Variant report

Variant	rs12316367
Chromosome Location	chr12:1850146-1850147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1845642..1847696-chr12:1848443..1850184,2	K562	blood:
2	chr12:1814200..1816471-chr12:1849026..1851387,2	MCF-7	breast:
3	chr12:1847981..1850303-chr12:1850538..1853225,2	K562	blood:
4	chr12:1848455..1851151-chr12:1856944..1859382,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1044471	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10735003	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10744551	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10773980	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10773988	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773989	0.81[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10773991	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10848548	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10848550	0.83[CEU][hapmap]
rs10848557	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10848561	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10848563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10848565	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10848567	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10848571	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11061971	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11612383	0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2068485	0.87[CEU][hapmap]
rs2068491	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2108642	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2190556	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286383	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2286384	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759374	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4140992	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4765843	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4765844	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766415	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6489326	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7138924	0.83[CEU][hapmap]
rs7294668	0.95[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7296521	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7955261	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7974422	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7974924	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7976827	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7978362	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978783	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9300298	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9739162	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9805049	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking 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 miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv832306	chr12:1847726-2001308	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
3	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
4	chr12:1817000-1856600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:1823000-1866600	Weak transcription	Gastric	stomach
6	chr12:1824000-1850400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:1824000-1866600	Weak transcription	HSMM	muscle
8	chr12:1825200-1850200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:1825200-1855400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:1826000-1885400	Weak transcription	NH-A	brain
11	chr12:1828600-1855800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:1831400-1857800	Weak transcription	Lung	lung
13	chr12:1834400-1850600	Weak transcription	Osteobl	bone
14	chr12:1836800-1855400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:1837000-1861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:1837200-1855400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:1840800-1852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:1840800-1854000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:1840800-1855600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:1841800-1851400	Weak transcription	Brain Angular Gyrus	brain
21	chr12:1842400-1854200	Weak transcription	Dnd41	blood
22	chr12:1842600-1850200	Weak transcription	Primary T cells from cord blood	blood
23	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:1846000-1851800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:1846000-1852200	Enhancers	HepG2	liver
26	chr12:1846200-1850800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:1846200-1851200	Enhancers	Stomach Mucosa	stomach
28	chr12:1846400-1850800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:1846600-1851400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:1847200-1851200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:1847200-1851400	Weak transcription	Brain Anterior Caudate	brain
32	chr12:1847200-1851800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:1847400-1850200	Weak transcription	GM12878-XiMat	blood
34	chr12:1847600-1850200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:1847600-1854200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:1847600-1857800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:1847600-1863800	Weak transcription	Ovary	ovary
38	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
39	chr12:1847800-1850600	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:1848200-1850600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:1848400-1850200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:1848400-1850200	Enhancers	Psoas Muscle	Psoas
43	chr12:1848400-1851200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr12:1849000-1850200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr12:1849000-1850600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:1849200-1850200	Enhancers	K562	blood
47	chr12:1849200-1850600	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:1849200-1851000	Enhancers	Liver	Liver
49	chr12:1849200-1851600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr12:1849200-1851800	Enhancers	Adipose Nuclei	Adipose

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