Variant report

Variant	rs7012371
Chromosome Location	chr8:120624092-120624093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12676315	0.93[AFR][1000 genomes]
rs12678907	0.85[AFR][1000 genomes]
rs17194431	0.93[AFR][1000 genomes]
rs2249015	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2305126	0.84[EUR][1000 genomes]
rs2326304	0.89[AFR][1000 genomes]
rs2326306	0.92[AFR][1000 genomes]
rs28668309	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3793378	0.86[AFR][1000 genomes]
rs6469835	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6982863	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7012253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs745383	0.84[EUR][1000 genomes]
rs7832704	0.81[EUR][1000 genomes]
rs9297600	0.90[AFR][1000 genomes]
rs976423	0.84[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
4	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
5	chr8:120602000-120627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:120607800-120626600	Weak transcription	Liver	Liver
7	chr8:120611000-120635400	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:120614800-120628800	Weak transcription	Lung	lung
9	chr8:120615000-120641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:120615400-120624800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:120615800-120626600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:120616200-120629000	Weak transcription	Osteobl	bone
13	chr8:120618000-120627400	Strong transcription	NHDF-Ad	bronchial
14	chr8:120618200-120629400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:120618600-120632800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:120618800-120630400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:120618800-120632800	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:120618800-120637200	Weak transcription	Fetal Kidney	kidney
19	chr8:120619200-120627000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:120619200-120648000	Weak transcription	Brain Angular Gyrus	brain
21	chr8:120619400-120624600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:120620200-120627400	Weak transcription	Spleen	Spleen
23	chr8:120620200-120639200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:120621200-120627400	Weak transcription	NHLF	lung
25	chr8:120621200-120634400	Weak transcription	Primary T cells from cord blood	blood
26	chr8:120621800-120627400	Weak transcription	Pancreas	Pancrea
27	chr8:120621800-120643400	Weak transcription	Aorta	Aorta
28	chr8:120622000-120633000	Weak transcription	Right Atrium	heart
29	chr8:120622400-120626600	Weak transcription	Adipose Nuclei	Adipose
30	chr8:120623200-120625000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:120623200-120625200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:120623600-120624200	Strong transcription	Fetal Intestine Small	intestine
33	chr8:120623600-120624600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:120623600-120625000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr8:120623600-120625600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:120623800-120625600	Strong transcription	Fetal Lung	lung
37	chr8:120623800-120631200	Weak transcription	Brain Substantia Nigra	brain
38	chr8:120624000-120624800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:120624000-120629000	Weak transcription	Placenta	Placenta
40	chr8:120624000-120633000	Weak transcription	Left Ventricle	heart

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