Variant report

Variant	rs7294637
Chromosome Location	chr12:32307633-32307634
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12304056	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs12304066	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs161972	1.00[AMR][1000 genomes]
rs16919377	1.00[AMR][1000 genomes]
rs2009380	0.86[YRI][hapmap]
rs55802552	1.00[AMR][1000 genomes]
rs57735320	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58039881	1.00[AMR][1000 genomes]
rs58186216	1.00[AMR][1000 genomes]
rs59313683	1.00[AMR][1000 genomes]
rs59549999	1.00[AMR][1000 genomes]
rs60994230	1.00[AMR][1000 genomes]
rs7295834	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072003	1.00[AMR][1000 genomes]
rs74072005	1.00[AMR][1000 genomes]
rs74072006	1.00[AMR][1000 genomes]
rs74074440	1.00[AMR][1000 genomes]
rs74074443	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074445	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074446	1.00[AMR][1000 genomes]
rs7957620	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957784	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7958620	1.00[AMR][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	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32287600-32312200	Weak transcription	HSMMtube	muscle
3	chr12:32287800-32328400	Weak transcription	Aorta	Aorta
4	chr12:32292200-32312200	Weak transcription	HSMM	muscle
5	chr12:32293000-32316000	Weak transcription	HUVEC	blood vessel
6	chr12:32293200-32309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:32293600-32312400	Weak transcription	Fetal Stomach	stomach
8	chr12:32293600-32323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
10	chr12:32293800-32309000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:32294200-32309000	Weak transcription	Brain Anterior Caudate	brain
12	chr12:32294200-32318200	Weak transcription	Primary T cells from cord blood	blood
13	chr12:32296200-32313800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:32298000-32308000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:32298000-32308800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:32298400-32308800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:32298400-32312800	Weak transcription	Brain Angular Gyrus	brain
18	chr12:32299400-32312600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:32299400-32334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:32299600-32346200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:32300200-32319200	Weak transcription	GM12878-XiMat	blood
22	chr12:32300200-32336600	Weak transcription	A549	lung
23	chr12:32300400-32312600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:32301400-32312400	Weak transcription	Osteobl	bone
25	chr12:32301600-32312200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:32301600-32316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:32301800-32312800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:32302200-32312400	Weak transcription	NH-A	brain
29	chr12:32302600-32308800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:32303000-32308800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:32303000-32308800	Weak transcription	Ovary	ovary
32	chr12:32303000-32317800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:32303000-32319200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:32303000-32336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:32303400-32314600	Weak transcription	Primary B cells from cord blood	blood
36	chr12:32303800-32319400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:32304400-32309000	Weak transcription	Left Ventricle	heart
38	chr12:32304800-32308800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:32304800-32308800	Weak transcription	HMEC	breast
40	chr12:32304800-32308800	Weak transcription	NHEK	skin
41	chr12:32304800-32309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:32304800-32317800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:32305000-32308800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:32305000-32308800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:32305800-32308000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:32306400-32309800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr12:32306600-32309400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:32306800-32309200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr12:32306800-32309600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:32307000-32309600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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