Variant report

Variant	rs11052086
Chromosome Location	chr12:32730890-32730891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12301170	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318679	0.83[AMR][1000 genomes]
rs12322494	0.83[AMR][1000 genomes]
rs57077362	0.83[AMR][1000 genomes]
rs74072671	0.83[AMR][1000 genomes]
rs7976053	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32712600-32738600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
4	chr12:32713800-32738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:32714000-32740600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:32715200-32735000	Weak transcription	Placenta	Placenta
7	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
8	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:32719800-32741400	Weak transcription	Spleen	Spleen
10	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:32720400-32732200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:32720600-32732200	Weak transcription	Esophagus	oesophagus
14	chr12:32721400-32743600	Weak transcription	Fetal Heart	heart
15	chr12:32722200-32738600	Weak transcription	Brain Anterior Caudate	brain
16	chr12:32722400-32731200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:32722400-32734800	Weak transcription	Brain Germinal Matrix	brain
18	chr12:32722600-32731200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:32722600-32731200	Weak transcription	Hela-S3	cervix
20	chr12:32722600-32732200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:32722600-32732200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:32722600-32732200	Weak transcription	Gastric	stomach
23	chr12:32722600-32732200	Weak transcription	Left Ventricle	heart
24	chr12:32722600-32732200	Weak transcription	Right Ventricle	heart
25	chr12:32722600-32732200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:32722600-32732200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:32722600-32732200	Weak transcription	HepG2	liver
28	chr12:32722600-32734800	Weak transcription	Small Intestine	intestine
29	chr12:32722600-32735000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:32722600-32735000	Weak transcription	NH-A	brain
31	chr12:32722600-32739200	Weak transcription	NHLF	lung
32	chr12:32722600-32740800	Weak transcription	Brain Angular Gyrus	brain
33	chr12:32722600-32754400	Weak transcription	Colonic Mucosa	Colon
34	chr12:32722600-32757600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:32722600-32764800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:32722600-32764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:32722600-32764800	Weak transcription	Psoas Muscle	Psoas
38	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:32723000-32731400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:32723000-32735000	Weak transcription	Brain Substantia Nigra	brain
41	chr12:32723600-32756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:32724200-32735000	Weak transcription	Lung	lung
43	chr12:32724600-32734800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:32724600-32735000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:32724600-32735000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr12:32725000-32735000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:32725000-32739600	Weak transcription	Right Atrium	heart
48	chr12:32725200-32743800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
50	chr12:32726000-32741600	Weak transcription	Stomach Mucosa	stomach

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