Variant report

Variant	rs1135810
Chromosome Location	chr1:197446702-197446703
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197445719..197448622-chr1:197450318..197452233,2	K562	blood:
2	chr1:197446303..197446909-chr1:197454568..197455331,2	MCF-7	breast:
3	chr1:197445141..197448149-chr1:197448759..197452870,4	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10494756	0.81[ASN][1000 genomes]
rs10801607	0.92[ASN][1000 genomes]
rs10922231	0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs10922236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10922244	0.81[ASN][1000 genomes]
rs10922260	0.81[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs12026564	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12042609	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs1337166	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1345529	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.86[ASN][1000 genomes]
rs1923759	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes]
rs2111930	0.90[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs2287537	0.82[ASN][1000 genomes]
rs4026514	0.85[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs4147323	0.90[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap]
rs4274099	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs4418639	0.85[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap]
rs4604725	0.90[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap]
rs61829439	0.82[ASN][1000 genomes]
rs7534863	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs927510	0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs9787082	0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1135810	DENND1B	cis	parietal	SCAN
rs1135810	LHX2	trans	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197440800-197456200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:197441200-197454400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:197441200-197456000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:197441400-197456400	Weak transcription	Brain Germinal Matrix	brain
5	chr1:197445400-197447000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:197446400-197450600	Weak transcription	Stomach Mucosa	stomach

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