Variant report

Variant	nsv1040045
Chromosome Location	chr10:1435200-1455768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1439393..1442041-chr10:1448217..1450840,2	K562	blood:
2	chr10:1448874..1450654-chr10:1453842..1455839,2	K562	blood:
3	chr10:1441499..1444025-chr10:1444943..1447669,3	MCF-7	breast:
4	chr10:1449013..1451560-chr10:1498248..1499822,2	K562	blood:
5	chr10:1441499..1444025-chr10:1444943..1447669,3	MCF-7	breast:
6	chr10:1439393..1442041-chr10:1448217..1450840,2	K562	blood:
7	chr10:1448874..1450654-chr10:1453842..1455839,2	K562	blood:

Extended variants
information (count: 1065 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546226333	chr10:1435230-1435231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115984876	chr10:1435265-1435266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373624725	chr10:1435302-1435303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572251980	chr10:1435309-1435310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147017868	chr10:1435314-1435315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562232473	chr10:1435338-1435339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117013196	chr10:1435369-1435370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541345535	chr10:1435386-1435387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564838713	chr10:1435416-1435417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114881234	chr10:1435464-1435465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549701771	chr10:1435470-1435471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374871913	chr10:1435483-1435484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569319852	chr10:1435484-1435485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186229268	chr10:1435485-1435486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139023499	chr10:1435498-1435499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12569543	chr10:1435506-1435507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571706036	chr10:1435517-1435518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190552811	chr10:1435590-1435591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149352623	chr10:1435596-1435597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577568591	chr10:1435627-1435628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12184345	chr10:1435650-1435651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77589633	chr10:1435661-1435662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556565414	chr10:1435697-1435698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72762971	chr10:1435723-1435724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148539590	chr10:1435825-1435826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183456450	chr10:1435910-1435911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572536258	chr10:1435912-1435913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541654516	chr10:1435940-1435941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564525875	chr10:1435957-1435958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533634466	chr10:1435958-1435959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10903439	chr10:1436060-1436061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187947968	chr10:1436073-1436074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548453493	chr10:1436160-1436161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141925356	chr10:1436165-1436166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1986608	chr10:1436204-1436205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs117260433	chr10:1436207-1436208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547507459	chr10:1436221-1436222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540666124	chr10:1436247-1436248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571371509	chr10:1436267-1436268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537326680	chr10:1436305-1436306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550919376	chr10:1436330-1436331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541061902	chr10:1436343-1436344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570880939	chr10:1436353-1436354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535890669	chr10:1436384-1436385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555891989	chr10:1436427-1436428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572455389	chr10:1436515-1436516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534815310	chr10:1436524-1436525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558296553	chr10:1436525-1436526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79146961	chr10:1436535-1436536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61833615	chr10:1436544-1436545	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Breast cancer	21509527	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
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1434800-1436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:1436200-1437600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:1437200-1439000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:1437600-1437800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr10:1437600-1442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:1438400-1438600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:1439000-1442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:1440800-1442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:1441200-1443000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr10:1441400-1442400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr10:1441400-1442400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:1441600-1442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:1441800-1442200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:1441800-1442600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr10:1442000-1442400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:1442000-1443000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:1442000-1443200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:1442000-1443600	Enhancers	HSMM	muscle
19	chr10:1442000-1444000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:1442200-1442400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr10:1442200-1442600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:1442200-1442600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:1442200-1442800	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr10:1442200-1443000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr10:1442200-1443000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:1442200-1443400	Enhancers	Esophagus	oesophagus
27	chr10:1442200-1443600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:1442200-1443600	Enhancers	HSMMtube	muscle
29	chr10:1442200-1444600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr10:1442200-1446000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:1442400-1442800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr10:1442400-1443200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr10:1442600-1443600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:1442600-1443600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr10:1442600-1444000	Enhancers	Fetal Muscle Leg	muscle
36	chr10:1442800-1443000	Bivalent Enhancer	HepG2	liver
37	chr10:1442800-1443800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr10:1443000-1443200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:1443000-1445400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr10:1443000-1446000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr10:1443400-1443600	Bivalent Enhancer	Placenta	Placenta
42	chr10:1443600-1456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:1443800-1444200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr10:1444000-1444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr10:1444200-1444600	Enhancers	Fetal Brain Male	brain
46	chr10:1444400-1445200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:1444800-1445200	Active TSS	Spleen	Spleen
48	chr10:1445200-1446000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:1445400-1446200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr10:1446000-1446200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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