Variant report

Variant	nsv519977
Chromosome Location	chr10:4934211-4948921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:4944990-4945093	HepG2	liver:	n/a	n/a
2	ATF1	chr10:4944820-4945103	K562	blood:	n/a	n/a
3	BRCA1	chr10:4944963-4945066	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:4948072-4948352	K562	blood:	n/a	chr10:4948213-4948224
5	CEBPB	chr10:4948135-4948323	HepG2	liver:	n/a	chr10:4948213-4948224
6	CEBPB	chr10:4944928-4945128	HepG2	liver:	n/a	n/a
7	CTCF	chr10:4945959-4946055	GM13976	blood:	n/a	n/a
8	CTCF	chr10:4943695-4943740	LNCaP	prostate:	n/a	n/a
9	CUX1	chr10:4945132-4945145	K562	blood:	n/a	n/a
10	EBF1	chr10:4944895-4945334	GM12878	blood:	n/a	n/a
11	EP300	chr10:4944623-4944715	GM12878	blood:	n/a	n/a
12	EP300	chr10:4944876-4944997	GM12878	blood:	n/a	n/a
13	FOS	chr10:4944653-4944999	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr10:4944747-4944997	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr10:4944692-4945033	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr10:4944669-4945151	MCF10A-Er-Src	breast:	n/a	chr10:4945114-4945125
17	FOXA1	chr10:4945095-4945601	HepG2	liver:	n/a	n/a
18	HEY1	chr10:4944108-4944421	K562	blood:	n/a	n/a
19	JUN	chr10:4935407-4935607	K562	blood:	n/a	n/a
20	JUND	chr10:4945578-4945602	K562	blood:	n/a	n/a
21	JUND	chr10:4944710-4945186	K562	blood:	n/a	chr10:4945114-4945125
22	MAFF	chr10:4936532-4936543	K562	blood:	n/a	n/a
23	MAFK	chr10:4936269-4936308	HepG2	liver:	n/a	n/a
24	MYC	chr10:4944698-4944988	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr10:4945859-4945875	MCF-7	breast:	n/a	n/a
26	POLR2A	chr10:4944200-4944400	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr10:4935156-4935327	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr10:4945829-4945866	K562	blood:	n/a	n/a
29	POLR2A	chr10:4944163-4945103	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr10:4944684-4944690	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr10:4948056-4948141	MCF10A-Er-Src	breast:	n/a	n/a
32	RCOR1	chr10:4945616-4945659	K562	blood:	n/a	n/a
33	REST	chr10:4945669-4945862	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr10:4945667-4945900	H1-hESC	embryonic stem cell:	n/a	n/a
35	RFX5	chr10:4935346-4935546	K562	blood:	n/a	n/a
36	RXRA	chr10:4945272-4945573	HepG2	liver:	n/a	n/a
37	SP1	chr10:4945252-4945541	HepG2	liver:	n/a	n/a
38	STAT3	chr10:4944693-4944969	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr10:4948181-4948410	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr10:4944699-4944981	MCF10A-Er-Src	breast:	n/a	n/a
41	ZC3H11A	chr10:4936283-4936297	K562	blood:	n/a	n/a
42	ZNF384	chr10:4943554-4943562	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4944287..4946415-chr10:4947566..4950260,2	K562	blood:
2	chr10:4944287..4946415-chr10:4947566..4950260,2	K562	blood:
3	chr10:4944889..4947267-chr10:4947876..4949644,2	MCF-7	breast:
4	chr10:4947891..4950201-chr10:4952537..4954922,2	K562	blood:
5	chr10:4930274..4933075-chr10:4935096..4936648,2	K562	blood:
6	chr10:4943122..4945399-chr10:6203684..6206362,2	K562	blood:
7	chr10:4924404..4926925-chr10:4947394..4949303,2	K562	blood:
8	chr10:4944889..4947267-chr10:4947876..4949644,2	MCF-7	breast:

No data

Variant related genes	Relation type
AKR1C6P	TF binding region
AKR1C1	TF binding region

Extended variants
information (count: 522 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7922573	chr10:4934211-4934212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116229905	chr10:4934291-4934292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575448703	chr10:4934310-4934311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540784047	chr10:4934331-4934332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4242781	chr10:4934332-4934333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs368058933	chr10:4934384-4934385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139186372	chr10:4934395-4934396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11816368	chr10:4934425-4934426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs74538294	chr10:4934438-4934439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80186881	chr10:4934462-4934463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563262490	chr10:4934536-4934537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11252813	chr10:4934537-4934538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374767684	chr10:4934635-4934636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570691998	chr10:4934637-4934638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144159747	chr10:4934640-4934641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187160803	chr10:4934667-4934668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189951191	chr10:4934671-4934672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182531854	chr10:4934676-4934677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540067011	chr10:4934681-4934682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535546733	chr10:4934711-4934712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550593791	chr10:4934714-4934715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569134216	chr10:4934751-4934752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186175283	chr10:4934773-4934774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372610048	chr10:4934775-4934776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548902146	chr10:4934816-4934817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558179728	chr10:4934830-4934831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190775559	chr10:4934832-4934833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534132789	chr10:4934838-4934839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182250551	chr10:4934845-4934846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114152202	chr10:4934859-4934860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184916240	chr10:4934924-4934925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563345661	chr10:4934940-4934941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7092618	chr10:4935154-4935155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs545742983	chr10:4935161-4935162	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs146474786	chr10:4935187-4935188	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs141013037	chr10:4935193-4935194	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs546433048	chr10:4935197-4935198	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs377292076	chr10:4935209-4935210	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs35767651	chr10:4935215-4935216	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs397812656	chr10:4935223-4935224	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs75950114	chr10:4935225-4935226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs561532537	chr10:4935250-4935251	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs555962774	chr10:4935264-4935265	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs35914583	chr10:4935271-4935272	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs55814446	chr10:4935286-4935287	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs191423234	chr10:4935296-4935297	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550680835	chr10:4935342-4935343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182976142	chr10:4935347-4935348	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs529219693	chr10:4935374-4935375	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs373132882	chr10:4935433-4935434	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4908800-4944200	Weak transcription	Adipose Nuclei	Adipose
2	chr10:4910400-4936400	Weak transcription	Left Ventricle	heart
3	chr10:4915800-4943600	Weak transcription	Aorta	Aorta
4	chr10:4916800-4936400	Weak transcription	Pancreas	Pancrea
5	chr10:4918400-4968000	Weak transcription	Primary T cells from cord blood	blood
6	chr10:4919200-4936800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:4925800-4936400	Weak transcription	Right Atrium	heart
8	chr10:4927800-4936200	Weak transcription	Lung	lung
9	chr10:4930600-4934600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:4931200-4934600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:4931200-4944200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:4932200-4936000	Weak transcription	Fetal Stomach	stomach
13	chr10:4932600-4936200	Weak transcription	Liver	Liver
14	chr10:4933400-4936000	Weak transcription	HepG2	liver
15	chr10:4935800-4937000	Enhancers	Fetal Heart	heart
16	chr10:4936000-4936400	Enhancers	Fetal Stomach	stomach
17	chr10:4936000-4936400	Enhancers	Stomach Mucosa	stomach
18	chr10:4936200-4936400	Enhancers	Small Intestine	intestine
19	chr10:4936200-4936800	Enhancers	Liver	Liver
20	chr10:4936200-4936800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr10:4936200-4936800	Enhancers	Fetal Lung	lung
22	chr10:4936200-4937000	Enhancers	Gastric	stomach
23	chr10:4936200-4937000	Enhancers	Lung	lung
24	chr10:4936400-4936800	Enhancers	Left Ventricle	heart
25	chr10:4936400-4937000	Enhancers	Ovary	ovary
26	chr10:4936400-4937000	Enhancers	Pancreas	Pancrea
27	chr10:4936400-4937000	Enhancers	Right Atrium	heart
28	chr10:4936800-4943600	Weak transcription	Left Ventricle	heart
29	chr10:4943600-4944200	Enhancers	Left Ventricle	heart
30	chr10:4943600-4944200	Enhancers	Lung	lung
31	chr10:4943600-4944200	Enhancers	Right Atrium	heart
32	chr10:4943600-4944400	Enhancers	Aorta	Aorta
33	chr10:4943600-4946000	Enhancers	Pancreas	Pancrea
34	chr10:4943600-4946400	Enhancers	K562	blood
35	chr10:4944200-4944400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:4944200-4944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:4944200-4944400	Enhancers	Stomach Smooth Muscle	stomach
38	chr10:4944200-4944800	Weak transcription	Left Ventricle	heart
39	chr10:4944200-4944800	Weak transcription	Right Atrium	heart
40	chr10:4944200-4945200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr10:4944200-4945400	Enhancers	Adipose Nuclei	Adipose
42	chr10:4944200-4945800	Enhancers	Liver	Liver
43	chr10:4944400-4944800	Enhancers	Brain Anterior Caudate	brain
44	chr10:4944400-4944800	Flanking Active TSS	Fetal Heart	heart
45	chr10:4944400-4944800	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr10:4944400-4944800	Enhancers	HepG2	liver
47	chr10:4944400-4945000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:4944400-4945000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:4944400-4945200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:4944400-4945200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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