Variant report

Variant	rs1667615
Chromosome Location	chr2:74348797-74348798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74345450..74348977-chr2:74371413..74376785,7	MCF-7	breast:
2	chr2:74077294..74080205-chr2:74346163..74349130,2	K562	blood:
3	chr2:74347130..74350614-chr2:74373490..74375151,4	K562	blood:
4	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:
5	chr2:74153590..74155495-chr2:74346048..74348829,2	MCF-7	breast:
6	chr2:74054992..74057413-chr2:74347412..74349314,2	K562	blood:
7	chr2:74345336..74350949-chr2:74424473..74426826,5	K562	blood:
8	chr2:74335555..74337935-chr2:74348747..74350804,2	MCF-7	breast:
9	chr2:74346058..74349268-chr2:74424477..74426947,5	K562	blood:
10	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
11	chr2:74347518..74349564-chr2:74361288..74362886,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073263.1-3	chr2:74345408-74349576	NONHSAT071660
2	lnc-AC073263.1-3	chr2:74347807-74349577	NONHSAT071661

No data

Variant related genes	Relation type
ENSG00000065911	Chromatin interaction
ENSG00000217702	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000255989	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1026150	0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1095969	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1095970	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12465641	0.86[JPT][hapmap]
rs12996870	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13025827	0.86[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.91[ASN][1000 genomes]
rs1667616	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667622	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1723283	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1723284	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1723290	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2122290	0.86[JPT][hapmap]
rs2280642	0.85[JPT][hapmap]
rs2421753	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3099822	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3099823	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108161	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108162	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34284832	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35955502	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4429500	0.82[JPT][hapmap]
rs4452177	0.84[JPT][hapmap]
rs6707619	0.82[JPT][hapmap]
rs6758220	0.91[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs702463	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs702464	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs828841	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828843	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828845	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828846	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828847	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828848	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs828850	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs828864	0.89[ASN][1000 genomes]
rs828865	0.89[ASN][1000 genomes]
rs828867	0.90[JPT][hapmap]
rs828897	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs828898	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828901	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 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	chr2:74347800-74348800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:74347800-74348800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:74347800-74348800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr2:74347800-74348800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr2:74347800-74349000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:74347800-74349000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr2:74347800-74349400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr2:74348000-74348800	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr2:74348000-74357400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:74348200-74350000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:74348200-74350200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:74348200-74355000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:74348200-74360400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:74348200-74367600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:74348400-74348800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr2:74348600-74361800	Weak transcription	Hela-S3	cervix

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