Variant report

Variant	rs731695
Chromosome Location	chr6:118588490-118588491
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	chr6:118580067..118582509-chr6:118587537..118590016,2	K562	blood:
2	chr6:118587825..118590155-chr6:118594308..118596431,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11758375	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11758402	0.81[ASN][1000 genomes]
rs11968293	0.94[CHB][hapmap];0.85[YRI][hapmap]
rs12212582	0.82[CHB][hapmap]
rs1572226	0.94[CHB][hapmap];0.86[CHD][hapmap];0.85[YRI][hapmap]
rs17079898	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2065021	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs281861	0.82[CHB][hapmap]
rs281867	0.82[CHB][hapmap]
rs281868	0.92[CEU][hapmap];0.88[CHB][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs283040	0.81[CHB][hapmap]
rs283042	0.82[CHB][hapmap]
rs283044	0.82[CHB][hapmap]
rs283045	0.82[CHB][hapmap]
rs283046	0.82[CHB][hapmap]
rs283049	0.82[CHB][hapmap]
rs283050	0.82[CHB][hapmap]
rs283062	0.82[CHB][hapmap]
rs283077	0.96[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs283080	0.81[ASN][1000 genomes]
rs283081	0.88[CHB][hapmap];0.86[MEX][hapmap];0.81[ASN][1000 genomes]
rs283082	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs283084	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs283085	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs283086	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs283087	0.83[ASN][1000 genomes]
rs283088	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs283091	0.88[CHB][hapmap];0.86[MEX][hapmap];0.86[ASN][1000 genomes]
rs372237	0.82[CHB][hapmap];0.86[MEX][hapmap];0.82[ASN][1000 genomes]
rs376875	0.82[CHB][hapmap]
rs3951016	0.81[EUR][1000 genomes]
rs397445	0.82[CHB][hapmap]
rs399844	0.82[CHB][hapmap]
rs419592	0.82[CHB][hapmap]
rs422833	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs4294041	0.84[ASN][1000 genomes]
rs431115	0.82[CHB][hapmap]
rs445566	0.82[CHB][hapmap]
rs447193	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs4946333	0.92[CEU][hapmap];0.88[CHB][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4946336	0.82[CHB][hapmap]
rs55697000	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6569009	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6912208	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6927800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72965660	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7452622	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7749263	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs89107	0.92[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs927348	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9401060	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9489327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1030089	chr6:118436482-118604516	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538427	chr6:118436482-118604516	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs731695	C6orf204	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118585600-118588800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:118585600-118590000	Weak transcription	Brain Germinal Matrix	brain
3	chr6:118586000-118589200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:118586200-118601400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:118587400-118588800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:118587800-118588800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:118588400-118589400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:118588400-118589400	Weak transcription	Pancreas	Pancrea

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