Variant report

Variant	rs12464478
Chromosome Location	chr2:113047517-113047518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10167748	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10169159	0.84[AFR][1000 genomes]
rs10177573	0.84[AFR][1000 genomes]
rs10191002	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10203614	0.89[ASN][1000 genomes]
rs10203843	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10205897	0.85[ASN][1000 genomes]
rs10439391	0.89[ASN][1000 genomes]
rs10864903	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11123135	0.89[ASN][1000 genomes]
rs11123136	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11688418	0.84[AFR][1000 genomes]
rs11691794	0.83[AFR][1000 genomes]
rs11896500	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11903741	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11904424	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13387611	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34471791	0.84[AMR][1000 genomes]
rs34623958	0.84[AFR][1000 genomes]
rs4258804	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4299347	0.85[ASN][1000 genomes]
rs4332934	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4352239	0.85[ASN][1000 genomes]
rs4399734	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4419238	0.89[ASN][1000 genomes]
rs4430968	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4450606	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4450607	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4456711	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4507112	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4522611	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4525706	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4539797	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4542853	0.89[ASN][1000 genomes]
rs4578863	0.85[ASN][1000 genomes]
rs4622729	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4630773	0.85[ASN][1000 genomes]
rs58337061	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62160223	0.87[ASN][1000 genomes]
rs6542045	0.83[AFR][1000 genomes]
rs6542048	0.86[AFR][1000 genomes]
rs6542050	0.84[AFR][1000 genomes]
rs6542051	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6542052	0.82[AMR][1000 genomes]
rs6542053	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6542054	0.85[ASN][1000 genomes]
rs6706874	0.84[AFR][1000 genomes]
rs6708164	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6725933	0.89[ASN][1000 genomes]
rs6733138	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6744364	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6745942	0.81[AFR][1000 genomes]
rs6751146	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6758110	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6761599	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7557281	0.82[AFR][1000 genomes]
rs7557862	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7564052	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7569894	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7579561	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7591439	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7598168	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7599041	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7600338	0.89[ASN][1000 genomes]
rs7601200	0.85[ASN][1000 genomes]
rs8179708	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	esv1805614	chr2:112949713-113048705	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
7	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv874868	chr2:113021811-113076095	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv874869	chr2:113021811-113089267	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv874870	chr2:113021811-113097699	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv874871	chr2:113021811-113217630	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv874872	chr2:113027569-113070889	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv874873	chr2:113027569-113083367	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv874874	chr2:113027569-113089267	Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv874875	chr2:113038409-113070889	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv1821302	chr2:113041461-113053061	Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv3460331	chr2:113043881-113048279	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv3460332	chr2:113043881-113048279	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv3386218	chr2:113044381-113047579	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv819303	chr2:113044722-113050345	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv18533	chr2:113045162-113049710	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv829621	chr2:113045279-113048951	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv582704	chr2:113045654-113048152	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv582705	chr2:113045654-113048433	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv1793054	chr2:113045654-113048705	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv1806323	chr2:113045654-113048705	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv1822629	chr2:113045654-113048705	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv1823348	chr2:113045654-113048705	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv1823835	chr2:113045654-113048705	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv1824862	chr2:113045654-113048705	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	esv1834343	chr2:113045654-113048705	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	esv1845865	chr2:113045654-113048705	ZNF genes & repeats Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	nsv582706	chr2:113045654-113048705	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	nsv582707	chr2:113045654-113053061	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	esv3357737	chr2:113046581-113049879	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113034200-113058200	Weak transcription	Ovary	ovary
2	chr2:113034400-113047800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:113034400-113051400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:113034400-113097000	Weak transcription	Psoas Muscle	Psoas
5	chr2:113035000-113057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:113035000-113057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:113035000-113057800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:113035400-113047600	Weak transcription	Osteobl	bone
9	chr2:113035600-113047600	Weak transcription	NHDF-Ad	bronchial
10	chr2:113035600-113058200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:113035800-113058000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:113035800-113060400	Weak transcription	Fetal Thymus	thymus
13	chr2:113035800-113067400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:113036600-113058000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:113037000-113054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:113040000-113081800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:113040600-113054400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:113041200-113058600	Weak transcription	Fetal Heart	heart
19	chr2:113041400-113058600	Weak transcription	K562	blood
20	chr2:113041800-113047800	Weak transcription	Liver	Liver
21	chr2:113042400-113051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:113042600-113047600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:113045600-113051400	Weak transcription	Aorta	Aorta
24	chr2:113046000-113052600	Weak transcription	Fetal Lung	lung
25	chr2:113046200-113047800	Weak transcription	Fetal Kidney	kidney
26	chr2:113046200-113057800	Weak transcription	Thymus	Thymus
27	chr2:113046600-113047600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:113046600-113079800	Weak transcription	Fetal Stomach	stomach
29	chr2:113046800-113065000	Weak transcription	HSMMtube	muscle
30	chr2:113047000-113048000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:113047200-113048600	Enhancers	HUVEC	blood vessel
32	chr2:113047200-113058200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:113047400-113048200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:113047400-113048600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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