Variant report

Variant	rs9324380
Chromosome Location	chr1:98461132-98461133
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:98459726..98461591-chr1:98462262..98464226,2	K562	blood:

Extended variants
information (count: 215 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:210)

rs_ID	r²[population]
rs10747488	0.82[JPT][hapmap]
rs10747489	0.85[JPT][hapmap]
rs10747491	1.00[JPT][hapmap]
rs10747492	1.00[JPT][hapmap]
rs10747495	1.00[ASN][1000 genomes]
rs10747496	1.00[ASN][1000 genomes]
rs10783082	1.00[ASN][1000 genomes]
rs10875112	1.00[JPT][hapmap]
rs10875113	1.00[JPT][hapmap]
rs10875118	1.00[JPT][hapmap]
rs10875121	0.90[ASN][1000 genomes]
rs10875125	1.00[ASN][1000 genomes]
rs11165920	1.00[JPT][hapmap]
rs11165921	1.00[JPT][hapmap]
rs11165934	0.85[ASN][1000 genomes]
rs11165935	0.90[ASN][1000 genomes]
rs11165937	0.90[ASN][1000 genomes]
rs11165938	0.85[ASN][1000 genomes]
rs11165939	0.85[ASN][1000 genomes]
rs11165940	0.85[ASN][1000 genomes]
rs1198571	1.00[ASN][1000 genomes]
rs1198572	1.00[ASN][1000 genomes]
rs1198573	1.00[ASN][1000 genomes]
rs1198574	1.00[ASN][1000 genomes]
rs1198575	0.93[ASN][1000 genomes]
rs1198576	0.93[ASN][1000 genomes]
rs1198577	0.93[ASN][1000 genomes]
rs1198578	0.93[ASN][1000 genomes]
rs1198579	0.93[ASN][1000 genomes]
rs1198580	0.93[ASN][1000 genomes]
rs1198581	0.93[ASN][1000 genomes]
rs1198582	0.93[ASN][1000 genomes]
rs1198583	0.93[ASN][1000 genomes]
rs1198588	0.93[ASN][1000 genomes]
rs1198589	0.93[ASN][1000 genomes]
rs1198590	0.93[ASN][1000 genomes]
rs1198591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1198592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1198593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1198594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1198596	0.93[ASN][1000 genomes]
rs1198598	0.93[ASN][1000 genomes]
rs1198600	0.93[ASN][1000 genomes]
rs12062845	1.00[JPT][hapmap]
rs12067567	0.85[ASN][1000 genomes]
rs12067700	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12068763	0.85[ASN][1000 genomes]
rs12069474	0.85[ASN][1000 genomes]
rs12071067	0.85[ASN][1000 genomes]
rs12077442	1.00[JPT][hapmap]
rs1211661	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12406713	1.00[JPT][hapmap]
rs1622611	0.93[ASN][1000 genomes]
rs1628294	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1702291	0.93[ASN][1000 genomes]
rs1702292	0.93[ASN][1000 genomes]
rs1702293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1702294	1.00[ASN][1000 genomes]
rs17379561	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1782810	1.00[ASN][1000 genomes]
rs1782811	1.00[ASN][1000 genomes]
rs1782812	0.93[ASN][1000 genomes]
rs1782813	1.00[ASN][1000 genomes]
rs1782815	1.00[ASN][1000 genomes]
rs1782818	0.93[ASN][1000 genomes]
rs1801265	1.00[JPT][hapmap]
rs1892549	1.00[ASN][1000 genomes]
rs1892550	1.00[ASN][1000 genomes]
rs1892551	1.00[ASN][1000 genomes]
rs1892552	1.00[ASN][1000 genomes]
rs1938558	1.00[ASN][1000 genomes]
rs1938559	1.00[ASN][1000 genomes]
rs1938560	1.00[ASN][1000 genomes]
rs1938561	1.00[ASN][1000 genomes]
rs1938562	1.00[ASN][1000 genomes]
rs1938563	0.86[ASN][1000 genomes]
rs1938564	1.00[ASN][1000 genomes]
rs1938565	1.00[ASN][1000 genomes]
rs1938566	0.93[ASN][1000 genomes]
rs1938567	1.00[ASN][1000 genomes]
rs1938568	1.00[ASN][1000 genomes]
rs1938569	1.00[ASN][1000 genomes]
rs1938571	1.00[ASN][1000 genomes]
rs1938572	0.88[ASN][1000 genomes]
rs1938573	0.82[ASN][1000 genomes]
rs2022864	0.93[ASN][1000 genomes]
rs2022865	1.00[ASN][1000 genomes]
rs2154402	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154403	1.00[ASN][1000 genomes]
rs2391873	1.00[ASN][1000 genomes]
rs2391902	1.00[ASN][1000 genomes]
rs2391903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391904	1.00[ASN][1000 genomes]
rs2391905	0.97[ASN][1000 genomes]
rs2660298	0.93[ASN][1000 genomes]
rs2660299	0.93[ASN][1000 genomes]
rs2660300	0.93[ASN][1000 genomes]
rs2660301	0.93[ASN][1000 genomes]
rs2660303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2660304	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2802525	0.93[ASN][1000 genomes]
rs2802529	0.93[ASN][1000 genomes]
rs2802530	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802531	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802532	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802533	0.93[ASN][1000 genomes]
rs2802535	0.96[ASN][1000 genomes]
rs2802536	0.93[ASN][1000 genomes]
rs28582591	0.90[ASN][1000 genomes]
rs28641479	0.90[ASN][1000 genomes]
rs2893376	1.00[ASN][1000 genomes]
rs41285694	0.93[ASN][1000 genomes]
rs4245673	1.00[ASN][1000 genomes]
rs4246515	1.00[JPT][hapmap]
rs4246516	0.90[ASN][1000 genomes]
rs4274102	0.81[ASN][1000 genomes]
rs4292998	1.00[ASN][1000 genomes]
rs4322261	0.84[ASN][1000 genomes]
rs4372296	1.00[JPT][hapmap]
rs4379706	1.00[JPT][hapmap]
rs4394693	1.00[JPT][hapmap]
rs4394694	1.00[JPT][hapmap]
rs4411173	1.00[ASN][1000 genomes]
rs4421623	0.82[JPT][hapmap]
rs4423049	1.00[JPT][hapmap]
rs4447033	0.86[ASN][1000 genomes]
rs4456128	1.00[JPT][hapmap]
rs4477335	1.00[ASN][1000 genomes]
rs4480407	1.00[ASN][1000 genomes]
rs4506495	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4523551	1.00[JPT][hapmap]
rs4523552	0.85[JPT][hapmap]
rs45522136	0.83[ASN][1000 genomes]
rs4573558	1.00[ASN][1000 genomes]
rs4584446	1.00[ASN][1000 genomes]
rs4598523	1.00[JPT][hapmap]
rs4634961	1.00[ASN][1000 genomes]
rs4950117	1.00[ASN][1000 genomes]
rs4950118	1.00[ASN][1000 genomes]
rs4950119	1.00[ASN][1000 genomes]
rs4950120	1.00[ASN][1000 genomes]
rs4970722	1.00[JPT][hapmap]
rs5005705	1.00[ASN][1000 genomes]
rs56732321	0.85[ASN][1000 genomes]
rs57468345	0.85[ASN][1000 genomes]
rs61785881	0.90[ASN][1000 genomes]
rs61785882	0.83[ASN][1000 genomes]
rs61785883	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61785886	0.97[ASN][1000 genomes]
rs61785887	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61785888	1.00[ASN][1000 genomes]
rs61785889	1.00[AFR][1000 genomes]
rs61785940	1.00[AFR][1000 genomes]
rs61786606	1.00[AFR][1000 genomes]
rs61786610	1.00[AFR][1000 genomes]
rs61786696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61786697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61787781	1.00[AFR][1000 genomes]
rs61787783	1.00[AFR][1000 genomes]
rs61787824	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61787827	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61787828	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61787829	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61787830	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61789073	1.00[AFR][1000 genomes]
rs61789075	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61789077	0.90[ASN][1000 genomes]
rs61789078	0.90[ASN][1000 genomes]
rs61789079	0.90[ASN][1000 genomes]
rs61789082	0.90[ASN][1000 genomes]
rs6604093	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6664489	0.85[ASN][1000 genomes]
rs6677116	1.00[JPT][hapmap]
rs6692580	1.00[JPT][hapmap]
rs6703588	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs72963738	0.90[ASN][1000 genomes]
rs7418577	1.00[JPT][hapmap]
rs7524038	1.00[JPT][hapmap]
rs7526108	0.82[JPT][hapmap]
rs9285628	0.90[ASN][1000 genomes]
rs9324378	0.85[ASN][1000 genomes]
rs9324379	0.90[ASN][1000 genomes]
rs9324381	1.00[ASN][1000 genomes]
rs9324382	1.00[ASN][1000 genomes]
rs9324383	1.00[ASN][1000 genomes]
rs9324384	1.00[ASN][1000 genomes]
rs9324385	1.00[ASN][1000 genomes]
rs9324386	1.00[ASN][1000 genomes]
rs9324387	1.00[ASN][1000 genomes]
rs9324388	1.00[ASN][1000 genomes]
rs9324389	1.00[ASN][1000 genomes]
rs9440288	1.00[ASN][1000 genomes]
rs9440293	1.00[ASN][1000 genomes]
rs9440393	1.00[ASN][1000 genomes]
rs9658841	1.00[ASN][1000 genomes]
rs9659380	0.90[ASN][1000 genomes]
rs9659624	1.00[ASN][1000 genomes]
rs9659996	0.93[ASN][1000 genomes]
rs9661157	1.00[ASN][1000 genomes]
rs9661794	1.00[JPT][hapmap]
rs9662719	1.00[JPT][hapmap]
rs9662870	1.00[JPT][hapmap]
rs9724773	1.00[ASN][1000 genomes]
rs9725319	1.00[ASN][1000 genomes]
rs9727548	1.00[JPT][hapmap]
rs9727941	1.00[ASN][1000 genomes]
rs9727976	1.00[JPT][hapmap]
rs9729190	0.85[ASN][1000 genomes]
rs9887831	0.85[ASN][1000 genomes]
rs9887848	0.85[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	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv871230	chr1:98436232-98564736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9324380	PTBP2	cis	cerebellum	SCAN
rs9324380	SNX7	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98440200-98462000	Weak transcription	NHDF-Ad	bronchial
2	chr1:98452800-98462000	Weak transcription	HUVEC	blood vessel
3	chr1:98455200-98470600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:98455600-98463600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:98455600-98463600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:98455800-98462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:98456000-98462400	Weak transcription	A549	lung
8	chr1:98459600-98461200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:98459800-98461400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:98460600-98462200	Weak transcription	HSMM	muscle

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