Variant report

Variant	rs11264387
Chromosome Location	chr1:155563152-155563153
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155561838..155563770-chr1:155565772..155568084,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10752611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10796943	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes]
rs10796945	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs10796946	0.82[AMR][1000 genomes]
rs10796947	0.82[ASN][1000 genomes]
rs10908465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs10908466	0.82[AMR][1000 genomes]
rs10908469	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs10908470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10908471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10908472	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10908479	0.96[CEU][hapmap];0.81[CHB][hapmap];0.91[EUR][1000 genomes]
rs10908481	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs11264371	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap]
rs11264372	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap]
rs11264374	0.80[AMR][1000 genomes]
rs11264375	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs11264380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11264381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11264383	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11264386	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11264393	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11264397	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11264398	0.94[EUR][1000 genomes]
rs11582072	0.82[ASN][1000 genomes]
rs12022088	0.94[EUR][1000 genomes]
rs12026638	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs12028416	0.81[AMR][1000 genomes]
rs12030596	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12035524	0.80[CEU][hapmap];0.88[GIH][hapmap];0.83[MKK][hapmap]
rs12039893	0.94[EUR][1000 genomes]
rs12040100	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12041534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs12047626	0.89[EUR][1000 genomes]
rs12047756	0.81[CHB][hapmap];0.93[EUR][1000 genomes]
rs12048286	0.80[EUR][1000 genomes]
rs12079134	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs12091730	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12093350	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12143948	1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap]
rs12239100	0.81[AMR][1000 genomes]
rs12724079	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs12740629	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12744132	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs12746592	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12758945	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1325908	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap]
rs1360554	1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs1556488	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap]
rs1886905	0.96[CEU][hapmap];0.84[CHB][hapmap];0.89[TSI][hapmap]
rs2048431	0.96[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs2175391	0.96[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs34124416	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34620961	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs348186	0.89[EUR][1000 genomes]
rs348196	0.80[CEU][hapmap];0.88[GIH][hapmap]
rs35615695	1.00[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.84[ASN][1000 genomes]
rs3738590	0.96[CEU][hapmap];0.80[CHB][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3851912	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3892792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4550031	0.83[EUR][1000 genomes]
rs475550	0.96[CEU][hapmap];0.91[GIH][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs4971095	0.94[EUR][1000 genomes]
rs6427278	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs644853	0.83[JPT][hapmap]
rs6672128	0.91[EUR][1000 genomes]
rs6684889	0.89[CHB][hapmap]
rs6688636	1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.82[ASN][1000 genomes]
rs6696888	1.00[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs670876	0.80[CEU][hapmap]
rs678157	0.80[CEU][hapmap]
rs7411786	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7521594	0.91[EUR][1000 genomes]
rs7556102	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs821551	0.84[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11264387	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs11264387	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs11264387	GBA	cis	Esophagus Mucosa	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155534600-155565800	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:155534800-155565600	Weak transcription	Brain Angular Gyrus	brain
3	chr1:155534800-155568400	Weak transcription	Thymus	Thymus
4	chr1:155535000-155570400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:155535400-155564000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:155540400-155565800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:155541400-155569000	Weak transcription	HSMMtube	muscle
8	chr1:155541600-155565600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:155541600-155565600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:155541600-155568400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:155542000-155565600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:155554000-155566400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:155557200-155568600	Weak transcription	NHEK	skin
14	chr1:155558400-155568600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:155559000-155568800	Weak transcription	HSMM	muscle
16	chr1:155559200-155565600	Weak transcription	Fetal Brain Female	brain
17	chr1:155560600-155565800	Weak transcription	Brain Anterior Caudate	brain
18	chr1:155560600-155568400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:155560600-155568400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:155560600-155570400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:155561000-155568800	Weak transcription	Lung	lung
22	chr1:155561200-155568400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:155561200-155568600	Weak transcription	Fetal Stomach	stomach
24	chr1:155561400-155568200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:155562000-155564200	Weak transcription	Brain Germinal Matrix	brain
26	chr1:155562200-155565600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:155562200-155570200	Weak transcription	Hela-S3	cervix

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