Variant report

Variant	rs12822321
Chromosome Location	chr12:41904751-41904752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10506190	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11615811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12814844	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1350434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34548634	1.00[ASN][1000 genomes]
rs35598170	1.00[ASN][1000 genomes]
rs882949	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv826349	chr12:41878846-41911495	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41869600-41905200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41898600-41915400	Weak transcription	Aorta	Aorta
3	chr12:41899000-41906000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:41902000-41909400	Enhancers	Brain Germinal Matrix	brain
5	chr12:41902200-41908000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:41902400-41907400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:41902400-41907800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:41902400-41915000	Weak transcription	Brain Anterior Caudate	brain
9	chr12:41902600-41907600	Weak transcription	Brain Substantia Nigra	brain
10	chr12:41902600-41907800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:41902600-41907800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:41903800-41905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:41903800-41907400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:41904400-41904800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:41904400-41905200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:41904400-41908800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:41904600-41905600	Enhancers	Brain Hippocampus Middle	brain
18	chr12:41904600-41915600	Weak transcription	Fetal Kidney	kidney

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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