Variant report

Variant	rs62537379
Chromosome Location	chr9:44070938-44070939
allele	G/T
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	FOXM1	chr9:44070373-44071098	GM12878	blood:	n/a	n/a
2	IRF4	chr9:44070424-44071017	GM12878	blood:	n/a	n/a
3	CEBPD	chr9:44070455-44070965	K562	blood:	n/a	n/a
4	SPI1	chr9:44070524-44071030	GM12878	blood:	n/a	n/a
5	POU2F2	chr9:44070446-44071005	GM12878	blood:	n/a	chr9:44070569-44070590
6	POLR2A	chr9:44070378-44070973	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr9:44070532-44070993	PANC-1	pancreas:	n/a	n/a
8	FOSL2	chr9:44070481-44070961	HepG2	liver:	n/a	n/a
9	GTF2F1	chr9:44070584-44070957	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr9:44070582-44070950	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr9:44070463-44071084	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr9:44070592-44070940	SK-N-SH	brain:	n/a	n/a
13	RXRA	chr9:44070433-44071012	GM12878	blood:	n/a	chr9:44070595-44070611
14	FOSL2	chr9:44070453-44071006	HepG2	liver:	n/a	n/a
15	BCL11A	chr9:44070488-44070939	GM12878	blood:	n/a	n/a
16	POLR2A	chr9:44070468-44070972	PANC-1	pancreas:	n/a	n/a
17	SP1	chr9:44070437-44071009	K562	blood:	n/a	chr9:44070486-44070507 chr9:44070735-44070746
18	POLR2A	chr9:44070559-44070950	MCF10A-Er-Src	breast:	n/a	n/a
19	PAX5	chr9:44070379-44071062	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000170165	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62536298	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv436621	chr9:43145796-44122367	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1030874	chr9:43315962-44114860	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1021270	chr9:43315962-44145340	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1024462	chr9:43315962-44205637	Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1029200	chr9:43437359-44214733	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1015727	chr9:43505840-44114860	Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1025269	chr9:43505840-44136778	Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1029217	chr9:43505840-44145340	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1027371	chr9:43505840-44273229	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1032592	chr9:43505840-44396915	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1021421	chr9:43505840-44469316	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	esv2753911	chr9:43530395-44466984	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	esv2756103	chr9:43530395-44466984	Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1015636	chr9:43612150-44145340	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1029109	chr9:43612150-44273229	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv1026029	chr9:43612150-44446124	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv1029916	chr9:43612150-44466205	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	nsv1034880	chr9:43612150-44469316	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	nsv1016609	chr9:43654127-44241805	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv1016330	chr9:43654127-44273229	Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv1030605	chr9:43654127-44469316	Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv1019786	chr9:43675599-44469316	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv1024443	chr9:43700866-44469316	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv1020552	chr9:43726990-44273229	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv1018992	chr9:43726990-44469316	Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv1015988	chr9:43734207-44469316	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv1034869	chr9:43757334-44739032	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
28	nsv1018198	chr9:43772038-44469316	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	nsv1026263	chr9:43776906-44469316	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
30	nsv1029361	chr9:43800174-44273229	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
31	esv1828893	chr9:43936609-44463095	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
32	esv1822441	chr9:43941952-44475321	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
33	nsv968643	chr9:43997036-44139152	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
34	esv1821075	chr9:44015421-44475321	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
35	esv1833488	chr9:44046700-44821943	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
36	nsv969592	chr9:44070279-44072916	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs62537379	ANKRD20A7P	cis	Esophagus Muscularis	GTEx
rs62537379	ANKRD20A7P	cis	Artery Tibial	GTEx
rs62537379	CR848007.2	cis	Nerve Tibial	GTEx
rs62537379	CR848007.2	cis	Thyroid	GTEx
rs62537379	ANKRD20A7P	cis	Esophagus Mucosa	GTEx
rs62537379	ANKRD20A7P	cis	Thyroid	GTEx
rs62537379	CR848007.2	cis	Adipose Subcutaneous	GTEx
rs62537379	ANKRD20A7P	cis	Skin Sun Exposed Lower leg	GTEx
rs62537379	ANKRD20A7P	cis	Nerve Tibial	GTEx
rs62537379	ANKRD20A7P	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:44070600-44071000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:44070600-44071000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:44070600-44071000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:44070600-44071000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr9:44070600-44071000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr9:44070600-44071000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
10	chr9:44070600-44071000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr9:44070600-44071000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr9:44070600-44071000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:44070600-44071000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:44070600-44071000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:44070600-44071000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
16	chr9:44070600-44071000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr9:44070600-44071000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr9:44070600-44071000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
20	chr9:44070600-44071000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr9:44070600-44071000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
22	chr9:44070600-44071000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
25	chr9:44070600-44071000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:44070600-44071000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
28	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Liver	Liver
29	chr9:44070600-44071000	ZNF genes & repeats	Brain Hippocampus Middle	brain
30	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
31	chr9:44070600-44071000	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr9:44070600-44071000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr9:44070600-44071000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr9:44070600-44071000	ZNF genes & repeats	Fetal Lung	lung
35	chr9:44070600-44071000	ZNF genes & repeats	Gastric	stomach
36	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
37	chr9:44070600-44071000	ZNF genes & repeats	Lung	lung
38	chr9:44070600-44071000	ZNF genes & repeats	Pancreas	Pancrea
39	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
40	chr9:44070600-44071000	ZNF genes & repeats	Right Atrium	heart
41	chr9:44070600-44071000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr9:44070600-44071000	ZNF genes & repeats	Small Intestine	intestine
43	chr9:44070600-44071000	ZNF genes & repeats	Stomach Mucosa	stomach
44	chr9:44070600-44071000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
45	chr9:44070600-44071000	Bivalent Enhancer	Spleen	Spleen
46	chr9:44070600-44071000	Active TSS	HepG2	liver
47	chr9:44070600-44071000	Enhancers	HSMMtube	muscle
48	chr9:44070600-44071000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	NH-A	brain
50	chr9:44070600-44071000	Active TSS	NHLF	lung

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