Variant report

Variant	rs12301170
Chromosome Location	chr12:32740385-32740386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32738492..32740640-chr12:32742992..32745754,2	K562	blood:
2	chr12:32739278..32740962-chr12:32742875..32745661,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11052086	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	0.98[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	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
3	chr12:32714000-32740600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
5	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:32719800-32741400	Weak transcription	Spleen	Spleen
7	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:32721400-32743600	Weak transcription	Fetal Heart	heart
10	chr12:32722600-32740800	Weak transcription	Brain Angular Gyrus	brain
11	chr12:32722600-32754400	Weak transcription	Colonic Mucosa	Colon
12	chr12:32722600-32757600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:32722600-32764800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:32722600-32764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:32722600-32764800	Weak transcription	Psoas Muscle	Psoas
16	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:32723600-32756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:32725200-32743800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
20	chr12:32726000-32741600	Weak transcription	Stomach Mucosa	stomach
21	chr12:32728600-32757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:32731800-32753400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:32732400-32741200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:32732400-32744600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:32732400-32756600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:32733200-32741400	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:32733200-32764800	Weak transcription	Esophagus	oesophagus
28	chr12:32735400-32743600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:32735400-32758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:32735400-32765000	Weak transcription	Small Intestine	intestine
31	chr12:32735600-32740600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:32735600-32741000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:32735600-32741200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:32735600-32742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:32735600-32744600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:32735600-32754400	Weak transcription	Aorta	Aorta
37	chr12:32735800-32753800	Weak transcription	Placenta	Placenta
38	chr12:32736200-32740400	Weak transcription	Right Ventricle	heart
39	chr12:32736200-32746400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:32736200-32764000	Weak transcription	Brain Germinal Matrix	brain
41	chr12:32736400-32741000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:32736400-32744400	Weak transcription	Pancreas	Pancrea
43	chr12:32736400-32754200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:32736400-32760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:32736600-32740800	Weak transcription	Fetal Intestine Large	intestine
46	chr12:32736600-32744200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:32736600-32747000	Weak transcription	Ovary	ovary
48	chr12:32736600-32757000	Weak transcription	HepG2	liver
49	chr12:32736800-32757400	Weak transcription	Fetal Kidney	kidney
50	chr12:32737200-32740600	Weak transcription	Rectal Mucosa Donor 29	rectum

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