Variant report

Variant	rs11061957
Chromosome Location	chr12:1845237-1845238
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1029629	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10773986	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10848551	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10848552	0.92[ASN][1000 genomes]
rs10848553	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10848558	0.85[AMR][1000 genomes]
rs10848566	0.82[ASN][1000 genomes]
rs10848569	0.89[AMR][1000 genomes]
rs11061919	0.85[AMR][1000 genomes]
rs11061920	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11061921	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11061923	0.82[AMR][1000 genomes]
rs11061924	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11061925	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11061927	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11061937	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11061940	0.85[AMR][1000 genomes]
rs11061956	0.82[ASN][1000 genomes]
rs11061962	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11061968	0.89[AMR][1000 genomes]
rs11061974	0.88[AMR][1000 genomes]
rs1136213	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11832817	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12230579	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12231894	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12342	0.84[AMR][1000 genomes]
rs12582624	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12810020	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12812707	0.89[AMR][1000 genomes]
rs12813694	0.89[AMR][1000 genomes]
rs12828908	0.89[AMR][1000 genomes]
rs12831353	0.89[AMR][1000 genomes]
rs2058034	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2058035	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240613	0.86[AMR][1000 genomes]
rs2286385	0.86[AMR][1000 genomes]
rs2370055	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34375871	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809266	0.86[AMR][1000 genomes]
rs4766413	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489320	0.92[ASN][1000 genomes]
rs6489323	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6489324	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66590925	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7132033	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71454839	0.81[ASN][1000 genomes]
rs7297509	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313760	0.89[AMR][1000 genomes]
rs7975826	0.85[AMR][1000 genomes]
rs7978818	0.85[AMR][1000 genomes]
rs929434	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1807200-1847400	Weak transcription	Fetal Stomach	stomach
2	chr12:1816200-1849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:1816200-1857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
5	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
6	chr12:1816600-1846200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:1817000-1856600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:1823000-1866600	Weak transcription	Gastric	stomach
9	chr12:1824000-1849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:1824000-1849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:1824000-1850400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:1824000-1866600	Weak transcription	HSMM	muscle
13	chr12:1824800-1846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:1824800-1849400	Weak transcription	Thymus	Thymus
15	chr12:1825000-1849000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:1825000-1849400	Weak transcription	Fetal Thymus	thymus
17	chr12:1825200-1846600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:1825200-1850200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:1825200-1855400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:1826000-1846800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:1826000-1849200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:1826000-1885400	Weak transcription	NH-A	brain
23	chr12:1826200-1846600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:1826200-1849400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:1826200-1849600	Weak transcription	A549	lung
26	chr12:1826400-1846800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:1826400-1849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:1828600-1855800	Weak transcription	Fetal Intestine Large	intestine
29	chr12:1828800-1847200	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:1829200-1846000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:1829200-1849400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:1830000-1847000	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:1831200-1849400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:1831200-1850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:1831400-1849400	Weak transcription	Hela-S3	cervix
36	chr12:1831400-1857800	Weak transcription	Lung	lung
37	chr12:1831600-1846800	Weak transcription	Right Atrium	heart
38	chr12:1833200-1846000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:1833200-1846200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:1834400-1850600	Weak transcription	Osteobl	bone
41	chr12:1836000-1849600	Weak transcription	Fetal Brain Female	brain
42	chr12:1836800-1855400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:1837000-1846600	Weak transcription	Psoas Muscle	Psoas
44	chr12:1837000-1846800	Weak transcription	Left Ventricle	heart
45	chr12:1837000-1849400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:1837000-1861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:1837200-1846200	Weak transcription	GM12878-XiMat	blood
48	chr12:1837200-1849600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:1837200-1855400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:1837400-1846800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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