Variant report

Variant	rs61154618
Chromosome Location	chr12:4606656-4606657
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	0.92[AFR][1000 genomes]
rs11833007	0.92[AFR][1000 genomes]
rs16931471	0.85[AFR][1000 genomes]
rs16931500	0.92[AFR][1000 genomes]
rs16931505	0.89[AFR][1000 genomes]
rs16931512	0.85[AFR][1000 genomes]
rs16931542	0.83[AFR][1000 genomes]
rs57369656	1.00[AMR][1000 genomes]
rs57829228	0.83[AFR][1000 genomes]
rs58545752	0.83[AFR][1000 genomes]
rs60119908	0.83[AFR][1000 genomes]
rs61731955	0.81[AFR][1000 genomes]
rs61752088	1.00[AFR][1000 genomes]
rs6489549	0.92[AFR][1000 genomes]
rs6489550	0.89[AFR][1000 genomes]
rs6489551	0.92[AFR][1000 genomes]
rs7956610	0.92[AFR][1000 genomes]
rs7958954	0.92[AFR][1000 genomes]
rs7959710	0.92[AFR][1000 genomes]
rs7964538	0.92[AFR][1000 genomes]
rs7970305	0.92[AFR][1000 genomes]
rs7970521	0.92[AFR][1000 genomes]
rs7974236	0.92[AFR][1000 genomes]
rs7974341	0.92[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: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	chr12:4592600-4607800	Weak transcription	Aorta	Aorta
4	chr12:4593400-4628600	Weak transcription	Right Ventricle	heart
5	chr12:4594400-4615400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:4594400-4646400	Weak transcription	NHLF	lung
7	chr12:4594800-4607800	Weak transcription	HMEC	breast
8	chr12:4594800-4612200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:4594800-4625400	Weak transcription	Psoas Muscle	Psoas
10	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:4595000-4607800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:4595400-4628600	Weak transcription	A549	lung
13	chr12:4596000-4607800	Weak transcription	Pancreas	Pancrea
14	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
15	chr12:4596200-4613400	Strong transcription	Primary B cells from cord blood	blood
16	chr12:4596200-4613400	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:4596200-4614000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:4596200-4615400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:4596400-4615200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:4596400-4629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:4596600-4612200	Weak transcription	K562	blood
22	chr12:4596600-4613000	Weak transcription	Stomach Mucosa	stomach
23	chr12:4596600-4613200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:4596600-4615600	Weak transcription	HepG2	liver
25	chr12:4596600-4618000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:4596600-4633400	Weak transcription	Hela-S3	cervix
27	chr12:4596600-4640400	Weak transcription	Brain Angular Gyrus	brain
28	chr12:4596800-4607400	Weak transcription	Brain Germinal Matrix	brain
29	chr12:4596800-4607800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:4596800-4607800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:4596800-4608000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:4596800-4617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:4597200-4607800	Weak transcription	Gastric	stomach
34	chr12:4597400-4615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:4598000-4609800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:4598200-4607800	Weak transcription	Spleen	Spleen
37	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:4598400-4607400	Weak transcription	Fetal Brain Female	brain
39	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
40	chr12:4599000-4606800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:4599000-4607200	Weak transcription	Ovary	ovary
42	chr12:4599000-4607800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:4599000-4608000	Weak transcription	Thymus	Thymus
44	chr12:4599000-4608200	Weak transcription	NHEK	skin
45	chr12:4599200-4607800	Weak transcription	Lung	lung
46	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:4599400-4607800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:4599800-4608400	Weak transcription	HSMMtube	muscle
49	chr12:4600000-4607200	Weak transcription	Fetal Kidney	kidney
50	chr12:4600000-4608000	Weak transcription	Rectal Smooth Muscle	rectum

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