Variant report

Variant	rs13437223
Chromosome Location	chr6:140260613-140260614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:140250688..140253465-chr6:140258352..140260834,2	K562	blood:
2	chr6:140259101..140260613-chr6:140392985..140394569,2	K562	blood:
3	chr6:140247524..140250315-chr6:140258612..140260750,2	K562	blood:
4	chr6:140259128..140260901-chr6:140296853..140299455,2	MCF-7	breast:
5	chr6:140257717..140262130-chr6:140263178..140266087,5	K562	blood:
6	chr6:140147200..140149310-chr6:140258433..140260854,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11751210	1.00[JPT][hapmap]
rs11756192	1.00[JPT][hapmap]
rs11758188	0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap]
rs1408295	0.86[GIH][hapmap]
rs17069446	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs17516817	1.00[JPT][hapmap]
rs17755520	1.00[JPT][hapmap]
rs17811661	1.00[ASN][1000 genomes]
rs17811871	1.00[JPT][hapmap]
rs17812617	1.00[JPT][hapmap]
rs17812647	1.00[JPT][hapmap]
rs1890428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2144168	1.00[JPT][hapmap]
rs477737	1.00[JPT][hapmap]
rs4895578	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895580	1.00[JPT][hapmap]
rs4896502	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs593265	0.83[ASN][1000 genomes]
rs597854	1.00[ASN][1000 genomes]
rs608185	1.00[ASN][1000 genomes]
rs615587	0.86[ASN][1000 genomes]
rs638899	1.00[ASN][1000 genomes]
rs645740	1.00[ASN][1000 genomes]
rs656337	1.00[ASN][1000 genomes]
rs656363	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs657276	1.00[ASN][1000 genomes]
rs661507	1.00[ASN][1000 genomes]
rs671038	1.00[ASN][1000 genomes]
rs6913694	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs9495604	1.00[YRI][hapmap]
rs9495609	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9495610	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13437223	TBC1D30	trans	lymphoblastoid	seeQTL
rs13437223	ADAMDEC1	trans	lymphoblastoid	seeQTL
rs13437223	ENTHD1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140255000-140262200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:140259200-140262800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:140259200-140263000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:140259200-140265600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:140259400-140261800	Weak transcription	K562	blood
6	chr6:140259800-140262600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:140260000-140261200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:140260000-140262600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:140260200-140261000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:140260200-140261000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:140260200-140261200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:140260400-140261000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:140260400-140261000	Enhancers	Fetal Brain Female	brain
14	chr6:140260600-140262000	Weak transcription	Primary hematopoietic stem cells	blood

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