Variant report

Variant	rs2183991
Chromosome Location	chr9:103180135-103180136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:103178586..103181536-chr9:103184754..103186904,2	MCF-7	breast:
2	chr9:103179441..103181859-chr9:103182962..103185659,2	K562	blood:
3	chr9:103179513..103182499-chr9:103189400..103191115,2	K562	blood:

Variant related genes	Relation type
ENSG00000066697	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1000477	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1041565	0.88[ASN][1000 genomes]
rs10465118	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10465145	1.00[ASN][1000 genomes]
rs10465147	1.00[JPT][hapmap]
rs10465148	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10465149	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10512270	0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10512271	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10819770	0.81[CHB][hapmap]
rs10819773	0.82[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10819774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819775	1.00[ASN][1000 genomes]
rs10819776	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10819779	0.87[ASN][1000 genomes]
rs10819781	0.89[ASN][1000 genomes]
rs10819782	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10819785	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs10819786	0.88[ASN][1000 genomes]
rs10819787	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10819788	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10819789	0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs10989078	1.00[JPT][hapmap]
rs10989081	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs10989082	0.83[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10989085	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10989090	0.88[ASN][1000 genomes]
rs10989091	0.90[ASN][1000 genomes]
rs10989092	0.91[ASN][1000 genomes]
rs10989093	0.88[ASN][1000 genomes]
rs10989094	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10989095	0.91[ASN][1000 genomes]
rs10989097	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10989099	0.89[ASN][1000 genomes]
rs10989103	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989105	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs10989107	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989108	0.88[ASN][1000 genomes]
rs10989111	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989112	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989113	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989114	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989115	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989120	0.81[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989123	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989127	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10989130	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10989131	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10989144	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10989145	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10989146	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10989147	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10989150	0.84[JPT][hapmap]
rs10989161	0.84[JPT][hapmap]
rs10989162	0.84[JPT][hapmap]
rs10989163	0.82[JPT][hapmap]
rs10989164	0.82[JPT][hapmap]
rs10989165	0.84[JPT][hapmap]
rs10989167	0.82[JPT][hapmap]
rs10989169	0.82[JPT][hapmap]
rs10989170	0.82[JPT][hapmap]
rs11793014	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs12004257	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12005378	0.80[ASN][1000 genomes]
rs12056981	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12057047	0.88[ASN][1000 genomes]
rs12236071	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12236952	0.88[ASN][1000 genomes]
rs12237166	0.89[ASN][1000 genomes]
rs12237481	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12238560	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1226588	0.85[YRI][hapmap]
rs1226594	0.82[YRI][hapmap]
rs12682741	0.89[ASN][1000 genomes]
rs12683122	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs12683548	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12683889	0.82[JPT][hapmap]
rs12684438	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12684454	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13284428	0.82[YRI][hapmap]
rs13286805	0.88[ASN][1000 genomes]
rs13292589	0.88[ASN][1000 genomes]
rs1332598	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs16919136	0.88[ASN][1000 genomes]
rs16919174	1.00[JPT][hapmap]
rs16919204	0.83[JPT][hapmap]
rs16919211	0.84[JPT][hapmap]
rs1930245	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1930246	0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[ASN][1000 genomes]
rs2026423	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2069236	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2151106	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2183989	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2183990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274881	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2274882	1.00[JPT][hapmap]
rs2780959	0.89[YRI][hapmap]
rs34471402	0.88[ASN][1000 genomes]
rs56122790	1.00[ASN][1000 genomes]
rs56170030	0.88[ASN][1000 genomes]
rs59611728	0.87[ASN][1000 genomes]
rs7024666	0.89[ASN][1000 genomes]
rs7028822	0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7029001	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7031884	0.83[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7034154	0.89[ASN][1000 genomes]
rs7041933	0.89[ASN][1000 genomes]
rs7042669	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7046659	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs7049241	0.88[ASN][1000 genomes]
rs72735107	1.00[ASN][1000 genomes]
rs72735110	1.00[ASN][1000 genomes]
rs72735119	0.87[ASN][1000 genomes]
rs72735122	0.87[ASN][1000 genomes]
rs72735140	0.88[ASN][1000 genomes]
rs7869933	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv825012	chr9:103152205-103256281	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2183991	C9orf30	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103174600-103188800	Weak transcription	Esophagus	oesophagus
2	chr9:103176800-103188000	Weak transcription	K562	blood

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