Variant report

Variant	rs73041897
Chromosome Location	chr12:1904197-1904198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1901917..1904602-chr12:2111317..2113842,2	MCF-7	breast:
2	chr12:1902713..1907024-chr12:2044338..2048560,4	MCF-7	breast:
3	chr12:1903263..1906623-chr12:2044480..2047539,6	MCF-7	breast:
4	chr12:1895293..1898168-chr12:1899496..1904929,5	MCF-7	breast:
5	chr12:1904001..1906826-chr12:1919472..1921344,2	K562	blood:
6	chr12:1769374..1771394-chr12:1903241..1905339,2	K562	blood:

Variant related genes	Relation type
ENSG00000151062	Chromatin interaction
ENSG00000235049	Chromatin interaction
ENSG00000151065	Chromatin interaction
ENSG00000266043	Chromatin interaction
ENSG00000203593	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11061883	1.00[ASN][1000 genomes]
rs11833546	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765865	1.00[ASN][1000 genomes]
rs73032440	1.00[ASN][1000 genomes]
rs73038172	1.00[ASN][1000 genomes]
rs73038195	1.00[ASN][1000 genomes]
rs73041873	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73043810	1.00[ASN][1000 genomes]
rs73043822	1.00[ASN][1000 genomes]
rs7969511	1.00[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	nsv898592	chr12:1901485-1937801	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv898593	chr12:1901485-1962759	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 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	chr12:1879000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:1882600-1904800	Weak transcription	Stomach Mucosa	stomach
5	chr12:1885200-1904600	Weak transcription	Fetal Brain Male	brain
6	chr12:1886000-1904200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:1886000-1905000	Weak transcription	Fetal Brain Female	brain
8	chr12:1886200-1905400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:1887200-1905000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:1889200-1904800	Weak transcription	Right Atrium	heart
11	chr12:1889400-1904200	Weak transcription	Brain Germinal Matrix	brain
12	chr12:1889600-1905000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:1891200-1904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:1893200-1904800	Weak transcription	Hela-S3	cervix
15	chr12:1895600-1904600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:1895600-1905000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:1895600-1905000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:1896200-1904800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:1896200-1904800	Weak transcription	HSMMtube	muscle
20	chr12:1896200-1904800	Weak transcription	NHDF-Ad	bronchial
21	chr12:1896400-1904800	Weak transcription	Esophagus	oesophagus
22	chr12:1896600-1904800	Weak transcription	Pancreas	Pancrea
23	chr12:1896600-1905000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:1896600-1905000	Weak transcription	NH-A	brain
25	chr12:1896800-1904800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:1897000-1904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:1897000-1905000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:1897200-1904600	Weak transcription	Placenta	Placenta
29	chr12:1897400-1904800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:1897400-1904800	Weak transcription	NHLF	lung
31	chr12:1897400-1904800	Weak transcription	Osteobl	bone
32	chr12:1897400-1905000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:1897400-1905000	Weak transcription	HMEC	breast
34	chr12:1897600-1904600	Weak transcription	Colonic Mucosa	Colon
35	chr12:1897600-1904600	Weak transcription	Fetal Intestine Large	intestine
36	chr12:1897600-1904600	Weak transcription	Psoas Muscle	Psoas
37	chr12:1897600-1904800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:1897600-1904800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:1897600-1904800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:1897600-1904800	Weak transcription	Gastric	stomach
41	chr12:1897600-1904800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:1897600-1904800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:1897600-1904800	Weak transcription	Spleen	Spleen
44	chr12:1897600-1904800	Weak transcription	A549	lung
45	chr12:1897600-1904800	Weak transcription	Dnd41	blood
46	chr12:1897600-1905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:1897600-1905000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:1897600-1905000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:1897600-1905000	Weak transcription	NHEK	skin
50	chr12:1897800-1904800	Weak transcription	Monocytes-CD14+_RO01746	blood

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