Variant report

Variant	rs4356848
Chromosome Location	chr3:51137089-51137090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10433609	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10865962	0.94[CEU][hapmap]
rs11130267	0.82[ASW][hapmap];0.94[CEU][hapmap]
rs11130280	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.89[ASN][1000 genomes]
rs11130286	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs11706571	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs11715556	0.94[CEU][hapmap]
rs11919932	0.94[CEU][hapmap]
rs12488948	0.82[CHD][hapmap]
rs12491206	0.81[CHD][hapmap]
rs12494165	0.88[ASW][hapmap];0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs12496621	0.82[CHD][hapmap]
rs13061003	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs13062018	0.94[CEU][hapmap]
rs13064199	0.94[CEU][hapmap]
rs13069365	0.82[CEU][hapmap]
rs13079136	0.94[CEU][hapmap]
rs13079565	0.94[CEU][hapmap]
rs13080170	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13085827	0.94[CEU][hapmap]
rs13086922	0.94[CEU][hapmap]
rs13093289	0.94[CEU][hapmap]
rs13324500	0.94[CEU][hapmap]
rs1480360	0.94[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap]
rs1480362	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1480364	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs2061950	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs2170178	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs2219891	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs2355943	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs28708817	0.86[ASN][1000 genomes]
rs28810453	0.84[ASN][1000 genomes]
rs2883809	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.86[ASN][1000 genomes]
rs34628582	0.94[CEU][hapmap]
rs35356497	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3856932	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4078296	0.81[CHD][hapmap]
rs4132022	0.87[CEU][hapmap]
rs4244696	0.94[CEU][hapmap]
rs4244704	0.94[CEU][hapmap]
rs4263323	0.94[CEU][hapmap]
rs4267675	0.94[CEU][hapmap]
rs4286453	0.94[CEU][hapmap]
rs4309763	0.94[CEU][hapmap]
rs4323036	0.82[CHD][hapmap]
rs4353834	0.81[EUR][1000 genomes]
rs4364203	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4367100	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.90[TSI][hapmap];0.86[ASN][1000 genomes]
rs4373098	0.94[CEU][hapmap]
rs4377512	0.94[CEU][hapmap]
rs4434173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438692	0.94[CEU][hapmap]
rs4443210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4446244	0.94[CEU][hapmap]
rs4475072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs4478114	0.94[CEU][hapmap]
rs4488874	0.94[CEU][hapmap]
rs4505743	0.94[CEU][hapmap]
rs4511931	0.94[CEU][hapmap]
rs4511933	0.94[CEU][hapmap]
rs4530566	0.94[CEU][hapmap]
rs4555554	0.93[CEU][hapmap]
rs4560329	0.94[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4566574	0.94[CEU][hapmap]
rs4572801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4582086	0.94[CEU][hapmap]
rs4586853	0.94[CEU][hapmap]
rs4589968	0.94[CEU][hapmap]
rs4615113	0.94[CEU][hapmap]
rs4927960	0.94[CEU][hapmap]
rs4927961	0.82[CHD][hapmap]
rs4927969	0.89[ASN][1000 genomes]
rs4927970	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4927973	0.86[ASN][1000 genomes]
rs4927978	0.94[CEU][hapmap]
rs4927983	0.94[CEU][hapmap]
rs4974092	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs4974094	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs4974099	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs6445501	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6445549	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.86[ASN][1000 genomes]
rs6445600	0.94[CEU][hapmap]
rs6445601	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs6445604	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs6445717	0.94[CEU][hapmap]
rs6445750	0.94[CEU][hapmap]
rs6445779	0.94[CEU][hapmap]
rs6445802	0.91[CEU][hapmap]
rs6446011	0.94[CEU][hapmap]
rs6446118	0.94[CEU][hapmap]
rs6446167	0.94[CEU][hapmap]
rs6446168	0.94[CEU][hapmap]
rs6446243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6446245	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6768601	0.94[CEU][hapmap]
rs6771085	0.94[CEU][hapmap]
rs6772197	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6784455	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.87[ASN][1000 genomes]
rs6787773	0.94[CEU][hapmap]
rs6787805	0.94[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6793613	0.94[CEU][hapmap]
rs6793648	0.94[CEU][hapmap]
rs6795272	0.88[ASW][hapmap];0.94[CEU][hapmap]
rs6796642	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6796847	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs6799722	0.86[ASN][1000 genomes]
rs6800279	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6810241	0.94[CEU][hapmap]
rs7428086	0.94[CEU][hapmap]
rs7429035	0.94[CEU][hapmap]
rs7433217	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs7611873	0.94[CEU][hapmap]
rs7614171	0.94[CEU][hapmap]
rs7614317	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7614482	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs7614881	0.82[ASW][hapmap];0.94[CEU][hapmap]
rs7615291	0.94[CEU][hapmap]
rs7616967	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs7618173	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7627266	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap]
rs7629420	0.94[CEU][hapmap]
rs7629433	0.94[CEU][hapmap]
rs7634799	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7638732	0.88[ASW][hapmap];0.94[CEU][hapmap]
rs7640263	0.93[CEU][hapmap]
rs7651141	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7652655	0.94[CEU][hapmap]
rs7652818	0.94[CEU][hapmap]
rs7653451	0.94[CEU][hapmap]
rs899750	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap]
rs9682672	0.94[CEU][hapmap]
rs9713241	0.93[CEU][hapmap]
rs9758600	0.91[CEU][hapmap]
rs9815781	0.87[ASN][1000 genomes]
rs9823942	0.94[CEU][hapmap]
rs9828200	0.94[CEU][hapmap]
rs9832672	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs9837334	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9839484	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9844581	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9847479	0.89[ASN][1000 genomes]
rs9850021	0.94[CEU][hapmap]
rs9856566	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9857727	0.94[CEU][hapmap]
rs9860403	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs9865363	0.81[EUR][1000 genomes]
rs9865532	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9868870	0.94[CEU][hapmap]
rs995543	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]

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	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv3447639	chr3:51129523-51158383	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4356848	HEMK1	cis	Lymphoblastoid	GTEx
rs4356848	HEMK1	cis	cerebellum	SCAN
rs4356848	TNNC1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51120800-51143000	Weak transcription	Brain Angular Gyrus	brain
2	chr3:51121000-51143000	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:51121000-51145200	Weak transcription	Fetal Brain Male	brain
4	chr3:51122000-51143000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:51122800-51143000	Weak transcription	Fetal Brain Female	brain
6	chr3:51124200-51143000	Weak transcription	Brain Germinal Matrix	brain
7	chr3:51125400-51143000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:51125400-51143200	Weak transcription	Brain Substantia Nigra	brain
9	chr3:51128200-51143800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:51128400-51142800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:51129600-51143200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:51129800-51137200	Weak transcription	Stomach Mucosa	stomach
13	chr3:51129800-51143600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:51132600-51143800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:51135000-51137200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:51135000-51143800	Weak transcription	Brain Anterior Caudate	brain
17	chr3:51135600-51142600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:51136600-51137800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr3:51136800-51139000	Weak transcription	Fetal Lung	lung
20	chr3:51137000-51137800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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