Variant report

Variant	rs6489332
Chromosome Location	chr12:1939916-1939917
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1932447..1935067-chr12:1939828..1942115,3	MCF-7	breast:
2	chr12:1923072..1925795-chr12:1938699..1940589,2	MCF-7	breast:
3	chr12:1905406..1906059-chr12:1939762..1940329,2	MCF-7	breast:
4	chr12:1918012..1920353-chr12:1939627..1941633,2	MCF-7	breast:
5	chr12:1939207..1940397-chr12:1950388..1951271,5	MCF-7	breast:
6	chr12:1923163..1923961-chr12:1939620..1940160,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11062017	1.00[CEU][hapmap]
rs12303402	1.00[CEU][hapmap]
rs12307771	1.00[CEU][hapmap]
rs12829901	1.00[CEU][hapmap]
rs2215094	1.00[CEU][hapmap]
rs7298554	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv470259	chr12:1907853-1945042	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv518013	chr12:1914273-1952990	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv898594	chr12:1916838-1952990	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv898595	chr12:1916838-1962759	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv898596	chr12:1923040-1962759	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv898597	chr12:1928289-1962759	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv934103	chr12:1935388-1984604	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1935200-1946000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:1936600-1940000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:1936600-1940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:1938400-1940000	Weak transcription	Fetal Heart	heart
5	chr12:1938800-1940000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:1939200-1940400	Bivalent Enhancer	HepG2	liver
7	chr12:1939200-1940800	Enhancers	Pancreas	Pancrea
8	chr12:1939400-1940800	Enhancers	Gastric	stomach
9	chr12:1939400-1940800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr12:1939600-1940600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:1939600-1940600	Bivalent Enhancer	Fetal Brain Female	brain
12	chr12:1939600-1940800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr12:1939600-1941400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:1939800-1940000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr12:1939800-1940200	Bivalent Enhancer	Fetal Lung	lung
16	chr12:1939800-1940400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:1939800-1940400	Enhancers	Right Ventricle	heart
18	chr12:1939800-1940600	Enhancers	Fetal Brain Male	brain
19	chr12:1939800-1940800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:1939800-1941400	Enhancers	Brain Anterior Caudate	brain

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