Variant report

Variant	esv3495951
Chromosome Location	chr10:44757085-44761391
allele	n/a
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	ATF2	chr10:44757005-44757548	GM12878	blood:	n/a	n/a
2	ATF2	chr10:44759671-44760180	GM12878	blood:	n/a	n/a
3	ATF2	chr10:44757179-44757555	GM12878	blood:	n/a	n/a
4	BATF	chr10:44759698-44760206	GM12878	blood:	n/a	n/a
5	BATF	chr10:44757092-44757527	GM12878	blood:	n/a	n/a
6	BCL3	chr10:44757032-44757494	GM12878	blood:	n/a	n/a
7	BCLAF1	chr10:44756997-44757587	GM12878	blood:	n/a	n/a
8	BCLAF1	chr10:44759753-44760194	GM12878	blood:	n/a	chr10:44759875-44759884
9	BCLAF1	chr10:44759802-44760163	GM12878	blood:	n/a	chr10:44759875-44759884
10	BHLHE40	chr10:44759795-44760087	GM12878	blood:	n/a	n/a
11	BHLHE40	chr10:44757104-44757534	GM12878	blood:	n/a	n/a
12	BHLHE40	chr10:44757216-44757493	K562	blood:	n/a	n/a
13	BHLHE40	chr10:44757777-44757782	GM12878	blood:	n/a	n/a
14	CEBPB	chr10:44757858-44758047	HepG2	liver:	n/a	chr10:44757952-44757963
15	CHD2	chr10:44757165-44757557	GM12878	blood:	n/a	n/a
16	CUX1	chr10:44759817-44760014	GM12878	blood:	n/a	n/a
17	CUX1	chr10:44757179-44757235	GM12878	blood:	n/a	n/a
18	EBF1	chr10:44759754-44760162	GM12878	blood:	n/a	n/a
19	EBF1	chr10:44756883-44757566	GM12878	blood:	n/a	n/a
20	EBF1	chr10:44757013-44757442	GM12878	blood:	n/a	n/a
21	EBF1	chr10:44757052-44757478	GM12878	blood:	n/a	n/a
22	EGR1	chr10:44757217-44757386	GM12878	blood:	n/a	chr10:44757331-44757342 chr10:44757331-44757342
23	EGR1	chr10:44757247-44757380	K562	blood:	n/a	chr10:44757331-44757342 chr10:44757331-44757342
24	EGR1	chr10:44757161-44757401	GM12878	blood:	n/a	chr10:44757331-44757342 chr10:44757331-44757342
25	EGR1	chr10:44757200-44757482	K562	blood:	n/a	chr10:44757331-44757342 chr10:44757331-44757342
26	ELF1	chr10:44757217-44757576	GM12878	blood:	n/a	n/a
27	ELF1	chr10:44756750-44757631	GM12878	blood:	n/a	n/a
28	ELK1	chr10:44757250-44757441	GM12878	blood:	n/a	n/a
29	EP300	chr10:44757220-44757421	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr10:44757144-44757598	GM12878	blood:	n/a	n/a
31	EP300	chr10:44759782-44760118	GM12878	blood:	n/a	chr10:44759976-44759990 chr10:44759811-44759825
32	EP300	chr10:44759796-44760055	GM12878	blood:	n/a	chr10:44759976-44759990 chr10:44759811-44759825
33	EP300	chr10:44757218-44757498	GM12878	blood:	n/a	n/a
34	EP300	chr10:44756651-44757119	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr10:44757147-44757649	GM12878	blood:	n/a	n/a
36	EP300	chr10:44756663-44757460	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr10:44755346-44758381	SK-N-SH	brain:	n/a	chr10:44755726-44755740
38	ETS1	chr10:44757192-44757489	GM12878	blood:	n/a	chr10:44757352-44757363
39	FOXM1	chr10:44756864-44757621	GM12878	blood:	n/a	n/a
40	FOXM1	chr10:44757081-44757528	GM12878	blood:	n/a	n/a
41	FOXP2	chr10:44757271-44757466	PFSK-1	brain:	n/a	n/a
42	FOXP2	chr10:44757185-44757442	PFSK-1	brain:	n/a	n/a
43	GATA2	chr10:44755818-44757572	SH-SY5Y	brain:	n/a	n/a
44	IKZF1	chr10:44759812-44760201	GM12878	blood:	n/a	n/a
45	IRF4	chr10:44759703-44760173	GM12878	blood:	n/a	n/a
46	IRF4	chr10:44759778-44760282	GM12878	blood:	n/a	n/a
47	MAFF	chr10:44759553-44760026	HepG2	liver:	n/a	chr10:44759846-44759864
48	MAFF	chr10:44759695-44759978	K562	blood:	n/a	chr10:44759846-44759864
49	MAFK	chr10:44759748-44759989	K562	blood:	n/a	chr10:44759847-44759863 chr10:44759851-44759862 chr10:44759852-44759863 chr10:44759851-44759862 chr10:44759847-44759862 chr10:44759852-44759863 chr10:44759850-44759864
50	MAFK	chr10:44759663-44760023	IMR90	lung:	n/a	chr10:44759847-44759863 chr10:44759851-44759862 chr10:44759852-44759863 chr10:44759851-44759862 chr10:44759847-44759862 chr10:44759852-44759863 chr10:44759850-44759864

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44753557..44756544-chr10:44758616..44760217,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CXCL12-2	chr10:44756965-44757261	XLOC_008794

Variant related genes	Relation type
ENSG00000237590	TF binding region
HIF1AN	miRNA target sites

Extended variants
information (count: 213 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs518594	chr10:44757107-44757108	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368753888	chr10:44757116-44757117	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs367569215	chr10:44757118-44757119	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs558368573	chr10:44757129-44757130	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs576659192	chr10:44757132-44757133	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs531601470	chr10:44757135-44757136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs544122222	chr10:44757145-44757146	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs182621413	chr10:44757165-44757166	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs574043386	chr10:44757183-44757184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs76913807	chr10:44757241-44757242	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs568987976	chr10:44757257-44757258	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs187608106	chr10:44757258-44757259	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs533261205	chr10:44757270-44757271	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs551945199	chr10:44757291-44757292	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564353186	chr10:44757292-44757293	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs531486820	chr10:44757297-44757298	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs550084932	chr10:44757304-44757305	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568281636	chr10:44757308-44757309	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144410848	chr10:44757323-44757324	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs547422839	chr10:44757335-44757336	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs565768877	chr10:44757346-44757347	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs192139175	chr10:44757353-44757354	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539585963	chr10:44757377-44757378	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs185714579	chr10:44757412-44757413	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs148769014	chr10:44757485-44757486	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs187207148	chr10:44757502-44757503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs142417924	chr10:44757505-44757506	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs554680279	chr10:44757522-44757523	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs374522321	chr10:44757542-44757543	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs151164896	chr10:44757615-44757616	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs140301801	chr10:44757670-44757671	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs492152	chr10:44757677-44757678	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192322148	chr10:44757706-44757707	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs143959327	chr10:44757745-44757746	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs146426710	chr10:44757746-44757747	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs549710769	chr10:44757747-44757748	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs665855	chr10:44757751-44757752	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184326587	chr10:44757782-44757783	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs547396644	chr10:44757817-44757818	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs370138616	chr10:44757883-44757884	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs79098332	chr10:44757884-44757885	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188599595	chr10:44757899-44757900	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs569655190	chr10:44758001-44758002	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs140842105	chr10:44758013-44758014	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs555698626	chr10:44758019-44758020	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs573979579	chr10:44758031-44758032	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs375299190	chr10:44758043-44758044	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555315161	chr10:44758058-44758059	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs552945368	chr10:44758094-44758095	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs577655154	chr10:44758095-44758096	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

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	chr10:44756400-44757200	Weak transcription	Lung	lung
16	chr10:44756400-44757800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:44756400-44758000	Enhancers	Fetal Muscle Leg	muscle
18	chr10:44756400-44760200	Enhancers	Colon Smooth Muscle	Colon
19	chr10:44756600-44757200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:44756600-44757600	Enhancers	Esophagus	oesophagus
21	chr10:44756600-44757800	Enhancers	Colonic Mucosa	Colon
22	chr10:44756600-44758000	Enhancers	Right Atrium	heart
23	chr10:44756600-44758200	Enhancers	Ovary	ovary
24	chr10:44756600-44759200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr10:44756600-44760200	Enhancers	Adipose Nuclei	Adipose
26	chr10:44756800-44757400	Enhancers	Osteobl	bone
27	chr10:44756800-44757600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr10:44756800-44757800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr10:44756800-44759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:44757000-44757200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr10:44757000-44757200	Flanking Active TSS	GM12878-XiMat	blood
32	chr10:44757000-44757400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr10:44757000-44757400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr10:44757000-44757600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:44757000-44757800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:44757000-44757800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:44757000-44757800	Enhancers	Fetal Intestine Small	intestine
38	chr10:44757000-44758000	Enhancers	NHLF	lung
39	chr10:44757000-44758200	Enhancers	Pancreas	Pancrea
40	chr10:44757000-44758400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:44757000-44758400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:44757200-44757600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:44757200-44757600	Enhancers	Gastric	stomach
44	chr10:44757200-44757800	Enhancers	Stomach Mucosa	stomach
45	chr10:44757200-44758400	Enhancers	Lung	lung
46	chr10:44757200-44759600	Enhancers	GM12878-XiMat	blood
47	chr10:44757200-44760600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:44757400-44757800	Enhancers	Small Intestine	intestine
49	chr10:44757400-44757800	Flanking Active TSS	Osteobl	bone
50	chr10:44757400-44759600	Enhancers	Stomach Smooth Muscle	stomach

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