Variant report

Variant	rs2009380
Chromosome Location	chr12:32354368-32354369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12304056	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs12304066	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs161972	0.86[AFR][1000 genomes]
rs58186216	1.00[AFR][1000 genomes]
rs59313683	1.00[AFR][1000 genomes]
rs60994230	0.83[AFR][1000 genomes]
rs7294637	0.86[YRI][hapmap]
rs74072003	0.93[AFR][1000 genomes]
rs74072005	0.93[AFR][1000 genomes]
rs74072006	1.00[AFR][1000 genomes]
rs74074446	0.83[AFR][1000 genomes]
rs7958620	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv437142	chr12:32327158-32354966	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
2	chr12:32313400-32369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:32333400-32369200	Weak transcription	Left Ventricle	heart
5	chr12:32337000-32364800	Weak transcription	HSMM	muscle
6	chr12:32337000-32369000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:32337000-32369800	Weak transcription	Hela-S3	cervix
8	chr12:32339000-32356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:32348600-32375800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:32348800-32370400	Weak transcription	A549	lung
11	chr12:32350200-32364200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:32350400-32354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:32350800-32354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:32351400-32355800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:32351600-32354400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:32352000-32369000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:32352000-32369200	Weak transcription	Osteobl	bone
18	chr12:32352200-32355000	Weak transcription	HUVEC	blood vessel
19	chr12:32352400-32358800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:32352400-32359600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:32352400-32363800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:32352400-32364000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:32352400-32364800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:32352400-32365000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:32352400-32369000	Weak transcription	Dnd41	blood
26	chr12:32352400-32369400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:32352400-32369400	Weak transcription	HMEC	breast
28	chr12:32353000-32355400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:32353200-32354800	Enhancers	Fetal Brain Female	brain
30	chr12:32353200-32357600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:32353200-32360000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:32353400-32358600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:32353400-32369600	Weak transcription	NHDF-Ad	bronchial
34	chr12:32353600-32361400	Weak transcription	Ovary	ovary
35	chr12:32353600-32369400	Weak transcription	Primary B cells from cord blood	blood
36	chr12:32353800-32354400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:32353800-32354800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:32353800-32355000	Enhancers	Brain Cingulate Gyrus	brain
39	chr12:32354000-32354400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:32354000-32355200	Enhancers	Brain Hippocampus Middle	brain
41	chr12:32354000-32360200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:32354200-32355200	Enhancers	Fetal Brain Male	brain

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