Variant report

Variant	rs1002749
Chromosome Location	chr7:39963888-39963889
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	chr7:39955644..39957229-chr7:39962334..39965045,2	K562	blood:
2	chr7:39963368..39965638-chr7:39986641..39989237,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10232503	0.93[ASN][1000 genomes]
rs10243593	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10261984	0.92[ASN][1000 genomes]
rs11768464	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12535281	0.93[ASN][1000 genomes]
rs13438258	0.90[ASN][1000 genomes]
rs13438262	0.90[ASN][1000 genomes]
rs13438324	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2329615	0.92[ASN][1000 genomes]
rs28627647	0.93[ASN][1000 genomes]
rs28879668	0.90[ASN][1000 genomes]
rs34650758	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35915527	0.83[ASN][1000 genomes]
rs4720344	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6462956	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6956091	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961040	0.89[ASN][1000 genomes]
rs6963973	0.90[ASN][1000 genomes]
rs6967332	0.93[ASN][1000 genomes]
rs6970469	0.93[ASN][1000 genomes]
rs7790624	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs940272	0.93[ASN][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	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3375265	chr7:39939761-39966001	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3347596	chr7:39939761-39969926	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1002749	C7orf36	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39950000-39965000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:39961800-39964800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:39962000-39966000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:39963000-39964000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:39963000-39964000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:39963600-39964000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:39963800-39964200	Enhancers	HepG2	liver

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