Variant report

Variant	rs7297514
Chromosome Location	chr12:1848996-1848997
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	chr12:1847981..1850303-chr12:1850538..1853225,2	K562	blood:
3	chr12:1848455..1851151-chr12:1856944..1859382,3	K562	blood:
4	chr12:1846841..1849389-chr12:1852680..1854549,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11835505	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12814293	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34091406	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34745668	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35018150	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7975600	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976209	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7980190	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:1816200-1857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
4	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
5	chr12:1817000-1856600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:1823000-1866600	Weak transcription	Gastric	stomach
7	chr12:1824000-1849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:1824000-1849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:1824000-1850400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:1824000-1866600	Weak transcription	HSMM	muscle
11	chr12:1824800-1849400	Weak transcription	Thymus	Thymus
12	chr12:1825000-1849000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:1825000-1849400	Weak transcription	Fetal Thymus	thymus
14	chr12:1825200-1850200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:1825200-1855400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:1826000-1849200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:1826000-1885400	Weak transcription	NH-A	brain
18	chr12:1826200-1849400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:1826200-1849600	Weak transcription	A549	lung
20	chr12:1826400-1849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:1828600-1855800	Weak transcription	Fetal Intestine Large	intestine
22	chr12:1829200-1849400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:1831200-1849400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:1831200-1850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:1831400-1849400	Weak transcription	Hela-S3	cervix
26	chr12:1831400-1857800	Weak transcription	Lung	lung
27	chr12:1834400-1850600	Weak transcription	Osteobl	bone
28	chr12:1836000-1849600	Weak transcription	Fetal Brain Female	brain
29	chr12:1836800-1855400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:1837000-1849400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:1837000-1861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:1837200-1849600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:1837200-1855400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:1839400-1849800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:1840600-1849600	Weak transcription	Fetal Lung	lung
36	chr12:1840800-1849400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:1840800-1852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:1840800-1854000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:1840800-1855600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:1841000-1849400	Weak transcription	Fetal Intestine Small	intestine
41	chr12:1841000-1850000	Weak transcription	Primary B cells from cord blood	blood
42	chr12:1841800-1851400	Weak transcription	Brain Angular Gyrus	brain
43	chr12:1842400-1854200	Weak transcription	Dnd41	blood
44	chr12:1842600-1850200	Weak transcription	Primary T cells from cord blood	blood
45	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:1846000-1851800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:1846000-1852200	Enhancers	HepG2	liver
48	chr12:1846200-1850800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:1846200-1851200	Enhancers	Stomach Mucosa	stomach
50	chr12:1846400-1849400	Weak transcription	Right Ventricle	heart

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