Variant report

Variant	rs6488072
Chromosome Location	chr12:32799731-32799732
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:12)

rs_ID	r²[population]
rs10771971	0.80[AMR][1000 genomes]
rs10844262	0.80[EUR][1000 genomes]
rs10844265	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11052123	0.83[EUR][1000 genomes]
rs11052124	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1133509	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1875060	0.85[AMR][1000 genomes]
rs1880557	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4438130	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4931648	0.82[EUR][1000 genomes]
rs7313624	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7966020	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32755400-32800600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:32758600-32800400	Strong transcription	HSMM	muscle
3	chr12:32768400-32799800	Weak transcription	NHDF-Ad	bronchial
4	chr12:32772600-32800000	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr12:32777000-32800200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:32778800-32800400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:32779600-32800400	Weak transcription	Small Intestine	intestine
8	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:32785800-32799800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:32790600-32799800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:32791200-32800200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:32793600-32800000	Weak transcription	Esophagus	oesophagus
13	chr12:32793600-32800400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:32793600-32800400	Weak transcription	Gastric	stomach
15	chr12:32793600-32800600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:32793600-32800600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:32793600-32800800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:32793600-32800800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:32793600-32800800	Weak transcription	Spleen	Spleen
20	chr12:32793600-32801200	Weak transcription	Pancreas	Pancrea
21	chr12:32793600-32801400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:32793600-32801400	Weak transcription	Fetal Intestine Small	intestine
23	chr12:32793600-32802600	Weak transcription	Right Ventricle	heart
24	chr12:32793600-32802800	Weak transcription	Lung	lung
25	chr12:32793600-32804400	Weak transcription	Stomach Mucosa	stomach
26	chr12:32793600-32810400	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:32793600-32810800	Weak transcription	Ovary	ovary
28	chr12:32793600-32812800	Weak transcription	Aorta	Aorta
29	chr12:32793600-32813000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:32793600-32819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:32793800-32800800	Weak transcription	Brain Angular Gyrus	brain
32	chr12:32793800-32800800	Weak transcription	Fetal Brain Female	brain
33	chr12:32793800-32801000	Weak transcription	Colonic Mucosa	Colon
34	chr12:32793800-32801200	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:32793800-32802800	Weak transcription	Placenta	Placenta
36	chr12:32793800-32803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:32793800-32803800	Weak transcription	HepG2	liver
38	chr12:32793800-32810400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:32794000-32803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:32794000-32803600	Weak transcription	NH-A	brain
41	chr12:32794800-32801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:32794800-32802400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:32794800-32803400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:32794800-32812200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:32795400-32802000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:32795800-32802200	Weak transcription	HSMMtube	muscle
47	chr12:32796000-32801000	Weak transcription	Primary B cells from cord blood	blood
48	chr12:32796000-32801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:32796000-32801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:32796000-32803200	Weak transcription	Stomach Smooth Muscle	stomach

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