Variant report

Variant	rs11183438
Chromosome Location	chr12:46713720-46713721
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10880953	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11183441	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12311507	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12317787	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12816413	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1471223	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1492894	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2169030	0.82[ASN][1000 genomes]
rs2408505	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2408506	0.88[ASN][1000 genomes]
rs2408508	0.82[ASN][1000 genomes]
rs34119192	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4238102	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4438106	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4547171	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4768115	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4768116	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4768695	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7132228	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7979514	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs898242	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9669381	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9795971	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv521192	chr12:46709251-46720819	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3335955	chr12:46711785-46713783	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46708800-46736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:46711800-46713800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:46711800-46715200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:46711800-46715200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:46712200-46714000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:46712200-46714600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:46712800-46713800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:46713200-46714400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:46713400-46714600	Enhancers	HUVEC	blood vessel
10	chr12:46713600-46714200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:46713600-46714200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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