Variant report

Variant	rs73041873
Chromosome Location	chr12:1898481-1898482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1799462..1802204-chr12:1898001..1899846,2	MCF-7	breast:
2	chr12:1896710..1899686-chr6:3019390..3022643,4	K562	blood:
3	chr12:1872563..1875477-chr12:1898217..1901063,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270346	Chromatin interaction
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11061883	1.00[ASN][1000 genomes]
rs11833546	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296831	0.90[EUR][1000 genomes]
rs1468491	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16928751	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1860054	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1860055	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2058112	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2286380	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35854772	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4765865	1.00[ASN][1000 genomes]
rs57414925	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66673051	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67365540	0.94[EUR][1000 genomes]
rs67405160	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67567175	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7132184	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73032440	1.00[ASN][1000 genomes]
rs73038172	1.00[ASN][1000 genomes]
rs73038195	1.00[ASN][1000 genomes]
rs73040178	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73041897	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73043810	1.00[ASN][1000 genomes]
rs73043822	1.00[ASN][1000 genomes]
rs7316374	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7967137	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7969511	1.00[ASN][1000 genomes]
rs9805042	0.88[EUR][1000 genomes]
rs9805109	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv983263	chr12:1896394-1898817	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv1824001	chr12:1896738-1951940	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription 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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
2	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
3	chr12:1868200-1901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:1879000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:1882600-1904800	Weak transcription	Stomach Mucosa	stomach
6	chr12:1885200-1904600	Weak transcription	Fetal Brain Male	brain
7	chr12:1885600-1902600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:1885800-1904000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:1886000-1904200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:1886000-1905000	Weak transcription	Fetal Brain Female	brain
11	chr12:1886200-1905400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:1887200-1905000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:1887800-1899000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr12:1889200-1904800	Weak transcription	Right Atrium	heart
15	chr12:1889400-1904200	Weak transcription	Brain Germinal Matrix	brain
16	chr12:1889600-1904000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:1889600-1905000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:1891200-1904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:1891600-1903200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:1893200-1904800	Weak transcription	Hela-S3	cervix
21	chr12:1893400-1899800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:1893800-1900200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:1895600-1900400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:1895600-1902600	Weak transcription	Ovary	ovary
25	chr12:1895600-1904600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:1895600-1905000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:1895600-1905000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:1896000-1902200	Weak transcription	Fetal Lung	lung
29	chr12:1896200-1900000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:1896200-1900800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:1896200-1904800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:1896200-1904800	Weak transcription	HSMMtube	muscle
33	chr12:1896200-1904800	Weak transcription	NHDF-Ad	bronchial
34	chr12:1896400-1900000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:1896400-1904800	Weak transcription	Esophagus	oesophagus
36	chr12:1896600-1900200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:1896600-1900400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:1896600-1904800	Weak transcription	Pancreas	Pancrea
39	chr12:1896600-1905000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:1896600-1905000	Weak transcription	NH-A	brain
41	chr12:1896800-1899800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:1896800-1900000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:1896800-1900400	Weak transcription	Fetal Heart	heart
44	chr12:1896800-1900600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:1896800-1904800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:1897000-1899800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:1897000-1904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:1897000-1905000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:1897200-1899800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:1897200-1900200	Weak transcription	Primary B cells from peripheral blood	blood

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