Variant report

Variant	rs6755814
Chromosome Location	chr2:171666997-171666998
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171664685..171667660-chr2:171785789..171787317,2	K562	blood:

Variant related genes	Relation type
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10168078	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1065651	0.84[ASN][1000 genomes]
rs10803852	0.81[ASW][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs10930440	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11675773	0.84[ASN][1000 genomes]
rs12464863	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12472397	0.92[JPT][hapmap]
rs12692960	0.84[ASN][1000 genomes]
rs1362488	0.84[ASN][1000 genomes]
rs1420378	0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1420379	0.84[ASN][1000 genomes]
rs1420381	0.80[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap]
rs17694562	0.84[ASN][1000 genomes]
rs17694708	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17751035	0.84[ASN][1000 genomes]
rs17751072	0.84[ASN][1000 genomes]
rs17751234	0.84[ASN][1000 genomes]
rs1894920	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1978340	0.94[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs1990653	0.84[ASN][1000 genomes]
rs2111000	0.84[ASN][1000 genomes]
rs2216134	0.84[ASN][1000 genomes]
rs2287110	0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs2287111	0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2356234	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs2883888	1.00[ASN][1000 genomes]
rs34137349	1.00[ASN][1000 genomes]
rs34436957	0.84[ASN][1000 genomes]
rs35127716	0.84[ASN][1000 genomes]
rs35872782	0.81[ASN][1000 genomes]
rs3762553	0.81[ASN][1000 genomes]
rs3791871	0.82[ASN][1000 genomes]
rs3791872	0.82[ASN][1000 genomes]
rs3791878	0.94[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4668315	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4668316	0.84[ASN][1000 genomes]
rs55693618	0.84[ASN][1000 genomes]
rs55923006	0.84[ASN][1000 genomes]
rs56364811	0.84[ASN][1000 genomes]
rs56989102	0.97[ASN][1000 genomes]
rs58919807	0.84[ASN][1000 genomes]
rs62168396	0.82[ASN][1000 genomes]
rs62168397	0.82[ASN][1000 genomes]
rs62168399	0.84[ASN][1000 genomes]
rs62168400	0.84[ASN][1000 genomes]
rs62168401	0.84[ASN][1000 genomes]
rs62168405	0.84[ASN][1000 genomes]
rs62168409	0.84[ASN][1000 genomes]
rs62168446	0.88[ASN][1000 genomes]
rs62168447	0.88[ASN][1000 genomes]
rs62168448	0.88[ASN][1000 genomes]
rs62168454	0.82[ASN][1000 genomes]
rs6736129	0.84[AFR][1000 genomes]
rs6759584	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs72887372	0.82[ASN][1000 genomes]
rs7568115	0.87[ASW][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[ASN][1000 genomes]
rs7600585	0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806894	chr2:171651783-171679041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6755814	SP9	cis	cerebellum	SCAN
rs6755814	NOSTRIN	cis	parietal	SCAN
rs6755814	LRP2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171642400-171669000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:171659200-171668600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:171666000-171669200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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