Variant report

Variant	rs2970811
Chromosome Location	chr12:4607989-4607990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11063175	1.00[AMR][1000 genomes]
rs11063176	1.00[AMR][1000 genomes]
rs12320287	1.00[AMR][1000 genomes]
rs2907497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909382	1.00[AMR][1000 genomes]
rs2970813	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970814	1.00[AMR][1000 genomes]
rs2970816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970817	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970825	1.00[AMR][1000 genomes]
rs6489554	1.00[AMR][1000 genomes]
rs7136895	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972349	1.00[AMR][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:123 , 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	chr12:4594400-4615400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:4594400-4646400	Weak transcription	NHLF	lung
6	chr12:4594800-4612200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:4594800-4625400	Weak transcription	Psoas Muscle	Psoas
8	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:4595400-4628600	Weak transcription	A549	lung
10	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
11	chr12:4596200-4613400	Strong transcription	Primary B cells from cord blood	blood
12	chr12:4596200-4613400	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:4596200-4614000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:4596200-4615400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:4596400-4615200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:4596400-4629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:4596600-4612200	Weak transcription	K562	blood
18	chr12:4596600-4613000	Weak transcription	Stomach Mucosa	stomach
19	chr12:4596600-4613200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:4596600-4615600	Weak transcription	HepG2	liver
21	chr12:4596600-4618000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr12:4596600-4633400	Weak transcription	Hela-S3	cervix
23	chr12:4596600-4640400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:4596800-4608000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:4596800-4617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:4597400-4615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:4598000-4609800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
30	chr12:4599000-4608000	Weak transcription	Thymus	Thymus
31	chr12:4599000-4608200	Weak transcription	NHEK	skin
32	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:4599800-4608400	Weak transcription	HSMMtube	muscle
34	chr12:4600000-4608000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:4600400-4608800	Weak transcription	NHDF-Ad	bronchial
36	chr12:4600600-4608000	Weak transcription	Colonic Mucosa	Colon
37	chr12:4603600-4613800	Strong transcription	Dnd41	blood
38	chr12:4603800-4609600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr12:4603800-4611200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:4603800-4611800	Strong transcription	Primary T cells from cord blood	blood
41	chr12:4603800-4614600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:4603800-4615000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:4603800-4616000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:4604000-4609600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:4604000-4609600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:4604000-4614400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:4604000-4615000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:4604200-4613600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:4604200-4613600	Strong transcription	HSMM	muscle
50	chr12:4604400-4610000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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