Variant report

Variant	rs16920058
Chromosome Location	chr12:32725739-32725740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10506090	1.00[JPT][hapmap]
rs10506093	1.00[JPT][hapmap]
rs10506094	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10844226	1.00[JPT][hapmap]
rs10844227	1.00[JPT][hapmap]
rs10844228	1.00[JPT][hapmap]
rs10844234	1.00[JPT][hapmap]
rs10844243	1.00[JPT][hapmap]
rs10844245	0.91[ASN][1000 genomes]
rs10844246	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10844248	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052042	1.00[JPT][hapmap]
rs11052055	1.00[JPT][hapmap]
rs11052071	1.00[ASN][1000 genomes]
rs11052072	1.00[ASN][1000 genomes]
rs11052076	0.91[ASN][1000 genomes]
rs11052078	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11052079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11052081	0.95[ASN][1000 genomes]
rs11052082	0.95[ASN][1000 genomes]
rs11052083	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052084	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11052085	1.00[ASN][1000 genomes]
rs11052092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11608343	1.00[JPT][hapmap]
rs1500875	1.00[JPT][hapmap]
rs16920125	1.00[JPT][hapmap]
rs17536908	1.00[JPT][hapmap]
rs17538032	1.00[JPT][hapmap]
rs17538775	1.00[CHB][hapmap]
rs1909509	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102043	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2133944	1.00[JPT][hapmap]
rs35861269	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4105685	1.00[JPT][hapmap]
rs4520681	1.00[JPT][hapmap]
rs4525322	1.00[ASN][1000 genomes]
rs4931019	1.00[CHB][hapmap]
rs61926167	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6488066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73081434	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73081435	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73081444	1.00[ASN][1000 genomes]
rs73100149	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7313539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7961549	1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7967702	1.00[JPT][hapmap]
rs7970857	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv973958	chr12:32712509-32726963	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:32712600-32738600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
5	chr12:32713800-32738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:32714000-32740600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:32715200-32735000	Weak transcription	Placenta	Placenta
8	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
9	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:32715400-32730600	Weak transcription	Fetal Stomach	stomach
11	chr12:32719800-32741400	Weak transcription	Spleen	Spleen
12	chr12:32720000-32728000	Weak transcription	Liver	Liver
13	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:32720400-32729000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:32720400-32732200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:32720600-32729200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:32720600-32732200	Weak transcription	Esophagus	oesophagus
19	chr12:32720800-32728200	Weak transcription	Aorta	Aorta
20	chr12:32721400-32743600	Weak transcription	Fetal Heart	heart
21	chr12:32722000-32725800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:32722200-32728200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:32722200-32738600	Weak transcription	Brain Anterior Caudate	brain
24	chr12:32722400-32728000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:32722400-32729000	Weak transcription	HUVEC	blood vessel
26	chr12:32722400-32729200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:32722400-32731200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:32722400-32734800	Weak transcription	Brain Germinal Matrix	brain
29	chr12:32722600-32726400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:32722600-32726600	Weak transcription	Fetal Kidney	kidney
31	chr12:32722600-32726600	Weak transcription	NHDF-Ad	bronchial
32	chr12:32722600-32726800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:32722600-32727600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:32722600-32727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:32722600-32727600	Weak transcription	Pancreas	Pancrea
36	chr12:32722600-32727600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:32722600-32728000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:32722600-32728000	Weak transcription	Fetal Intestine Small	intestine
39	chr12:32722600-32728200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:32722600-32728200	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:32722600-32728200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:32722600-32729000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:32722600-32729000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:32722600-32729200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:32722600-32729200	Weak transcription	Adipose Nuclei	Adipose
46	chr12:32722600-32730400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:32722600-32730400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:32722600-32730800	Weak transcription	Fetal Intestine Large	intestine
49	chr12:32722600-32731200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:32722600-32731200	Weak transcription	Hela-S3	cervix

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