Variant report

Variant	rs17442882
Chromosome Location	chr12:40548443-40548444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40545640-40549031..12:40691796-40694737	GM12878	blood:
2	12:40545640-40549031..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11564113	1.00[JPT][hapmap]
rs17442095	1.00[JPT][hapmap]
rs17442346	1.00[JPT][hapmap]
rs17442353	1.00[JPT][hapmap]
rs17442490	1.00[JPT][hapmap]
rs17443421	1.00[JPT][hapmap]
rs17443552	1.00[JPT][hapmap]
rs17444103	1.00[JPT][hapmap]
rs17458257	1.00[JPT][hapmap]
rs17458494	1.00[JPT][hapmap]
rs17458745	1.00[JPT][hapmap]
rs17458773	1.00[JPT][hapmap]
rs17458974	1.00[JPT][hapmap]
rs17460894	1.00[JPT][hapmap]
rs17460992	1.00[JPT][hapmap]
rs17465716	1.00[JPT][hapmap]
rs17465849	1.00[JPT][hapmap]
rs17465891	1.00[JPT][hapmap]
rs17466030	1.00[JPT][hapmap]
rs17466220	1.00[JPT][hapmap]
rs17466269	1.00[JPT][hapmap]
rs17466297	1.00[JPT][hapmap]
rs17466339	1.00[JPT][hapmap]
rs17466423	1.00[JPT][hapmap]
rs17466451	1.00[JPT][hapmap]
rs17483502	1.00[JPT][hapmap]
rs17489459	1.00[JPT][hapmap]
rs17489480	1.00[JPT][hapmap]
rs17489666	1.00[JPT][hapmap]
rs17490013	1.00[JPT][hapmap]
rs17490578	1.00[JPT][hapmap]
rs17490620	1.00[JPT][hapmap]
rs17490762	1.00[JPT][hapmap]
rs17491110	1.00[JPT][hapmap]
rs17491410	1.00[JPT][hapmap]
rs17518014	1.00[JPT][hapmap]
rs17518050	1.00[JPT][hapmap]
rs17518183	1.00[JPT][hapmap]
rs17518427	1.00[JPT][hapmap]
rs17518441	1.00[JPT][hapmap]
rs17518476	1.00[JPT][hapmap]
rs17518672	1.00[JPT][hapmap]
rs17518735	1.00[JPT][hapmap]
rs17519797	1.00[JPT][hapmap]
rs28365202	1.00[JPT][hapmap]
rs28370641	1.00[JPT][hapmap]
rs28370650	1.00[JPT][hapmap]
rs28370657	1.00[JPT][hapmap]
rs28370698	1.00[JPT][hapmap]
rs28370706	1.00[JPT][hapmap]
rs28370720	1.00[JPT][hapmap]
rs28370728	1.00[JPT][hapmap]
rs28370730	1.00[JPT][hapmap]
rs28370743	1.00[JPT][hapmap]
rs28370759	1.00[JPT][hapmap]
rs28370766	1.00[JPT][hapmap]
rs28370770	1.00[JPT][hapmap]
rs28370777	1.00[JPT][hapmap]
rs28370778	1.00[JPT][hapmap]
rs28370782	1.00[JPT][hapmap]
rs28370784	1.00[JPT][hapmap]
rs28370786	1.00[JPT][hapmap]
rs28370792	1.00[JPT][hapmap]
rs28370801	1.00[JPT][hapmap]
rs28370811	1.00[JPT][hapmap]
rs28370814	1.00[JPT][hapmap]
rs28370825	1.00[JPT][hapmap]
rs7294619	1.00[JPT][hapmap]

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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40547200-40558600	Weak transcription	Liver	Liver
2	chr12:40547400-40548600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:40547600-40551800	Weak transcription	NHEK	skin
4	chr12:40547800-40549600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:40547800-40549600	Weak transcription	GM12878-XiMat	blood
6	chr12:40547800-40551200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:40547800-40551200	Weak transcription	HMEC	breast
8	chr12:40547800-40551800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:40547800-40552200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:40548000-40548800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr12:40548000-40549800	Weak transcription	Primary B cells from cord blood	blood
12	chr12:40548400-40548800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:40548400-40548800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:40548400-40548800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:40548400-40549200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:40548400-40549400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:40548400-40549400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr12:40548400-40549600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:40548400-40549800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:40548400-40551200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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