Variant report

Variant	rs11061974
Chromosome Location	chr12:1867017-1867018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:1866941-1867079	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1798163..1800510-chr12:1865299..1867613,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNA2D4-1	chr12:1866397-1867177	NONHSAT025414

Variant related genes	Relation type
ADIPOR2	TF binding region
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10773982	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10773986	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10773989	0.91[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs10848551	0.87[CEU][hapmap]
rs10848553	0.84[AMR][1000 genomes]
rs10848558	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10848569	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061919	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11061920	0.84[AMR][1000 genomes]
rs11061921	0.84[AMR][1000 genomes]
rs11061923	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11061924	0.84[AMR][1000 genomes]
rs11061927	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs11061937	0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11061940	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11061957	0.88[AMR][1000 genomes]
rs11061962	0.86[CEU][hapmap];0.90[AMR][1000 genomes]
rs11061968	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1136213	0.84[AMR][1000 genomes]
rs11614639	1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs11832817	0.87[CEU][hapmap];0.87[AMR][1000 genomes]
rs12230579	0.87[CEU][hapmap];0.87[AMR][1000 genomes]
rs12231894	0.90[AMR][1000 genomes]
rs12342	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12582624	0.90[AMR][1000 genomes]
rs12810020	0.87[CEU][hapmap];0.90[AMR][1000 genomes]
rs12812707	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813694	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828908	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831353	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058034	0.84[AMR][1000 genomes]
rs2058035	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs2068485	0.93[ASN][1000 genomes]
rs2240613	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286385	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2370055	0.87[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34375871	0.90[AMR][1000 genomes]
rs3809266	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4766413	0.86[CEU][hapmap];0.83[AMR][1000 genomes]
rs6489323	0.85[AMR][1000 genomes]
rs6489324	0.90[AMR][1000 genomes]
rs66590925	0.90[AMR][1000 genomes]
rs7132033	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs7297509	0.82[CEU][hapmap];0.90[AMR][1000 genomes]
rs7313760	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975826	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7978818	0.87[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs929434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1038425	chr12:1857052-1902302	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv983262	chr12:1864626-1867474	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
2	chr12:1826000-1885400	Weak transcription	NH-A	brain
3	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
5	chr12:1849800-1868400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:1849800-1868800	Weak transcription	Pancreas	Pancrea
7	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
8	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:1850400-1870400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
11	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
12	chr12:1851800-1876600	Weak transcription	Stomach Mucosa	stomach
13	chr12:1854600-1870400	Weak transcription	HSMMtube	muscle
14	chr12:1856600-1872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:1857200-1870000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:1857400-1868000	Weak transcription	Fetal Brain Female	brain
19	chr12:1858400-1868000	Weak transcription	Osteobl	bone
20	chr12:1858400-1869800	Weak transcription	NHDF-Ad	bronchial
21	chr12:1860400-1869600	Weak transcription	K562	blood
22	chr12:1861600-1869800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:1862000-1894800	Weak transcription	Colonic Mucosa	Colon
24	chr12:1862600-1874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:1863000-1868400	Strong transcription	Dnd41	blood
26	chr12:1863000-1882000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:1863200-1867800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:1863200-1869600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:1863200-1869600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:1863400-1867200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:1863400-1867200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:1863400-1867200	Strong transcription	Liver	Liver
33	chr12:1863400-1867200	Strong transcription	Fetal Intestine Large	intestine
34	chr12:1863400-1867200	Strong transcription	Fetal Intestine Small	intestine
35	chr12:1863400-1867200	Strong transcription	Fetal Stomach	stomach
36	chr12:1863400-1867200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr12:1863400-1867200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:1863400-1867200	Strong transcription	Thymus	Thymus
39	chr12:1863400-1867400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr12:1863400-1867600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:1863400-1867600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:1863400-1867600	Strong transcription	Placenta	Placenta
43	chr12:1863400-1867800	Strong transcription	Fetal Thymus	thymus
44	chr12:1863400-1868200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:1863400-1868400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr12:1863400-1868400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr12:1863400-1868600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:1863400-1869000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr12:1863400-1869400	Strong transcription	NHEK	skin
50	chr12:1863400-1869600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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