Variant report

Variant	rs17689037
Chromosome Location	chr8:9974858-9974859
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	chr8:9968733..9972257-chr8:9973876..9975676,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10092905	1.00[JPT][hapmap]
rs10097035	1.00[JPT][hapmap]
rs10101206	1.00[JPT][hapmap]
rs11985767	1.00[JPT][hapmap]
rs11988049	1.00[JPT][hapmap]
rs11988116	1.00[JPT][hapmap]
rs11998467	1.00[JPT][hapmap]
rs12678797	0.85[MEX][hapmap];0.86[AMR][1000 genomes]
rs12678800	0.86[AMR][1000 genomes]
rs13252589	0.85[CEU][hapmap]
rs13254175	0.85[MEX][hapmap];0.86[AMR][1000 genomes]
rs13259465	0.81[AMR][1000 genomes]
rs13264586	0.81[AMR][1000 genomes]
rs13272793	0.81[CEU][hapmap]
rs13279701	0.81[CEU][hapmap]
rs13282106	0.80[AMR][1000 genomes]
rs1351876	0.85[MEX][hapmap];0.84[AMR][1000 genomes]
rs1484641	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs17689007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17689289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17689674	0.81[AMR][1000 genomes]
rs17690549	0.81[CEU][hapmap]
rs17746227	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs17746245	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs17747335	0.85[CEU][hapmap]
rs2062331	0.80[MEX][hapmap];0.83[AMR][1000 genomes]
rs2062332	0.84[AMR][1000 genomes]
rs34990153	0.87[AMR][1000 genomes]
rs3885723	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4841282	0.85[AMR][1000 genomes]
rs55683917	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60384372	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601414	0.85[AMR][1000 genomes]
rs6601415	0.85[AMR][1000 genomes]
rs6983332	0.85[MEX][hapmap];0.86[AMR][1000 genomes]
rs6985941	0.92[CEU][hapmap];0.80[AMR][1000 genomes]
rs6986885	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6986911	0.84[MEX][hapmap];0.86[AMR][1000 genomes]
rs6995837	0.86[AMR][1000 genomes]
rs6995859	0.86[AMR][1000 genomes]
rs7821075	1.00[JPT][hapmap]
rs7843924	0.86[AMR][1000 genomes]
rs9693546	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17689037	MFHAS1	cis	cerebellum	SCAN
rs17689037	CLDN23	cis	multi-tissue	Pritchard
rs17689037	PRSS55	cis	cerebellum	SCAN
rs17689037	MSRA	cis	lymphoblastoid	seeQTL
rs17689037	CTSB	cis	cerebellum	SCAN
rs17689037	FLJ10661	cis	cerebellum	SCAN
rs17689037	PPP1R3B	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9966000-9975800	Weak transcription	Right Atrium	heart
2	chr8:9967200-9975800	Weak transcription	Fetal Brain Male	brain
3	chr8:9967200-9977400	Weak transcription	Fetal Brain Female	brain
4	chr8:9970600-9995800	Weak transcription	Pancreas	Pancrea
5	chr8:9973200-9976800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:9974400-9979600	Weak transcription	Esophagus	oesophagus

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