Variant report

Variant	rs11061966
Chromosome Location	chr12:1858484-1858485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1856721..1858693-chr12:1863172..1864680,2	MCF-7	breast:
2	chr12:1848455..1851151-chr12:1856944..1859382,3	K562	blood:
3	chr12:1856328..1858670-chr12:1861251..1864008,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10466906	0.91[AFR][1000 genomes]
rs11061960	1.00[AFR][1000 genomes]
rs11061981	0.91[AFR][1000 genomes]
rs12301668	0.92[AFR][1000 genomes]
rs12303097	0.91[AFR][1000 genomes]
rs12312339	0.92[AFR][1000 genomes]
rs12319781	1.00[AFR][1000 genomes]
rs7304096	0.92[AFR][1000 genomes]
rs7956914	0.91[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
2	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
3	chr12:1823000-1866600	Weak transcription	Gastric	stomach
4	chr12:1824000-1866600	Weak transcription	HSMM	muscle
5	chr12:1826000-1885400	Weak transcription	NH-A	brain
6	chr12:1837000-1861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:1847600-1863800	Weak transcription	Ovary	ovary
9	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
10	chr12:1849800-1868400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:1849800-1868800	Weak transcription	Pancreas	Pancrea
12	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
13	chr12:1850000-1866600	Weak transcription	Fetal Lung	lung
14	chr12:1850200-1865800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:1850400-1863400	Weak transcription	Fetal Stomach	stomach
17	chr12:1850400-1870400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
19	chr12:1850800-1863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:1850800-1863400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
22	chr12:1851000-1863400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:1851000-1866400	Weak transcription	NHLF	lung
24	chr12:1851400-1866600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:1851600-1863400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:1851600-1866400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:1851800-1863400	Weak transcription	Thymus	Thymus
28	chr12:1851800-1863600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:1851800-1876600	Weak transcription	Stomach Mucosa	stomach
30	chr12:1854000-1858800	ZNF genes & repeats	GM12878-XiMat	blood
31	chr12:1854400-1864400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:1854600-1859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:1854600-1863400	Weak transcription	Adipose Nuclei	Adipose
34	chr12:1854600-1863400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:1854600-1870400	Weak transcription	HSMMtube	muscle
36	chr12:1855200-1861800	Weak transcription	Brain Anterior Caudate	brain
37	chr12:1855600-1858600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:1855600-1858600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:1855600-1863400	Weak transcription	Left Ventricle	heart
40	chr12:1855800-1862200	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:1856000-1858800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:1856000-1861600	Weak transcription	Brain Angular Gyrus	brain
43	chr12:1856000-1866400	Weak transcription	HUVEC	blood vessel
44	chr12:1856600-1872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:1857000-1858600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:1857000-1863400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:1857000-1863800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:1857200-1858600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:1857200-1863000	Weak transcription	Dnd41	blood
50	chr12:1857200-1863400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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