Variant report

Variant	rs758169
Chromosome Location	chr12:1895373-1895374
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1895293..1898168-chr12:1899496..1904929,5	MCF-7	breast:
2	chr12:1725835..1728588-chr12:1894437..1896352,2	K562	blood:
3	chr12:1875581..1877544-chr12:1893631..1897459,3	MCF-7	breast:
4	chr12:1894451..1896976-chr12:1899245..1901715,2	K562	blood:

Variant related genes	Relation type
ENSG00000111186	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11061904	1.00[EUR][1000 genomes]
rs1860049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2041059	1.00[EUR][1000 genomes]
rs2108398	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2369974	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2370054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35510932	1.00[EUR][1000 genomes]
rs4765838	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4766411	1.00[EUR][1000 genomes]
rs4766420	1.00[EUR][1000 genomes]
rs56369812	1.00[EUR][1000 genomes]
rs6489321	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6489325	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7133749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7135229	1.00[EUR][1000 genomes]
rs7136278	0.96[AFR][1000 genomes]
rs7297878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7304843	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7308757	1.00[EUR][1000 genomes]
rs7314133	1.00[EUR][1000 genomes]
rs74061311	1.00[EUR][1000 genomes]
rs74061331	1.00[EUR][1000 genomes]
rs74061332	1.00[EUR][1000 genomes]
rs758026	1.00[EUR][1000 genomes]
rs758027	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7957003	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7962777	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7964434	1.00[EUR][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	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
4	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
5	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
6	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
7	nsv430442	chr12:1889823-1982151	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv556996	chr12:1891372-1934920	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
2	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
3	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
4	chr12:1868200-1901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:1878600-1897800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:1879000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:1881600-1897400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:1881600-1897600	Strong transcription	Dnd41	blood
9	chr12:1881600-1897800	Strong transcription	Fetal Thymus	thymus
10	chr12:1882000-1898200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:1882400-1896000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:1882600-1904800	Weak transcription	Stomach Mucosa	stomach
13	chr12:1885200-1904600	Weak transcription	Fetal Brain Male	brain
14	chr12:1885400-1897800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:1885400-1898000	Strong transcription	Primary T cells from cord blood	blood
16	chr12:1885600-1897600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr12:1885600-1902600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:1885800-1896600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:1885800-1904000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:1886000-1904200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:1886000-1905000	Weak transcription	Fetal Brain Female	brain
22	chr12:1886200-1897800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:1886200-1905400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:1886800-1897200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:1886800-1897600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr12:1886800-1897800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:1887000-1896800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:1887000-1897400	Strong transcription	Primary B cells from cord blood	blood
29	chr12:1887000-1897600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:1887000-1897800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:1887200-1905000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:1887600-1896400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:1887800-1899000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:1888000-1897800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:1889200-1904800	Weak transcription	Right Atrium	heart
36	chr12:1889400-1897400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:1889400-1904200	Weak transcription	Brain Germinal Matrix	brain
38	chr12:1889600-1898000	Strong transcription	GM12878-XiMat	blood
39	chr12:1889600-1904000	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:1889600-1905000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:1889800-1897600	Strong transcription	A549	lung
42	chr12:1890600-1895400	Weak transcription	NHDF-Ad	bronchial
43	chr12:1891200-1897600	Strong transcription	K562	blood
44	chr12:1891200-1904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:1891600-1895400	Weak transcription	NH-A	brain
46	chr12:1891600-1895800	Weak transcription	HUVEC	blood vessel
47	chr12:1891600-1903200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:1892000-1896000	Weak transcription	Fetal Heart	heart
49	chr12:1892200-1897800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:1892400-1895600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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