800-142051200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:142045800-142051200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:142047200-142050200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:142047400-142049600	Enhancers	Ovary	ovary
12	chr4:142047600-142049600	Enhancers	Fetal Stomach	stomach
13	chr4:142047600-142050600	Enhancers	Colon Smooth Muscle	Colon
14	chr4:142048200-142051800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:142048400-142050400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:142048400-142050600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:142048400-142053000	Weak transcription	Pancreas	Pancrea
18	chr4:142048600-142049800	Enhancers	Adipose Nuclei	Adipose
19	chr4:142048800-142050600	Weak transcription	Right Atrium	heart
20	chr4:142048800-142055600	Active TSS	Right Ventricle	heart
21	chr4:142049000-142049600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:142049000-142049600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:142049000-142049600	Enhancers	Psoas Muscle	Psoas
24	chr4:142049000-142050000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:142049000-142050000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:142049000-142051200	Enhancers	Fetal Brain Male	brain
27	chr4:142049000-142052400	Weak transcription	Brain Substantia Nigra	brain
28	chr4:142049200-142049600	Active TSS	Stomach Smooth Muscle	stomach
29	chr4:142049200-142050600	Enhancers	Fetal Brain Female	brain
30	chr4:142049200-142051200	Enhancers	Rectal Smooth Muscle	rectum
31	chr4:142049400-142050400	Weak transcription	Brain Anterior Caudate	brain
32	chr4:142049400-142050400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr4:142049400-142050600	Enhancers	Fetal Heart	heart
34	chr4:142049400-142050600	Weak transcription	Left Ventricle	heart
35	chr4:142049400-142050800	Weak transcription	Lung	lung
36	chr4:142049400-142051000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:142049400-142051400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:142049400-142051400	Weak transcription	NHDF-Ad	bronchial

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