Variant report

Variant	rs58191549
Chromosome Location	chr12:8935385-8935386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10082851	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10082862	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129059	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046855	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046861	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046868	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046896	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046898	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046899	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046943	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047004	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047012	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047040	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047058	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047060	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047080	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047108	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11502439	1.00[EUR][1000 genomes]
rs12099874	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296102	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296587	0.83[AMR][1000 genomes]
rs12297411	1.00[EUR][1000 genomes]
rs12297919	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298316	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299388	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300722	0.83[AMR][1000 genomes]
rs12300916	1.00[EUR][1000 genomes]
rs12307497	1.00[EUR][1000 genomes]
rs12309620	0.83[AMR][1000 genomes]
rs12311048	1.00[EUR][1000 genomes]
rs12311105	1.00[EUR][1000 genomes]
rs12312707	1.00[EUR][1000 genomes]
rs12314072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315566	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318911	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319105	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319898	1.00[EUR][1000 genomes]
rs12320520	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321251	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322748	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651596	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28812300	1.00[EUR][1000 genomes]
rs57750938	1.00[EUR][1000 genomes]
rs58704538	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58777503	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59291561	1.00[EUR][1000 genomes]
rs59480189	1.00[EUR][1000 genomes]
rs59705800	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60389926	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60467762	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60925344	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61368791	1.00[EUR][1000 genomes]
rs7134750	1.00[EUR][1000 genomes]
rs7139182	1.00[EUR][1000 genomes]
rs7953439	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953800	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963296	0.83[AMR][1000 genomes]
rs7979018	1.00[EUR][1000 genomes]
rs7980514	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9783460	1.00[EUR][1000 genomes]
rs9783480	1.00[EUR][1000 genomes]
rs9783524	0.83[AMR][1000 genomes];1.00[EUR][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	esv34096	chr12:8927520-8968810	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8878400-8937200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:8882200-8938400	Weak transcription	Spleen	Spleen
3	chr12:8882200-8939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:8883400-8938800	Weak transcription	Primary B cells from cord blood	blood
5	chr12:8889200-8935800	Weak transcription	A549	lung
6	chr12:8889200-8936600	Weak transcription	Brain Angular Gyrus	brain
7	chr12:8890600-8937000	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:8894200-8937800	Weak transcription	Esophagus	oesophagus
9	chr12:8895600-8937800	Weak transcription	HSMMtube	muscle
10	chr12:8895600-8941200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:8899400-8941200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:8903000-8941200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:8905000-8938400	Weak transcription	Pancreas	Pancrea
14	chr12:8905800-8941200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:8906000-8941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:8906400-8937400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:8906800-8941200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:8907000-8935600	Weak transcription	HSMM	muscle
19	chr12:8907000-8935600	Weak transcription	Osteobl	bone
20	chr12:8907000-8938200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:8907200-8936000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:8907200-8937600	Weak transcription	NH-A	brain
23	chr12:8908600-8941000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:8908600-8941200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:8908600-8941200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:8909800-8936400	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:8911600-8937800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:8911800-8935600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:8913800-8938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:8918400-8935800	Weak transcription	NHLF	lung
31	chr12:8918400-8937200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:8921000-8936200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:8921000-8937200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:8922200-8936200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:8923600-8937200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:8924800-8936200	Strong transcription	Hela-S3	cervix
37	chr12:8926200-8935400	Weak transcription	NHEK	skin
38	chr12:8926200-8937000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:8926200-8938400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:8926400-8935400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:8926400-8935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:8926400-8935600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:8926400-8936000	Weak transcription	Fetal Stomach	stomach
44	chr12:8926400-8936200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:8926400-8936600	Weak transcription	Aorta	Aorta
46	chr12:8926400-8936800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:8926400-8937200	Weak transcription	Lung	lung
48	chr12:8926400-8937400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:8926400-8937800	Weak transcription	Fetal Intestine Small	intestine
50	chr12:8926400-8938000	Weak transcription	Thymus	Thymus

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