Variant report

Variant	rs11061963
Chromosome Location	chr12:1856412-1856413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1856328..1858670-chr12:1861251..1864008,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10491959	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10848555	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061928	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061929	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061931	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061932	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061934	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061938	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061939	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061941	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11061943	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11061944	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11061947	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061949	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061950	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061951	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11061953	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11061954	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061955	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061958	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061959	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11061961	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061975	0.86[ASN][1000 genomes]
rs11061977	0.81[ASN][1000 genomes]
rs11061979	0.86[ASN][1000 genomes]
rs11608456	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610397	0.84[ASN][1000 genomes]
rs11610411	0.86[ASN][1000 genomes]
rs11610838	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11612238	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11612726	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11613594	0.90[ASN][1000 genomes]
rs11614622	0.86[ASN][1000 genomes]
rs12229061	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12229999	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12230349	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12230994	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928662	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928665	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286382	0.86[ASN][1000 genomes]
rs2369975	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58500393	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61153802	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6489322	0.93[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:74 , 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	chr12:1824000-1866600	Weak transcription	HSMM	muscle
7	chr12:1826000-1885400	Weak transcription	NH-A	brain
8	chr12:1831400-1857800	Weak transcription	Lung	lung
9	chr12:1837000-1861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:1847600-1857800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:1847600-1863800	Weak transcription	Ovary	ovary
13	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
14	chr12:1849800-1868400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:1849800-1868800	Weak transcription	Pancreas	Pancrea
16	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
17	chr12:1850000-1856800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:1850000-1866600	Weak transcription	Fetal Lung	lung
19	chr12:1850200-1856600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:1850200-1865800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:1850400-1863400	Weak transcription	Fetal Stomach	stomach
23	chr12:1850400-1870400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
25	chr12:1850800-1863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:1850800-1863400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
28	chr12:1851000-1863400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:1851000-1866400	Weak transcription	NHLF	lung
30	chr12:1851200-1858000	Weak transcription	Osteobl	bone
31	chr12:1851400-1856600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:1851400-1857000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:1851400-1866600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:1851600-1858000	Weak transcription	Psoas Muscle	Psoas
35	chr12:1851600-1863400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:1851600-1866400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:1851800-1863400	Weak transcription	Thymus	Thymus
38	chr12:1851800-1863600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:1851800-1876600	Weak transcription	Stomach Mucosa	stomach
40	chr12:1854000-1858800	ZNF genes & repeats	GM12878-XiMat	blood
41	chr12:1854400-1864400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:1854600-1859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:1854600-1863400	Weak transcription	Adipose Nuclei	Adipose
44	chr12:1854600-1863400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:1854600-1870400	Weak transcription	HSMMtube	muscle
46	chr12:1854800-1858200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:1855200-1858200	Weak transcription	Brain Substantia Nigra	brain
48	chr12:1855200-1861800	Weak transcription	Brain Anterior Caudate	brain
49	chr12:1855400-1856600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
50	chr12:1855600-1857400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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