Variant report

Variant	rs56857065
Chromosome Location	chr12:4624473-4624474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10492053	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35467270	0.85[AFR][1000 genomes]
rs57308816	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71459907	0.81[AFR][1000 genomes]
rs7296957	0.85[AFR][1000 genomes]
rs7302664	0.80[AFR][1000 genomes]
rs74061919	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74061923	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061924	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7955370	0.85[AFR][1000 genomes]
rs7962626	0.80[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4590800-4631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
3	chr12:4593400-4628600	Weak transcription	Right Ventricle	heart
4	chr12:4594400-4646400	Weak transcription	NHLF	lung
5	chr12:4594800-4625400	Weak transcription	Psoas Muscle	Psoas
6	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:4595400-4628600	Weak transcription	A549	lung
8	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
9	chr12:4596400-4629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:4596600-4633400	Weak transcription	Hela-S3	cervix
11	chr12:4596600-4640400	Weak transcription	Brain Angular Gyrus	brain
12	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
14	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:4606200-4647200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:4608200-4647200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:4608600-4625600	Weak transcription	Pancreas	Pancrea
18	chr12:4608600-4625800	Weak transcription	Aorta	Aorta
19	chr12:4608600-4628800	Weak transcription	Gastric	stomach
20	chr12:4608600-4629000	Weak transcription	Brain Germinal Matrix	brain
21	chr12:4608600-4629400	Weak transcription	Spleen	Spleen
22	chr12:4609000-4627200	Weak transcription	Lung	lung
23	chr12:4609000-4633400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:4609600-4640400	Weak transcription	Fetal Kidney	kidney
25	chr12:4609600-4642400	Weak transcription	Brain Substantia Nigra	brain
26	chr12:4609800-4640800	Weak transcription	Fetal Brain Female	brain
27	chr12:4610800-4647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:4611200-4628800	Weak transcription	Fetal Stomach	stomach
29	chr12:4611200-4647000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:4611400-4627200	Weak transcription	Ovary	ovary
31	chr12:4611600-4625200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:4611600-4625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:4611600-4628800	Weak transcription	Brain Anterior Caudate	brain
34	chr12:4612400-4627200	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:4612600-4629000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:4613400-4625600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:4613400-4627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:4613400-4628000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:4613600-4631000	Weak transcription	HUVEC	blood vessel
40	chr12:4614200-4624600	Weak transcription	Fetal Intestine Large	intestine
41	chr12:4614200-4628800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:4614400-4625600	Weak transcription	Left Ventricle	heart
43	chr12:4614400-4627000	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:4614400-4628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:4614400-4628600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:4614800-4625200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:4614800-4627200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:4615000-4624600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:4615000-4625000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:4615000-4625600	Weak transcription	Brain Hippocampus Middle	brain

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