Variant report

Variant	rs531486820
Chromosome Location	chr10:44757297-44757298
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	TCF12	chr10:44756635-44757342	SK-N-SH	brain:	n/a	n/a
2	SP1	chr10:44757050-44757532	GM12878	blood:	n/a	n/a
3	EBF1	chr10:44757013-44757442	GM12878	blood:	n/a	n/a
4	MTA3	chr10:44757032-44757717	GM12878	blood:	n/a	n/a
5	TCF3	chr10:44757082-44757477	GM12878	blood:	n/a	n/a
6	EBF1	chr10:44756883-44757566	GM12878	blood:	n/a	n/a
7	FOXM1	chr10:44757081-44757528	GM12878	blood:	n/a	n/a
8	SP1	chr10:44757167-44757520	GM12878	blood:	n/a	n/a
9	FOXP2	chr10:44757185-44757442	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr10:44757074-44757381	GM12878	blood:	n/a	n/a
11	NFATC1	chr10:44757099-44757565	GM12878	blood:	n/a	n/a
12	USF1	chr10:44757155-44757374	GM12878	blood:	n/a	n/a
13	EGR1	chr10:44757161-44757401	GM12878	blood:	n/a	chr10:44757331-44757342 chr10:44757331-44757342
14	EGR1	chr10:44757217-44757386	GM12878	blood:	n/a	chr10:44757331-44757342 chr10:44757331-44757342
15	RELA	chr10:44757092-44757488	GM19099	blood:	n/a	n/a
16	ATF2	chr10:44757005-44757548	GM12878	blood:	n/a	n/a
17	FOXP2	chr10:44757271-44757466	PFSK-1	brain:	n/a	n/a
18	EP300	chr10:44757147-44757649	GM12878	blood:	n/a	n/a
19	USF1	chr10:44757201-44757441	GM12878	blood:	n/a	n/a
20	YY1	chr10:44757117-44757523	GM12892	blood:	n/a	n/a
21	ELF1	chr10:44756750-44757631	GM12878	blood:	n/a	n/a
22	ATF2	chr10:44757179-44757555	GM12878	blood:	n/a	n/a
23	ELK1	chr10:44757250-44757441	GM12878	blood:	n/a	n/a
24	ETS1	chr10:44757192-44757489	GM12878	blood:	n/a	chr10:44757352-44757363
25	ELF1	chr10:44757217-44757576	GM12878	blood:	n/a	n/a
26	TCF12	chr10:44757178-44757430	GM12878	blood:	n/a	n/a
27	MTA3	chr10:44755353-44757714	GM12878	blood:	n/a	n/a
28	ZEB1	chr10:44756982-44757477	GM12878	blood:	n/a	n/a
29	RELA	chr10:44757095-44757701	GM18505	blood:	n/a	n/a
30	RCOR1	chr10:44757228-44757482	K562	blood:	n/a	n/a
31	RUNX3	chr10:44756822-44757915	GM12878	blood:	n/a	n/a
32	BATF	chr10:44757092-44757527	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:44756356-44757930	GM12878	blood:	n/a	n/a
34	FOXM1	chr10:44756864-44757621	GM12878	blood:	n/a	n/a
35	RELA	chr10:44757055-44757523	GM12892	blood:	n/a	n/a
36	STAT5A	chr10:44756964-44757559	GM12878	blood:	n/a	chr10:44757349-44757357
37	EP300	chr10:44755346-44758381	SK-N-SH	brain:	n/a	chr10:44755726-44755740
38	EP300	chr10:44757218-44757498	GM12878	blood:	n/a	n/a
39	GATA2	chr10:44755818-44757572	SH-SY5Y	brain:	n/a	n/a
40	EP300	chr10:44756663-44757460	SK-N-SH_RA	brain:	n/a	n/a
41	RUNX3	chr10:44757003-44757961	GM12878	blood:	n/a	n/a
42	BHLHE40	chr10:44757104-44757534	GM12878	blood:	n/a	n/a
43	USF2	chr10:44757155-44757440	GM12878	blood:	n/a	n/a
44	EP300	chr10:44757144-44757598	GM12878	blood:	n/a	n/a
45	RELA	chr10:44757077-44757556	GM12891	blood:	n/a	n/a
46	PAX5	chr10:44757188-44757443	GM12878	blood:	n/a	n/a
47	BCLAF1	chr10:44756997-44757587	GM12878	blood:	n/a	n/a
48	CHD2	chr10:44757165-44757557	GM12878	blood:	n/a	n/a
49	EBF1	chr10:44757052-44757478	GM12878	blood:	n/a	n/a
50	RELA	chr10:44757086-44757516	GM19193	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000237590	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv508579	chr10:44709770-44799256	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3495951	chr10:44757085-44761391	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3496062	chr10:44757120-44761379	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv3495840	chr10:44757152-44761335	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv3496173	chr10:44757152-44761335	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44749000-44757600	Enhancers	HepG2	liver
2	chr10:44753000-44757800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:44754600-44758400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:44755200-44757800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:44755400-44758200	Enhancers	Fetal Heart	heart
6	chr10:44755800-44757800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr10:44755800-44758400	Enhancers	Right Ventricle	heart
8	chr10:44756000-44757400	Bivalent Enhancer	Fetal Stomach	stomach
9	chr10:44756000-44758400	Enhancers	Spleen	Spleen
10	chr10:44756000-44759200	Enhancers	NHDF-Ad	bronchial
11	chr10:44756000-44761000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:44756200-44757800	Enhancers	Placenta	Placenta
13	chr10:44756200-44757800	Enhancers	Left Ventricle	heart
14	chr10:44756200-44760800	Enhancers	Rectal Smooth Muscle	rectum
15	chr10:44756400-44757800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr10:44756400-44758000	Enhancers	Fetal Muscle Leg	muscle
17	chr10:44756400-44760200	Enhancers	Colon Smooth Muscle	Colon
18	chr10:44756600-44757600	Enhancers	Esophagus	oesophagus
19	chr10:44756600-44757800	Enhancers	Colonic Mucosa	Colon
20	chr10:44756600-44758000	Enhancers	Right Atrium	heart
21	chr10:44756600-44758200	Enhancers	Ovary	ovary
22	chr10:44756600-44759200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr10:44756600-44760200	Enhancers	Adipose Nuclei	Adipose
24	chr10:44756800-44757400	Enhancers	Osteobl	bone
25	chr10:44756800-44757600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr10:44756800-44757800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr10:44756800-44759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:44757000-44757400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr10:44757000-44757400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr10:44757000-44757600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:44757000-44757800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:44757000-44757800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr10:44757000-44757800	Enhancers	Fetal Intestine Small	intestine
34	chr10:44757000-44758000	Enhancers	NHLF	lung
35	chr10:44757000-44758200	Enhancers	Pancreas	Pancrea
36	chr10:44757000-44758400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:44757000-44758400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:44757200-44757600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:44757200-44757600	Enhancers	Gastric	stomach
40	chr10:44757200-44757800	Enhancers	Stomach Mucosa	stomach
41	chr10:44757200-44758400	Enhancers	Lung	lung
42	chr10:44757200-44759600	Enhancers	GM12878-XiMat	blood
43	chr10:44757200-44760600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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