Variant report

Variant	rs7970521
Chromosome Location	chr12:4612943-4612944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11832481	0.91[YRI][hapmap];1.00[AFR][1000 genomes]
rs11833007	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931471	0.85[YRI][hapmap];0.93[AFR][1000 genomes]
rs16931500	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931505	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931512	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931542	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57829228	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58545752	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60119908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61154618	0.92[AFR][1000 genomes]
rs61731955	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61752088	0.92[AFR][1000 genomes]
rs6489549	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6489550	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6489551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7956610	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7958954	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959710	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7964538	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7969764	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970305	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974236	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974341	1.00[YRI][hapmap];1.00[AFR][1000 genomes];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:121 , 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	chr12:4594800-4625400	Weak transcription	Psoas Muscle	Psoas
7	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:4595400-4628600	Weak transcription	A549	lung
9	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
10	chr12:4596200-4613400	Strong transcription	Primary B cells from cord blood	blood
11	chr12:4596200-4613400	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:4596200-4614000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:4596200-4615400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:4596400-4615200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:4596400-4629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:4596600-4613000	Weak transcription	Stomach Mucosa	stomach
17	chr12:4596600-4613200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:4596600-4615600	Weak transcription	HepG2	liver
19	chr12:4596600-4618000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:4596600-4633400	Weak transcription	Hela-S3	cervix
21	chr12:4596600-4640400	Weak transcription	Brain Angular Gyrus	brain
22	chr12:4596800-4617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:4597400-4615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
26	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:4603600-4613800	Strong transcription	Dnd41	blood
28	chr12:4603800-4614600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:4603800-4615000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:4603800-4616000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:4604000-4614400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:4604000-4615000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:4604200-4613600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:4604200-4613600	Strong transcription	HSMM	muscle
35	chr12:4604400-4615000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:4604600-4613600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr12:4604600-4614000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:4604600-4614200	Strong transcription	Fetal Thymus	thymus
39	chr12:4604800-4614600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:4604800-4615200	Strong transcription	Adipose Nuclei	Adipose
41	chr12:4605200-4613800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:4605200-4614400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:4605600-4613200	Weak transcription	HUVEC	blood vessel
44	chr12:4605600-4614800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:4605800-4615000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:4606200-4647200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:4606400-4614200	Strong transcription	Placenta	Placenta
48	chr12:4607800-4614200	Strong transcription	Fetal Intestine Large	intestine
49	chr12:4608200-4615200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:4608200-4615600	Weak transcription	H9 Cell Line	embryonic stem cell

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