Variant report

Variant	rs12301668
Chromosome Location	chr12:1849668-1849669
allele	C/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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10082860	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10082890	0.86[AFR][1000 genomes]
rs10161408	0.86[AFR][1000 genomes]
rs10466906	0.84[AFR][1000 genomes]
rs11061916	0.87[YRI][hapmap]
rs11061960	0.92[AFR][1000 genomes]
rs11061966	0.92[AFR][1000 genomes]
rs11061969	0.81[AFR][1000 genomes]
rs11061981	0.84[AFR][1000 genomes]
rs12296498	0.86[AFR][1000 genomes]
rs12298275	0.86[AFR][1000 genomes]
rs12301209	0.86[AFR][1000 genomes]
rs12303097	0.84[AFR][1000 genomes]
rs12303326	0.86[AFR][1000 genomes]
rs12307320	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12310516	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12312339	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12319781	0.92[AFR][1000 genomes]
rs7304096	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7956914	0.84[AFR][1000 genomes]
rs7962861	1.00[YRI][hapmap]
rs7965288	0.86[AFR][1000 genomes]
rs7965379	0.86[AFR][1000 genomes]
rs9804994	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv2588995	chr12:1849668-1849668	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

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	chr12:1831200-1850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:1831400-1857800	Weak transcription	Lung	lung
14	chr12:1834400-1850600	Weak transcription	Osteobl	bone
15	chr12:1836800-1855400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:1837000-1861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:1837200-1855400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:1839400-1849800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:1840800-1852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:1840800-1854000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:1840800-1855600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:1841000-1850000	Weak transcription	Primary B cells from cord blood	blood
23	chr12:1841800-1851400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:1842400-1854200	Weak transcription	Dnd41	blood
25	chr12:1842600-1850200	Weak transcription	Primary T cells from cord blood	blood
26	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:1846000-1851800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:1846000-1852200	Enhancers	HepG2	liver
29	chr12:1846200-1850800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:1846200-1851200	Enhancers	Stomach Mucosa	stomach
31	chr12:1846400-1850800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:1846600-1851400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:1847200-1851200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:1847200-1851400	Weak transcription	Brain Anterior Caudate	brain
35	chr12:1847200-1851800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:1847400-1850200	Weak transcription	GM12878-XiMat	blood
37	chr12:1847600-1850200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:1847600-1854200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:1847600-1857800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:1847600-1863800	Weak transcription	Ovary	ovary
41	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
42	chr12:1847800-1850600	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:1848200-1850600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:1848400-1849800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:1848400-1850200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:1848400-1850200	Enhancers	Psoas Muscle	Psoas
47	chr12:1848400-1851200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:1849000-1850200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:1849000-1850600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:1849200-1850200	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links