Variant report

Variant	rs2225803
Chromosome Location	chr6:69745723-69745724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1007921	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12194774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12194946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12213405	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13191563	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[LWK][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13192798	1.00[ASN][1000 genomes]
rs13197569	1.00[CHB][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs13205016	1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs13205140	1.00[CHB][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs13219339	1.00[CHB][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1336634	1.00[JPT][hapmap]
rs1336635	0.90[ASN][1000 genomes]
rs1336636	0.90[ASN][1000 genomes]
rs1336651	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1336655	1.00[ASN][1000 genomes]
rs1384246	1.00[JPT][hapmap]
rs1415029	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1415036	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1482323	1.00[JPT][hapmap]
rs1556756	0.90[ASN][1000 genomes]
rs16900400	1.00[CHB][hapmap]
rs1842743	1.00[JPT][hapmap]
rs1889877	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1889878	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2128290	1.00[JPT][hapmap]
rs2170508	1.00[JPT][hapmap]
rs2170509	1.00[JPT][hapmap]
rs2200088	1.00[JPT][hapmap]
rs2210867	0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2343396	1.00[ASN][1000 genomes]
rs2785576	1.00[JPT][hapmap]
rs2793459	1.00[JPT][hapmap]
rs35797298	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3734465	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3757046	1.00[ASN][1000 genomes]
rs3757047	1.00[ASN][1000 genomes]
rs3757051	1.00[JPT][hapmap]
rs3798980	0.89[CHD][hapmap]
rs3798996	1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[LWK][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs3799002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3799007	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3799016	1.00[ASN][1000 genomes]
rs3799017	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3799021	0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3799023	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3799028	1.00[JPT][hapmap]
rs3799030	1.00[JPT][hapmap]
rs3799039	1.00[JPT][hapmap]
rs3823066	1.00[ASN][1000 genomes]
rs3823067	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4554293	1.00[JPT][hapmap]
rs524359	1.00[JPT][hapmap]
rs557184	1.00[JPT][hapmap]
rs570181	0.83[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs602406	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs62416781	0.85[ASN][1000 genomes]
rs62416803	0.81[ASN][1000 genomes]
rs634695	1.00[JPT][hapmap]
rs635863	1.00[JPT][hapmap]
rs6455309	1.00[JPT][hapmap]
rs653895	1.00[JPT][hapmap]
rs6903686	1.00[CHB][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs6904267	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6908180	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[LWK][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs6930865	1.00[JPT][hapmap]
rs6934473	1.00[CHB][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs764837	0.80[CEU][hapmap]
rs7739849	1.00[JPT][hapmap]
rs7741493	1.00[ASN][1000 genomes]
rs7743332	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7756040	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7756358	1.00[JPT][hapmap]
rs7756637	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7760307	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7761270	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[LWK][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs7764479	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7767118	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs779017	1.00[JPT][hapmap]
rs9342740	1.00[JPT][hapmap]
rs9346261	1.00[JPT][hapmap]
rs9360371	1.00[JPT][hapmap]
rs9360372	1.00[JPT][hapmap]
rs9446085	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9454674	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9454695	1.00[JPT][hapmap]
rs947221	1.00[ASN][1000 genomes]
rs964664	1.00[JPT][hapmap]
rs994381	1.00[JPT][hapmap]

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	nsv886137	chr6:69684850-70095690	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2225803	COL19A1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69685800-69758800	Weak transcription	Fetal Brain Male	brain
2	chr6:69720400-69758600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:69721600-69752200	Weak transcription	Fetal Lung	lung
4	chr6:69729400-69759400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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