Variant report

Variant	rs9467784
Chromosome Location	chr6:26547742-26547743
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26541650..26546578-chr6:26547247..26553909,5	MCF-7	breast:
2	chr6:26546606..26549431-chr6:26551498..26554971,7	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1001687	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10214634	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10223789	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10223792	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10484442	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1056347	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1056667	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1056668	0.85[EUR][1000 genomes]
rs1078679	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10946834	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10946835	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10946837	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11752946	0.91[EUR][1000 genomes]
rs11754138	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11756120	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12526680	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12663883	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12663894	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12665431	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1321479	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1321480	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1321481	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1321482	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1535276	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1535277	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1570059	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1570060	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1570061	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1884946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884947	0.92[EUR][1000 genomes]
rs1884948	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1884949	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1977201	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2208331	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2224380	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2255070	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393669	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2393670	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28558133	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35355150	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3736781	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736782	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3757151	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4368798	0.81[AFR][1000 genomes]
rs4573	0.94[EUR][1000 genomes]
rs4713006	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4713008	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55930917	0.90[EUR][1000 genomes]
rs6456733	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6456734	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6456735	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6903973	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6909277	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6910899	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6910930	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6913398	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913462	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6913877	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6918360	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6918506	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6918854	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6922824	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6924838	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6924865	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6925703	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6925783	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6925895	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6926629	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6930120	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6932156	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6932350	0.90[EUR][1000 genomes]
rs6932865	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933176	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940053	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6940188	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6941022	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs767471	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7753565	0.83[EUR][1000 genomes]
rs9295694	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295695	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295698	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9357010	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9358952	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9358954	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9379887	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9393728	0.84[AMR][1000 genomes]
rs9393729	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393731	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393732	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9461259	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9461267	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461271	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9461272	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9461275	0.81[AFR][1000 genomes]
rs9467773	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9467774	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9467775	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9467776	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9467778	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9467779	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9467782	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467787	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9467791	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9467796	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9467797	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9467798	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9467799	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9467800	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9467802	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9467805	0.81[AFR][1000 genomes]
rs9986382	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers 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	1215 gene(s)	inside rSNPs	diseases
3	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9467784	ZNF322	cis	Nerve Tibial	GTEx
rs9467784	HMGN4	cis	Whole Blood	GTEx
rs9467784	HCG11	Cis_1M	lymphoblastoid	RTeQTL
rs9467784	HMGN4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26539200-26550600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:26539400-26550600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:26539600-26549800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:26539600-26550400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:26539600-26550400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:26539600-26550400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:26539600-26550600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:26539600-26553000	Weak transcription	Fetal Heart	heart
9	chr6:26539800-26550400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:26539800-26550400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:26539800-26550800	Weak transcription	Pancreas	Pancrea
12	chr6:26540000-26550800	Weak transcription	Lung	lung
13	chr6:26540200-26550000	Weak transcription	Fetal Kidney	kidney
14	chr6:26540200-26550400	Weak transcription	Colonic Mucosa	Colon
15	chr6:26540400-26548000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:26540400-26550000	Weak transcription	Stomach Mucosa	stomach
17	chr6:26540400-26550400	Weak transcription	Brain Angular Gyrus	brain
18	chr6:26540400-26550400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:26540400-26550600	Weak transcription	Brain Substantia Nigra	brain
20	chr6:26540600-26548800	Weak transcription	Fetal Brain Male	brain
21	chr6:26540600-26550000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:26540600-26550000	Weak transcription	Small Intestine	intestine
23	chr6:26542000-26550600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:26542200-26550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:26543200-26550400	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:26545200-26548400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr6:26545800-26550000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:26545800-26550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:26545800-26550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:26546000-26550200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:26546000-26550200	Weak transcription	HSMMtube	muscle
32	chr6:26546200-26550000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:26546200-26550000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:26546200-26550000	Weak transcription	Fetal Stomach	stomach
35	chr6:26546200-26550200	Weak transcription	Brain Anterior Caudate	brain
36	chr6:26546200-26550200	Weak transcription	Fetal Intestine Small	intestine
37	chr6:26546200-26550200	Weak transcription	Thymus	Thymus
38	chr6:26546200-26550200	Weak transcription	HUVEC	blood vessel
39	chr6:26546200-26550400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr6:26546200-26550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:26546200-26550400	Weak transcription	Esophagus	oesophagus
42	chr6:26546200-26550400	Weak transcription	Left Ventricle	heart
43	chr6:26546200-26550400	Weak transcription	HepG2	liver
44	chr6:26546200-26550400	Weak transcription	NHDF-Ad	bronchial
45	chr6:26546200-26550600	Weak transcription	Aorta	Aorta
46	chr6:26546200-26550800	Weak transcription	Gastric	stomach
47	chr6:26546400-26550000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:26546400-26550200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:26546400-26550200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr6:26546400-26550200	Weak transcription	Primary T cells from cord blood	blood

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