Variant report

Variant	rs17247841
Chromosome Location	chr12:67356231-67356232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11832276	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1394266	0.98[EUR][1000 genomes]
rs2202339	0.86[EUR][1000 genomes]
rs61682469	0.86[EUR][1000 genomes]
rs7136670	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73333061	0.98[EUR][1000 genomes]
rs73333063	0.98[EUR][1000 genomes]
rs73333064	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
8	nsv525987	chr12:67336812-67394408	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv559210	chr12:67339554-67398938	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1040543	chr12:67345920-67395598	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67354000-67356400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:67354400-67356400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:67355200-67356400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:67355600-67358200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:67355600-67358200	Weak transcription	HMEC	breast
6	chr12:67355600-67370000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:67355800-67356600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:67355800-67357200	Enhancers	Primary T cells from cord blood	blood
9	chr12:67356000-67356400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:67356200-67356400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:67356200-67356400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:67356200-67356400	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:67356200-67357000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:67356200-67357200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:67356200-67359000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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

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