Variant report

Variant	rs12300593
Chromosome Location	chr12:32414363-32414364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10128975	1.00[AMR][1000 genomes]
rs11051888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299520	1.00[AMR][1000 genomes]
rs12301583	1.00[ASW][hapmap]
rs12303072	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304690	1.00[AMR][1000 genomes]
rs12314155	1.00[AMR][1000 genomes]
rs34086654	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35150110	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32393600-32423800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:32394000-32424200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:32394400-32423800	Weak transcription	NH-A	brain
4	chr12:32394600-32414400	Weak transcription	HUVEC	blood vessel
5	chr12:32402000-32417800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:32402000-32424000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:32402400-32423600	Weak transcription	Osteobl	bone
8	chr12:32403000-32417800	Weak transcription	Brain Angular Gyrus	brain
9	chr12:32403000-32417800	Weak transcription	Fetal Stomach	stomach
10	chr12:32403000-32424400	Weak transcription	HSMMtube	muscle
11	chr12:32403200-32417600	Weak transcription	NHDF-Ad	bronchial
12	chr12:32403200-32424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:32403200-32424400	Weak transcription	HSMM	muscle
14	chr12:32403400-32423600	Weak transcription	Brain Germinal Matrix	brain
15	chr12:32403800-32414400	Weak transcription	HMEC	breast
16	chr12:32405000-32423800	Weak transcription	Left Ventricle	heart
17	chr12:32405400-32417800	Weak transcription	Thymus	Thymus
18	chr12:32405600-32423200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:32405600-32423800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:32406000-32418000	Weak transcription	Ovary	ovary
21	chr12:32406200-32417800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:32406600-32417800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:32407000-32423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:32407400-32417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:32407800-32423400	Weak transcription	Brain Anterior Caudate	brain
26	chr12:32408200-32424000	Weak transcription	Hela-S3	cervix
27	chr12:32408200-32425600	Weak transcription	Primary T cells from cord blood	blood
28	chr12:32409400-32423600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:32409400-32423800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:32409600-32414600	Weak transcription	Fetal Thymus	thymus
31	chr12:32411200-32414400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:32411200-32416600	Weak transcription	Primary B cells from cord blood	blood
33	chr12:32411200-32417200	Weak transcription	Dnd41	blood
34	chr12:32411200-32423600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:32411200-32423600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:32411200-32426200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:32411400-32424200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:32411600-32424200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:32411800-32417800	Weak transcription	Placenta	Placenta
40	chr12:32412600-32424000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:32412600-32426000	Weak transcription	K562	blood
42	chr12:32413400-32414600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:32413400-32416800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:32413400-32437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:32413600-32414400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:32413600-32414400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:32413800-32414400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:32413800-32414600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr12:32413800-32414600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr12:32413800-32414600	Enhancers	GM12878-XiMat	blood

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