Variant report

Variant	rs987764
Chromosome Location	chr5:111688356-111688357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1004383	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1004385	0.98[ASN][1000 genomes]
rs10052915	0.99[ASN][1000 genomes]
rs1019743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1019744	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519600	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962305	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1975017	0.96[ASN][1000 genomes]
rs2042884	0.91[ASN][1000 genomes]
rs2140625	0.99[ASN][1000 genomes]
rs2140626	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2416283	0.99[ASN][1000 genomes]
rs2416284	0.99[ASN][1000 genomes]
rs2839826	0.91[ASN][1000 genomes]
rs366217	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs366951	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs367807	0.97[ASN][1000 genomes]
rs368032	0.92[ASN][1000 genomes]
rs370640	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs373303	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs373583	0.97[ASN][1000 genomes]
rs376395	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs378791	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs382482	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs387117	0.97[ASN][1000 genomes]
rs388091	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs393096	0.87[ASN][1000 genomes]
rs402027	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs406359	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs406444	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs408076	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs408127	0.89[ASN][1000 genomes]
rs424998	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs429580	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs440759	0.95[ASN][1000 genomes]
rs441563	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs442777	0.92[ASN][1000 genomes]
rs442947	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs443024	0.97[ASN][1000 genomes]
rs447144	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4479888	0.85[ASN][1000 genomes]
rs454794	0.95[ASN][1000 genomes]
rs485823	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4958040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61211890	0.81[EUR][1000 genomes]
rs6594591	0.98[ASN][1000 genomes]
rs6861186	0.96[ASN][1000 genomes]
rs6872155	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6877695	0.98[ASN][1000 genomes]
rs7711318	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720180	0.97[ASN][1000 genomes]
rs7720546	0.97[ASN][1000 genomes]
rs7731169	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs821733	0.94[ASN][1000 genomes]
rs821734	0.94[ASN][1000 genomes]
rs821735	0.94[ASN][1000 genomes]
rs821745	0.94[ASN][1000 genomes]
rs821747	0.84[ASN][1000 genomes]
rs987765	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv437471	chr5:111682654-111691924	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111676200-111689000	Weak transcription	Lung	lung
2	chr5:111678400-111689000	Weak transcription	Gastric	stomach
3	chr5:111678600-111695600	Weak transcription	Pancreas	Pancrea
4	chr5:111683800-111689000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:111683800-111689400	Weak transcription	Spleen	Spleen
6	chr5:111684000-111702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:111684800-111688800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:111684800-111689000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:111684800-111689600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:111684800-111689600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:111685000-111689000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:111685000-111689400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:111685000-111689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:111685000-111689800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:111685200-111688800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:111685200-111689800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:111685200-111689800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:111685200-111689800	Weak transcription	Brain Anterior Caudate	brain
19	chr5:111685200-111690600	Weak transcription	GM12878-XiMat	blood
20	chr5:111685200-111707000	Weak transcription	Ovary	ovary
21	chr5:111685200-111709800	Weak transcription	Aorta	Aorta
22	chr5:111685600-111689400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:111685800-111688800	Weak transcription	Left Ventricle	heart
24	chr5:111685800-111693600	Weak transcription	Right Atrium	heart
25	chr5:111686400-111692000	Weak transcription	Right Ventricle	heart
26	chr5:111687200-111693600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:111687600-111690400	Weak transcription	HUVEC	blood vessel
28	chr5:111688200-111689200	Enhancers	Fetal Heart	heart

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