Variant report

Variant	rs17863786
Chromosome Location	chr2:234607863-234607864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234394239..234398905-chr2:234606921..234610330,8	MCF-7	breast:
2	chr2:234464274..234466431-chr2:234607467..234610619,3	MCF-7	breast:
3	chr2:234467119..234468871-chr2:234606248..234608879,2	MCF-7	breast:
4	chr2:234607784..234610773-chr2:234739083..234742311,4	MCF-7	breast:
5	chr2:234606620..234610585-chr2:234612683..234620351,17	MCF-7	breast:
6	chr2:234382718..234385306-chr2:234606454..234608053,2	MCF-7	breast:
7	chr2:234606390..234610516-chr2:234613313..234618925,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224814	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17862850	1.00[CEU][hapmap]
rs17862858	1.00[CEU][hapmap]
rs17863755	1.00[CEU][hapmap]
rs17863777	1.00[CEU][hapmap];1.00[MKK][hapmap]
rs17863783	1.00[CEU][hapmap]
rs17863784	0.80[YRI][hapmap]
rs17864687	1.00[CEU][hapmap]
rs17864692	0.80[YRI][hapmap]
rs17868309	1.00[CEU][hapmap]
rs17868315	1.00[CEU][hapmap]
rs17868321	1.00[CEU][hapmap]
rs17868327	1.00[CEU][hapmap]
rs28898581	0.80[YRI][hapmap]
rs28948068	1.00[CEU][hapmap]
rs28948385	1.00[CEU][hapmap]
rs28969701	1.00[CEU][hapmap]
rs7569014	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234597800-234608600	Weak transcription	Gastric	stomach
2	chr2:234599400-234608000	Weak transcription	HUVEC	blood vessel
3	chr2:234600400-234608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:234602800-234614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:234603400-234608000	Weak transcription	Stomach Mucosa	stomach
6	chr2:234604200-234608600	Weak transcription	HepG2	liver
7	chr2:234605600-234609000	Enhancers	Liver	Liver
8	chr2:234606600-234608000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:234607000-234609200	Enhancers	Hela-S3	cervix
10	chr2:234607200-234608200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:234607400-234608600	Genic enhancers	NHEK	skin
12	chr2:234607400-234609000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:234607400-234609200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:234607600-234609200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:234607800-234608000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:234607800-234608000	Flanking Active TSS	A549	lung
17	chr2:234607800-234608600	Weak transcription	Pancreas	Pancrea
18	chr2:234607800-234609200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:234607800-234609200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:234607800-234609200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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