Variant report

Variant	rs11188240
Chromosome Location	chr10:96994769-96994770
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	POLR2A	chr10:96994750-96995288	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:96994689-96995110	GM12891	blood:	n/a	n/a
3	POLR2A	chr10:96994710-96995183	K562	blood:	n/a	n/a
4	CEBPB	chr10:96994577-96994896	IMR90	lung:	n/a	chr10:96994722-96994733
5	POLR2A	chr10:96994737-96994995	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:96994655-96995111	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:96994682-96995088	GM12891	blood:	n/a	n/a
8	CEBPB	chr10:96994696-96994852	K562	blood:	n/a	chr10:96994722-96994733
9	CEBPB	chr10:96994595-96994896	A549	lung:	n/a	chr10:96994722-96994733
10	POLR2A	chr10:96994643-96996769	GM12891	blood:	n/a	n/a
11	FOS	chr10:96994718-96994891	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr10:96994576-96994909	HepG2	liver:	n/a	chr10:96994722-96994733
13	CEBPB	chr10:96994649-96994865	Hela-S3	cervix:	n/a	chr10:96994722-96994733

Variant related genes	Relation type
ENSG00000234026	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10882570	1.00[ASN][1000 genomes]
rs10882571	1.00[ASN][1000 genomes]
rs11188236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188238	0.92[ASN][1000 genomes]
rs11188239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598991	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11599546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872	0.82[ASN][1000 genomes]
rs12262534	0.97[ASN][1000 genomes]
rs12783947	0.92[ASN][1000 genomes]
rs12784385	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3210020	0.82[ASN][1000 genomes]
rs45510800	0.82[ASN][1000 genomes]
rs45605435	0.82[ASN][1000 genomes]
rs7909072	0.95[ASN][1000 genomes]
rs7924214	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv21432	chr10:96856006-96996043	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96990000-96995400	Weak transcription	K562	blood
2	chr10:96990000-96995800	Weak transcription	HepG2	liver
3	chr10:96990600-96994800	Weak transcription	Hela-S3	cervix
4	chr10:96990800-96994800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr10:96990800-96995200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr10:96990800-96997400	Weak transcription	Stomach Mucosa	stomach
7	chr10:96990800-97005200	Weak transcription	Psoas Muscle	Psoas
8	chr10:96991000-96994800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:96991000-96994800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:96991000-96994800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:96991000-96994800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:96991000-96995600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr10:96991000-96995600	Weak transcription	HUVEC	blood vessel
14	chr10:96991000-96995800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr10:96991000-96996000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:96991000-96996200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr10:96991000-96996400	Weak transcription	Right Ventricle	heart
18	chr10:96991000-96997200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:96991000-96997400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr10:96991000-96997600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:96991000-96999800	Weak transcription	Fetal Lung	lung
22	chr10:96991000-97001200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:96991000-97001600	Weak transcription	Thymus	Thymus
24	chr10:96991000-97006400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:96991000-97006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:96991000-97006600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr10:96991000-97006600	Weak transcription	Colon Smooth Muscle	Colon
28	chr10:96991000-97006600	Weak transcription	Right Atrium	heart
29	chr10:96991000-97007600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr10:96991000-97020400	Weak transcription	Fetal Muscle Leg	muscle
31	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr10:96991200-96996400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr10:96991200-97000000	Weak transcription	Fetal Kidney	kidney
34	chr10:96991200-97000200	Weak transcription	Fetal Thymus	thymus
35	chr10:96991400-97019000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:96991600-96994800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:96991600-96996200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:96991600-96997400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr10:96991600-97001000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:96992000-96995000	Strong transcription	GM12878-XiMat	blood
41	chr10:96992000-96995600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:96992000-97005000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr10:96992000-97005800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:96992200-96997400	Weak transcription	Small Intestine	intestine
45	chr10:96992200-97009000	Strong transcription	Liver	Liver
46	chr10:96992400-96995200	Strong transcription	Spleen	Spleen
47	chr10:96992400-96995400	Strong transcription	Fetal Intestine Small	intestine
48	chr10:96992400-96995400	Strong transcription	NHLF	lung
49	chr10:96992400-96995600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr10:96992400-96995600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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