Variant report

Variant	rs7563966
Chromosome Location	chr2:179198323-179198324
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]
rs57013457	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58187781	1.00[AMR][1000 genomes]
rs61440148	1.00[AMR][1000 genomes]
rs73030631	1.00[AMR][1000 genomes]
rs73032543	1.00[AMR][1000 genomes]
rs73032545	1.00[AMR][1000 genomes]
rs73032548	1.00[AMR][1000 genomes]
rs73032576	1.00[AMR][1000 genomes]
rs73034341	1.00[AMR][1000 genomes]
rs73036377	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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
2	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
3	chr2:179189200-179201200	Weak transcription	Ovary	ovary
4	chr2:179189400-179201200	Weak transcription	Fetal Brain Male	brain
5	chr2:179189800-179217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:179192600-179198600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:179192600-179200600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:179193000-179201400	Weak transcription	NH-A	brain
9	chr2:179193000-179201800	Weak transcription	Fetal Kidney	kidney
10	chr2:179193000-179214600	Weak transcription	Fetal Intestine Large	intestine
11	chr2:179193200-179199800	Enhancers	HSMMtube	muscle
12	chr2:179193200-179201000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:179193200-179201400	Weak transcription	Fetal Brain Female	brain
14	chr2:179193200-179210400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:179193200-179216200	Weak transcription	Adipose Nuclei	Adipose
16	chr2:179193400-179203400	Weak transcription	Fetal Intestine Small	intestine
17	chr2:179193400-179204800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:179193400-179215000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:179194600-179229400	Weak transcription	K562	blood
20	chr2:179195000-179199200	Enhancers	HSMM	muscle
21	chr2:179195400-179214600	Weak transcription	Left Ventricle	heart
22	chr2:179195400-179229000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:179195600-179214200	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:179195600-179214800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:179195800-179198600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:179196000-179201000	Weak transcription	Brain Anterior Caudate	brain
27	chr2:179196200-179207000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:179196400-179201200	Weak transcription	Brain Germinal Matrix	brain
29	chr2:179196600-179201000	Weak transcription	Brain Angular Gyrus	brain
30	chr2:179196600-179204600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:179196600-179213600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:179197000-179200000	Weak transcription	HMEC	breast
33	chr2:179197000-179200800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:179197000-179201000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:179197000-179201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:179197000-179209000	Weak transcription	Esophagus	oesophagus
37	chr2:179197200-179198400	Weak transcription	HepG2	liver
38	chr2:179197200-179201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:179197200-179201000	Weak transcription	Gastric	stomach
40	chr2:179197800-179200600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:179197800-179201200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:179197800-179204200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:179198000-179198400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:179198000-179199600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:179198200-179198400	Strong transcription	NHEK	skin
46	chr2:179198200-179199000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:179198200-179199000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:179198200-179199200	Enhancers	Liver	Liver
49	chr2:179198200-179199200	Enhancers	Fetal Lung	lung

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