Variant report

Variant	rs7069774
Chromosome Location	chr10:43307920-43307921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr10:43307893-43308370	GM12878	blood:	n/a	n/a
2	SPI1	chr10:43307860-43308093	K562	blood:	n/a	n/a
3	SPI1	chr10:43307874-43308091	K562	blood:	n/a	n/a
4	SIX5	chr10:43307908-43308189	K562	blood:	n/a	n/a
5	ZBTB33	chr10:43307866-43308188	K562	blood:	n/a	n/a
6	SPI1	chr10:43307901-43308081	GM12878	blood:	n/a	n/a
7	FOSL2	chr10:43307899-43308399	HepG2	liver:	n/a	n/a
8	SPI1	chr10:43307859-43308215	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:43307899-43308294	GM12878	blood:	n/a	n/a
10	POU2F2	chr10:43307822-43308414	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:43307704-43308529	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr10:43307908-43308286	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000238732	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1008751	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10466247	0.94[ASN][1000 genomes]
rs10793636	0.95[ASN][1000 genomes]
rs10793638	0.88[ASN][1000 genomes]
rs10900268	0.93[ASN][1000 genomes]
rs10900273	0.88[ASN][1000 genomes]
rs10900276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10900278	0.81[ASN][1000 genomes]
rs10900279	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10900280	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11239774	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11239781	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11239782	0.85[ASN][1000 genomes]
rs11239784	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11239785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11239787	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12240444	0.86[ASN][1000 genomes]
rs12241247	0.88[ASN][1000 genomes]
rs12570118	0.83[ASN][1000 genomes]
rs12572769	0.82[AMR][1000 genomes]
rs12770094	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1539292	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1539293	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1539294	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1575039	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2142985	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2419111	0.95[ASN][1000 genomes]
rs2419112	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34081555	0.93[ASN][1000 genomes]
rs34867211	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35580408	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3758514	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3758516	0.86[ASN][1000 genomes]
rs3982211	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4379783	0.90[ASN][1000 genomes]
rs4949033	0.93[ASN][1000 genomes]
rs4949035	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6593491	0.88[ASN][1000 genomes]
rs6593492	0.93[ASN][1000 genomes]
rs6593494	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6593495	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6593496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6593498	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6593499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7074877	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7080924	0.81[ASN][1000 genomes]
rs7086238	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7089449	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7091406	0.86[ASN][1000 genomes]
rs7100307	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7133	0.81[ASN][1000 genomes]
rs7894010	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7895163	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7895230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7896943	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7901385	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7909445	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7922246	0.88[ASN][1000 genomes]
rs7922559	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7923351	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7923890	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9326544	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh 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
3	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS 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
8	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers 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
9	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv895076	chr10:43234432-43326627	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	92 gene(s)	inside rSNPs	diseases
14	nsv947891	chr10:43299039-43319274	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv14695	chr10:43301539-43355457	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279800-43308400	Strong transcription	Fetal Intestine Large	intestine
2	chr10:43279800-43308800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:43279800-43309000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr10:43279800-43324000	Strong transcription	Liver	Liver
5	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:43280000-43309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:43280000-43310800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:43280200-43310600	Strong transcription	Primary T cells from cord blood	blood
9	chr10:43281000-43308600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:43282400-43308200	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:43294400-43311800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:43294600-43322800	Weak transcription	Stomach Mucosa	stomach
14	chr10:43295000-43308000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:43295000-43309400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:43295600-43311800	Weak transcription	Pancreas	Pancrea
17	chr10:43296600-43309400	Weak transcription	Small Intestine	intestine
18	chr10:43296800-43311800	Weak transcription	Colonic Mucosa	Colon
19	chr10:43298800-43313000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:43299600-43309400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:43299600-43309600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr10:43299600-43318600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:43299800-43309200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr10:43299800-43312400	Weak transcription	HSMMtube	muscle
25	chr10:43299800-43313000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr10:43300000-43312800	Weak transcription	Fetal Brain Male	brain
27	chr10:43300000-43318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:43300800-43310600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr10:43301200-43308200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:43301200-43309200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:43301600-43323000	Weak transcription	HMEC	breast
32	chr10:43301800-43318000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:43301800-43325800	Weak transcription	NHLF	lung
34	chr10:43302000-43311400	Weak transcription	HepG2	liver
35	chr10:43302600-43312800	Weak transcription	Fetal Kidney	kidney
36	chr10:43302800-43309400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:43302800-43313000	Weak transcription	Brain Hippocampus Middle	brain
38	chr10:43303000-43317800	Weak transcription	NH-A	brain
39	chr10:43303200-43311800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:43303200-43311800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:43303200-43313000	Weak transcription	Brain Substantia Nigra	brain
42	chr10:43303200-43313200	Weak transcription	Right Ventricle	heart
43	chr10:43303200-43322200	Weak transcription	Psoas Muscle	Psoas
44	chr10:43303400-43309600	Weak transcription	Brain Germinal Matrix	brain
45	chr10:43303400-43310000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr10:43303400-43312400	Weak transcription	Left Ventricle	heart
47	chr10:43303400-43313000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr10:43303400-43313000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr10:43303600-43309400	Weak transcription	HSMM	muscle
50	chr10:43303600-43311800	Weak transcription	Osteobl	bone

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