Variant report

Variant	rs2019363
Chromosome Location	chr8:122143957-122143958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122142074..122144546-chr8:122144570..122146838,3	MCF-7	breast:
2	chr8:122131048..122133501-chr8:122142190..122144429,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10956000	0.93[ASN][1000 genomes]
rs10956005	0.81[EUR][1000 genomes]
rs12681237	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12682637	0.85[EUR][1000 genomes]
rs1368594	0.82[EUR][1000 genomes]
rs1368595	0.83[EUR][1000 genomes]
rs1433392	0.82[EUR][1000 genomes]
rs1504638	0.84[EUR][1000 genomes]
rs1961717	0.99[ASN][1000 genomes]
rs2082534	0.83[EUR][1000 genomes]
rs2202382	0.83[EUR][1000 genomes]
rs2202383	0.83[EUR][1000 genomes]
rs2386265	0.82[EUR][1000 genomes]
rs2891977	0.82[EUR][1000 genomes]
rs34173371	0.84[EUR][1000 genomes]
rs4145811	0.82[EUR][1000 genomes]
rs4345561	0.99[ASN][1000 genomes]
rs4424262	0.83[EUR][1000 genomes]
rs4870760	0.82[EUR][1000 genomes]
rs4871165	0.84[EUR][1000 genomes]
rs4871166	0.83[EUR][1000 genomes]
rs4871169	0.82[EUR][1000 genomes]
rs4871172	0.82[ASN][1000 genomes]
rs4871174	0.82[ASN][1000 genomes]
rs61074667	0.84[EUR][1000 genomes]
rs6469994	0.82[EUR][1000 genomes]
rs67731008	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6997513	0.82[EUR][1000 genomes]
rs7016750	0.82[EUR][1000 genomes]
rs7016899	0.82[EUR][1000 genomes]
rs7017023	0.82[EUR][1000 genomes]
rs7017048	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2019363	NSMCE2	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122139400-122144000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:122141200-122144000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:122141400-122144400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:122141600-122144200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:122142000-122146800	Enhancers	Fetal Lung	lung
6	chr8:122142400-122144000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:122142600-122144200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:122142600-122144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:122143400-122145200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:122143400-122145600	Enhancers	Fetal Muscle Leg	muscle
11	chr8:122143400-122147600	Enhancers	Fetal Stomach	stomach
12	chr8:122143600-122144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:122143800-122144800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:122143800-122145000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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