Variant report

Variant	rs2594013
Chromosome Location	chr12:32298216-32298217
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10743783	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10771917	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771921	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844137	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10844139	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1151009	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1151010	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1151011	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1151012	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1151013	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1151020	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1151026	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1151027	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1151029	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1260708	0.80[AMR][1000 genomes]
rs1631036	0.80[AMR][1000 genomes]
rs1673857	0.80[AMR][1000 genomes]
rs1673858	0.80[AMR][1000 genomes]
rs1684146	0.88[AMR][1000 genomes]
rs1684149	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1716937	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1798260	0.80[AMR][1000 genomes]
rs1798265	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1798586	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2594014	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630566	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2630578	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2630579	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652014	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2652018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668293	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2668299	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668301	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668302	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668303	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668306	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668307	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4931610	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4931611	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4931612	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931613	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931614	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931615	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931616	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6488034	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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:53 , 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	chr12:32287800-32304000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:32287800-32328400	Weak transcription	Aorta	Aorta
5	chr12:32292200-32312200	Weak transcription	HSMM	muscle
6	chr12:32292600-32299200	Weak transcription	Fetal Heart	heart
7	chr12:32293000-32301000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:32293000-32301200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:32293000-32306800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:32293000-32316000	Weak transcription	HUVEC	blood vessel
11	chr12:32293200-32298800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:32293200-32301000	Weak transcription	Osteobl	bone
13	chr12:32293200-32301400	Weak transcription	NHEK	skin
14	chr12:32293200-32301800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:32293200-32302600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:32293200-32309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:32293600-32299000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:32293600-32312400	Weak transcription	Fetal Stomach	stomach
19	chr12:32293600-32323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
21	chr12:32293800-32309000	Weak transcription	Brain Substantia Nigra	brain
22	chr12:32294000-32299200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:32294200-32299000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:32294200-32301200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:32294200-32302000	Weak transcription	Primary B cells from cord blood	blood
26	chr12:32294200-32302600	Weak transcription	Ovary	ovary
27	chr12:32294200-32309000	Weak transcription	Brain Anterior Caudate	brain
28	chr12:32294200-32318200	Weak transcription	Primary T cells from cord blood	blood
29	chr12:32295600-32298400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:32295600-32298400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:32295600-32298400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:32295600-32298600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:32295800-32298600	Enhancers	Fetal Brain Female	brain
34	chr12:32296200-32307200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:32296200-32313800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:32296600-32301800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:32296800-32307200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:32297200-32299000	Enhancers	GM12878-XiMat	blood
39	chr12:32297200-32299400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:32297200-32299400	Enhancers	Fetal Brain Male	brain
41	chr12:32297400-32298400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr12:32297400-32298600	Enhancers	Brain Germinal Matrix	brain
43	chr12:32297800-32298400	Enhancers	Brain Angular Gyrus	brain
44	chr12:32297800-32299400	Enhancers	Brain Hippocampus Middle	brain
45	chr12:32298000-32302000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:32298000-32302400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:32298000-32303200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:32298000-32305800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:32298000-32307000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:32298000-32308000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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