Variant report

Variant	rs16920125
Chromosome Location	chr12:32798119-32798120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10506090	1.00[JPT][hapmap]
rs10506093	1.00[JPT][hapmap]
rs10506095	1.00[AFR][1000 genomes]
rs10506096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10844226	1.00[JPT][hapmap]
rs10844227	1.00[JPT][hapmap]
rs10844228	1.00[JPT][hapmap]
rs10844234	1.00[JPT][hapmap]
rs11052042	1.00[JPT][hapmap]
rs11052055	1.00[JPT][hapmap]
rs11052079	1.00[JPT][hapmap]
rs11608343	1.00[JPT][hapmap]
rs11832493	1.00[AMR][1000 genomes]
rs1500875	1.00[JPT][hapmap]
rs16920058	1.00[JPT][hapmap]
rs16920084	1.00[AMR][1000 genomes]
rs16920116	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17536908	1.00[JPT][hapmap]
rs1909509	1.00[JPT][hapmap]
rs2133944	1.00[JPT][hapmap]
rs4105685	1.00[JPT][hapmap]
rs4520681	1.00[JPT][hapmap]
rs55653318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55765989	1.00[AMR][1000 genomes]
rs55961287	1.00[AMR][1000 genomes]
rs56160613	1.00[AMR][1000 genomes]
rs56231715	1.00[AMR][1000 genomes]
rs56671444	1.00[AMR][1000 genomes]
rs57389939	1.00[AMR][1000 genomes]
rs58682304	1.00[AMR][1000 genomes]
rs59023860	1.00[AMR][1000 genomes]
rs59450415	1.00[AMR][1000 genomes]
rs59670367	1.00[AMR][1000 genomes]
rs60243898	1.00[AMR][1000 genomes]
rs60330503	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072663	1.00[AMR][1000 genomes]
rs74072674	1.00[AMR][1000 genomes]
rs74072685	1.00[AMR][1000 genomes]
rs74072936	1.00[AMR][1000 genomes]
rs74072944	1.00[AMR][1000 genomes]
rs74072945	1.00[AMR][1000 genomes]
rs74073029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74073061	1.00[AMR][1000 genomes]
rs74073064	1.00[AMR][1000 genomes]
rs74073069	1.00[AMR][1000 genomes]
rs7967702	1.00[JPT][hapmap]
rs7970857	1.00[JPT][hapmap]
rs7975080	1.00[AMR][1000 genomes]
rs877129	0.81[YRI][hapmap];1.00[AMR][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:81 , 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	chr12:32757400-32799600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:32758400-32799400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:32758600-32799600	Strong transcription	Liver	Liver
5	chr12:32758600-32800400	Strong transcription	HSMM	muscle
6	chr12:32758800-32799600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:32762800-32799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:32768400-32799800	Weak transcription	NHDF-Ad	bronchial
9	chr12:32772600-32800000	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr12:32776600-32798400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:32777000-32800200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:32778800-32800400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:32779600-32800400	Weak transcription	Small Intestine	intestine
14	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:32784200-32799600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:32785800-32799800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:32790600-32799800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:32790800-32799600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:32791200-32800200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:32793600-32798200	Weak transcription	Fetal Stomach	stomach
21	chr12:32793600-32799000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:32793600-32799200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:32793600-32800000	Weak transcription	Esophagus	oesophagus
24	chr12:32793600-32800400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:32793600-32800400	Weak transcription	Gastric	stomach
26	chr12:32793600-32800600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:32793600-32800600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:32793600-32800800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:32793600-32800800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:32793600-32800800	Weak transcription	Spleen	Spleen
31	chr12:32793600-32801200	Weak transcription	Pancreas	Pancrea
32	chr12:32793600-32801400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:32793600-32801400	Weak transcription	Fetal Intestine Small	intestine
34	chr12:32793600-32802600	Weak transcription	Right Ventricle	heart
35	chr12:32793600-32802800	Weak transcription	Lung	lung
36	chr12:32793600-32804400	Weak transcription	Stomach Mucosa	stomach
37	chr12:32793600-32810400	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:32793600-32810800	Weak transcription	Ovary	ovary
39	chr12:32793600-32812800	Weak transcription	Aorta	Aorta
40	chr12:32793600-32813000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:32793600-32819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:32793800-32798200	Weak transcription	Left Ventricle	heart
43	chr12:32793800-32799000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:32793800-32800800	Weak transcription	Brain Angular Gyrus	brain
45	chr12:32793800-32800800	Weak transcription	Fetal Brain Female	brain
46	chr12:32793800-32801000	Weak transcription	Colonic Mucosa	Colon
47	chr12:32793800-32801200	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:32793800-32802800	Weak transcription	Placenta	Placenta
49	chr12:32793800-32803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:32793800-32803800	Weak transcription	HepG2	liver

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