Variant report

Variant	rs11180831
Chromosome Location	chr12:41725614-41725615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10785234	0.93[ASN][1000 genomes]
rs10880037	1.00[ASN][1000 genomes]
rs10880069	0.96[ASN][1000 genomes]
rs10880070	0.96[ASN][1000 genomes]
rs11180829	1.00[ASN][1000 genomes]
rs11180830	1.00[ASN][1000 genomes]
rs11180832	1.00[ASN][1000 genomes]
rs11180833	1.00[ASN][1000 genomes]
rs11180840	0.98[ASN][1000 genomes]
rs11180841	0.98[ASN][1000 genomes]
rs11180844	1.00[ASN][1000 genomes]
rs11180845	0.98[ASN][1000 genomes]
rs11180849	1.00[ASN][1000 genomes]
rs11180852	1.00[ASN][1000 genomes]
rs11180855	1.00[ASN][1000 genomes]
rs11180874	0.96[ASN][1000 genomes]
rs11180875	0.96[ASN][1000 genomes]
rs11180877	0.96[ASN][1000 genomes]
rs11180879	0.96[ASN][1000 genomes]
rs11180883	0.96[ASN][1000 genomes]
rs11180886	0.95[ASN][1000 genomes]
rs12228172	0.96[ASN][1000 genomes]
rs12230294	1.00[ASN][1000 genomes]
rs12232019	0.98[ASN][1000 genomes]
rs12299757	0.96[ASN][1000 genomes]
rs12306958	0.96[ASN][1000 genomes]
rs12582597	1.00[ASN][1000 genomes]
rs3214027	0.96[ASN][1000 genomes]
rs9652045	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41721200-41729600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:41721400-41726800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:41721400-41727000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:41721400-41727600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:41721400-41728000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:41721600-41726800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:41721600-41727000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:41721600-41727000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:41721600-41727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:41721600-41727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:41722800-41733000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:41723200-41731200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:41723600-41727000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:41725400-41725800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:41725600-41726200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:41725600-41726400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr12:41725600-41726800	Enhancers	HUES48 Cell Line	embryonic stem cell

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

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