Variant report

Variant	rs59450415
Chromosome Location	chr12:32715593-32715594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10506096	1.00[AMR][1000 genomes]
rs11832493	1.00[AMR][1000 genomes]
rs16920084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16920116	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16920125	1.00[AMR][1000 genomes]
rs55653318	1.00[AMR][1000 genomes]
rs55765989	1.00[AMR][1000 genomes]
rs55961287	1.00[AMR][1000 genomes]
rs56231715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57389939	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58682304	1.00[AMR][1000 genomes]
rs59023860	1.00[AMR][1000 genomes]
rs59670367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60330503	1.00[AMR][1000 genomes]
rs74072663	1.00[AMR][1000 genomes]
rs74072674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74073029	1.00[AMR][1000 genomes]
rs74073061	1.00[AMR][1000 genomes]
rs74073064	1.00[AMR][1000 genomes]
rs74073069	1.00[AMR][1000 genomes]
rs7975080	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1037224	chr12:32698189-32721994	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv541456	chr12:32698189-32721994	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	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:98 , 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	chr12:32698800-32719600	Weak transcription	Colonic Mucosa	Colon
3	chr12:32702000-32719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:32702000-32719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:32702800-32717200	Weak transcription	HUVEC	blood vessel
6	chr12:32703000-32717000	Weak transcription	HMEC	breast
7	chr12:32703000-32717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:32703000-32719400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:32703200-32719000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:32704200-32719800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:32711800-32717000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:32711800-32719800	Weak transcription	Gastric	stomach
13	chr12:32711800-32724800	Weak transcription	Fetal Brain Male	brain
14	chr12:32712000-32717000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:32712200-32717000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:32712200-32719000	Weak transcription	Aorta	Aorta
17	chr12:32712600-32738600	Weak transcription	Primary B cells from cord blood	blood
18	chr12:32713000-32717000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:32713000-32717000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:32713000-32717000	Weak transcription	NHEK	skin
21	chr12:32713000-32719400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:32713000-32719800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:32713200-32717000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:32713400-32717000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:32713400-32719200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
28	chr12:32713800-32717000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:32713800-32717200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:32713800-32738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:32714000-32740600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:32714800-32715600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:32714800-32717000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:32714800-32720000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:32715200-32716800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:32715200-32717000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:32715200-32717000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:32715200-32717000	Weak transcription	Liver	Liver
39	chr12:32715200-32717000	Weak transcription	Brain Germinal Matrix	brain
40	chr12:32715200-32717000	Weak transcription	Esophagus	oesophagus
41	chr12:32715200-32717000	Weak transcription	Left Ventricle	heart
42	chr12:32715200-32717000	Weak transcription	Lung	lung
43	chr12:32715200-32717000	Weak transcription	Ovary	ovary
44	chr12:32715200-32717000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:32715200-32718200	Weak transcription	Brain Angular Gyrus	brain
46	chr12:32715200-32719000	Weak transcription	Pancreas	Pancrea
47	chr12:32715200-32719000	Weak transcription	Psoas Muscle	Psoas
48	chr12:32715200-32719000	Weak transcription	Right Atrium	heart
49	chr12:32715200-32719000	Weak transcription	Right Ventricle	heart
50	chr12:32715200-32719000	Weak transcription	Spleen	Spleen

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