Variant report

Variant	rs6659137
Chromosome Location	chr1:210730522-210730523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210728277..210730776-chr1:210738043..210739547,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11119530	1.00[ASN][1000 genomes]
rs11119533	1.00[ASN][1000 genomes]
rs11119534	1.00[ASN][1000 genomes]
rs11119541	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs11583167	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584633	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585911	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808209	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12040304	0.85[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs12121717	1.00[ASN][1000 genomes]
rs12122988	1.00[ASN][1000 genomes]
rs12126287	1.00[ASN][1000 genomes]
rs12127018	1.00[ASN][1000 genomes]
rs12127170	1.00[ASN][1000 genomes]
rs12127932	1.00[ASN][1000 genomes]
rs12129347	1.00[ASN][1000 genomes]
rs12129382	1.00[ASN][1000 genomes]
rs12136151	1.00[ASN][1000 genomes]
rs12136768	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1343876	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188337	1.00[ASN][1000 genomes]
rs17260515	1.00[ASN][1000 genomes]
rs17260522	1.00[ASN][1000 genomes]
rs17260529	1.00[ASN][1000 genomes]
rs1892471	1.00[ASN][1000 genomes]
rs1892472	1.00[ASN][1000 genomes]
rs1892473	1.00[ASN][1000 genomes]
rs58599805	1.00[ASN][1000 genomes]
rs59289142	1.00[ASN][1000 genomes]
rs59525134	1.00[ASN][1000 genomes]
rs60629769	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828096	1.00[ASN][1000 genomes]
rs61828123	1.00[ASN][1000 genomes]
rs61828129	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828131	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828132	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680553	1.00[ASN][1000 genomes]
rs6685262	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72749373	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv549106	chr1:210698719-210736508	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1011702	chr1:210706323-210739030	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1003105	chr1:210717288-210739030	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1014480	chr1:210717288-210743026	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6659137	OR8G5	trans	cerebellum	SCAN
rs6659137	LOC642587	cis	parietal	SCAN
rs6659137	CRB1	trans	cerebellum	SCAN
rs6659137	LGTN	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210680600-210731000	Weak transcription	HSMM	muscle
2	chr1:210715600-210730800	Weak transcription	HSMMtube	muscle
3	chr1:210722000-210731800	Weak transcription	Right Ventricle	heart
4	chr1:210728000-210731200	Weak transcription	Gastric	stomach
5	chr1:210729600-210730600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:210729800-210730800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:210730000-210742400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:210730200-210730600	Weak transcription	K562	blood

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