Variant report

Variant	rs11176489
Chromosome Location	chr12:67336183-67336184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11176485	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309092	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319883	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333038	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1036984	chr12:67273098-67427543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1054433	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv541523	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1040723	chr12:67329322-67396230	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67328800-67339200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67332800-67336600	Enhancers	Colon Smooth Muscle	Colon
3	chr12:67334800-67336200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:67335000-67338200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:67335200-67336400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:67335200-67336800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:67335200-67337600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:67335200-67338000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:67335400-67336800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:67335400-67337000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:67335400-67340800	Weak transcription	HMEC	breast
12	chr12:67335600-67336800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:67335600-67337200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:67335800-67337200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:67335800-67345200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:67336000-67337800	Weak transcription	Primary T cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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