Variant report

Variant	rs2630578
Chromosome Location	chr12:32305787-32305788
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10743783	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10771917	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10771921	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844137	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844139	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1151009	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151010	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151011	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1151012	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1151013	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1151020	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1151026	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1151027	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1151029	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs161961	0.88[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.82[ASN][1000 genomes]
rs161962	0.88[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs161965	0.84[ASN][1000 genomes]
rs161968	0.84[ASN][1000 genomes]
rs161970	0.84[ASN][1000 genomes]
rs1673857	0.85[MEX][hapmap]
rs1684146	0.83[AMR][1000 genomes]
rs1684149	0.92[CHB][hapmap];0.80[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap]
rs1716937	0.81[ASN][1000 genomes]
rs1798265	0.80[ASN][1000 genomes]
rs1798586	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2594013	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2594014	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs261905	0.88[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]
rs2630566	0.83[ASN][1000 genomes]
rs2630579	0.88[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2652014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652018	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2668293	0.81[ASN][1000 genomes]
rs2668299	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2668301	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2668302	0.83[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2668303	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2668306	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2668307	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs326631	0.88[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs4931610	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4931611	0.93[ASN][1000 genomes]
rs4931612	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931613	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931614	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488034	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:60 , 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	chr12:32293000-32306800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32293000-32316000	Weak transcription	HUVEC	blood vessel
7	chr12:32293200-32309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:32293600-32312400	Weak transcription	Fetal Stomach	stomach
9	chr12:32293600-32323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
11	chr12:32293800-32309000	Weak transcription	Brain Substantia Nigra	brain
12	chr12:32294200-32309000	Weak transcription	Brain Anterior Caudate	brain
13	chr12:32294200-32318200	Weak transcription	Primary T cells from cord blood	blood
14	chr12:32296200-32307200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:32296200-32313800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:32296800-32307200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:32298000-32305800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:32298000-32307000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:32298000-32308000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:32298000-32308800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:32298400-32306400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:32298400-32308800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:32298400-32312800	Weak transcription	Brain Angular Gyrus	brain
24	chr12:32299400-32312600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:32299400-32334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:32299600-32346200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:32300200-32319200	Weak transcription	GM12878-XiMat	blood
28	chr12:32300200-32336600	Weak transcription	A549	lung
29	chr12:32300400-32312600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:32301400-32312400	Weak transcription	Osteobl	bone
31	chr12:32301600-32312200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:32301600-32316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:32301800-32312800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:32302200-32312400	Weak transcription	NH-A	brain
35	chr12:32302600-32308800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:32302800-32306800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:32302800-32307200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:32303000-32305800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:32303000-32306000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:32303000-32306200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:32303000-32307200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:32303000-32307400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:32303000-32308800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:32303000-32308800	Weak transcription	Ovary	ovary
45	chr12:32303000-32317800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:32303000-32319200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:32303000-32336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:32303200-32306600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:32303200-32307000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:32303400-32314600	Weak transcription	Primary B cells from cord blood	blood

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