Variant report

Variant	rs6479416
Chromosome Location	chr9:95053871-95053872
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95052267..95059743-chr9:95085805..95090654,23	MCF-7	breast:
2	chr9:94881159..94883688-chr9:95052555..95054095,2	K562	blood:
3	chr9:95012889..95016491-chr9:95052350..95055798,4	K562	blood:
4	chr9:95013416..95016060-chr9:95050804..95054328,4	K562	blood:
5	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:
6	chr9:95052930..95062724-chr9:95083607..95090664,16	MCF-7	breast:
7	chr9:95003397..95005794-chr9:95052449..95054118,2	K562	blood:
8	chr9:95041855..95050591-chr9:95053528..95058799,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196305	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000188312	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10115222	0.88[EUR][1000 genomes]
rs10115290	0.89[ASN][1000 genomes]
rs10116241	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10117627	0.88[ASN][1000 genomes]
rs10120980	0.89[EUR][1000 genomes]
rs10121495	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10123342	0.90[EUR][1000 genomes]
rs10125474	0.88[EUR][1000 genomes]
rs10283572	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10429459	0.87[ASN][1000 genomes]
rs10453241	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10514815	0.87[ASN][1000 genomes]
rs1053441	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1053446	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10739927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739928	0.90[EUR][1000 genomes]
rs10761147	0.87[EUR][1000 genomes]
rs10761150	0.88[EUR][1000 genomes]
rs10761151	0.88[EUR][1000 genomes]
rs10761153	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10761154	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10761158	0.90[ASN][1000 genomes]
rs10761161	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10820960	0.88[EUR][1000 genomes]
rs10820961	0.88[EUR][1000 genomes]
rs10820964	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10820965	0.90[EUR][1000 genomes]
rs10820966	0.89[EUR][1000 genomes]
rs10820967	0.88[EUR][1000 genomes]
rs10820969	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10820971	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10992273	0.86[EUR][1000 genomes]
rs10992280	0.88[EUR][1000 genomes]
rs10992291	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992303	0.90[EUR][1000 genomes]
rs10992319	0.88[EUR][1000 genomes]
rs10992322	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10992340	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992347	0.90[ASN][1000 genomes]
rs1121979	0.86[EUR][1000 genomes]
rs1133908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789163	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11792342	0.83[EUR][1000 genomes]
rs11795122	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12343820	0.88[ASN][1000 genomes]
rs12348488	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12353096	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535754	0.90[ASN][1000 genomes]
rs1924243	0.90[ASN][1000 genomes]
rs1924244	0.88[ASN][1000 genomes]
rs2007837	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2025388	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2151618	0.85[EUR][1000 genomes]
rs2236341	0.88[EUR][1000 genomes]
rs2273862	0.88[EUR][1000 genomes]
rs2274966	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2295941	0.88[EUR][1000 genomes]
rs2296666	0.86[ASN][1000 genomes]
rs2296667	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2516567	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2516568	0.82[EUR][1000 genomes]
rs2761679	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2761681	0.82[EUR][1000 genomes]
rs3118008	0.91[ASN][1000 genomes]
rs3739606	0.88[ASN][1000 genomes]
rs3758229	0.90[EUR][1000 genomes]
rs3780347	0.87[ASN][1000 genomes]
rs4744133	0.90[ASN][1000 genomes]
rs4744134	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4744135	0.87[ASN][1000 genomes]
rs4744136	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6479417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479418	0.90[EUR][1000 genomes]
rs6479419	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6479420	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6479423	0.86[ASN][1000 genomes]
rs7020874	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7023004	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7024190	0.88[EUR][1000 genomes]
rs7026361	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7027595	0.88[EUR][1000 genomes]
rs7031567	0.87[ASN][1000 genomes]
rs7040949	0.86[EUR][1000 genomes]
rs7042335	0.86[EUR][1000 genomes]
rs7043152	0.86[EUR][1000 genomes]
rs7045409	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7047089	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs710162	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7847929	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7848055	0.86[EUR][1000 genomes]
rs7850432	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7853859	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7856204	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7860774	0.84[ASN][1000 genomes]
rs7860786	0.85[ASN][1000 genomes]
rs7863234	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7863406	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864630	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7867909	0.89[EUR][1000 genomes]
rs7868640	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7869742	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7872375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7873932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8067	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs927865	0.86[ASN][1000 genomes]
rs9299403	0.88[EUR][1000 genomes]
rs9299404	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6479416	NOL8	Cis_1M	lymphoblastoid	RTeQTL
rs6479416	OGN	cis	Nerve Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94990200-95054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:94991800-95054000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:95002600-95054000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:95009600-95054000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:95029800-95054000	Weak transcription	Stomach Mucosa	stomach
6	chr9:95040000-95054600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:95042200-95055200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:95042800-95054200	Weak transcription	Fetal Brain Male	brain
9	chr9:95042800-95054800	Weak transcription	Aorta	Aorta
10	chr9:95043200-95054000	Weak transcription	Small Intestine	intestine
11	chr9:95046400-95054400	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:95047000-95054000	Weak transcription	Spleen	Spleen
13	chr9:95047000-95054200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:95047200-95054400	Weak transcription	Lung	lung
15	chr9:95048000-95054000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr9:95048000-95054200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:95048200-95054000	Weak transcription	Fetal Heart	heart
18	chr9:95048200-95054600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:95048200-95054600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:95048400-95054000	Weak transcription	Gastric	stomach
21	chr9:95048400-95054600	Weak transcription	Brain Angular Gyrus	brain
22	chr9:95048400-95054600	Weak transcription	Colonic Mucosa	Colon
23	chr9:95048600-95054000	Weak transcription	Fetal Intestine Small	intestine
24	chr9:95048600-95054000	Weak transcription	Right Ventricle	heart
25	chr9:95048600-95054200	Weak transcription	Pancreas	Pancrea
26	chr9:95048600-95054400	Weak transcription	Esophagus	oesophagus
27	chr9:95048600-95054400	Weak transcription	Fetal Stomach	stomach
28	chr9:95048600-95054400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:95048600-95054600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:95048600-95054600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:95048600-95054600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:95048800-95054000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:95048800-95054000	Weak transcription	Left Ventricle	heart
34	chr9:95049000-95054000	Weak transcription	Brain Hippocampus Middle	brain
35	chr9:95049600-95054400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:95049600-95054400	Weak transcription	Fetal Lung	lung
37	chr9:95049600-95054800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr9:95050400-95054600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr9:95050600-95054600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr9:95050600-95054600	Weak transcription	Brain Substantia Nigra	brain
41	chr9:95050800-95054600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr9:95051000-95054000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:95051000-95054400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr9:95051000-95054400	Weak transcription	Primary B cells from cord blood	blood
45	chr9:95051000-95054400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:95051000-95055000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr9:95051200-95054000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr9:95051200-95054600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:95051200-95055200	Weak transcription	Placenta	Placenta
50	chr9:95051400-95054000	Weak transcription	H1 Cell Line	embryonic stem cell

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