Variant report

Variant	nsv821541
Chromosome Location	chr10:839593-840268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:556675..557469-chr10:840259..840863,3	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61831437	chr10:839610-839611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368021593	chr10:839617-839618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568844948	chr10:839624-839625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537464430	chr10:839634-839635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554116805	chr10:839650-839651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56202496	chr10:839658-839659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371882334	chr10:839673-839674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56120219	chr10:839689-839690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574801146	chr10:839713-839714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112981677	chr10:839735-839736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534260566	chr10:839753-839754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76723479	chr10:839754-839755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369827171	chr10:839772-839773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577394900	chr10:839777-839778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372845276	chr10:839778-839779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111606720	chr10:839825-839826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77122258	chr10:839826-839827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369105151	chr10:839833-839834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546062247	chr10:839838-839839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563011781	chr10:839857-839858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373341187	chr10:839858-839859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576576039	chr10:839866-839867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79599851	chr10:839873-839874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376342415	chr10:839874-839875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56116535	chr10:839879-839880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113389295	chr10:839889-839890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77531626	chr10:839890-839891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75120712	chr10:839898-839899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76429651	chr10:839906-839907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77833537	chr10:839914-839915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77335764	chr10:839922-839923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376261789	chr10:839937-839938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370988306	chr10:839938-839939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113311185	chr10:839954-839955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374627533	chr10:839962-839963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111905280	chr10:839970-839971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113232416	chr10:839977-839978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111304749	chr10:839980-839981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112648535	chr10:839985-839986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532371511	chr10:840009-840010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113006348	chr10:840010-840011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370062881	chr10:840033-840034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374378279	chr10:840049-840050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113933330	chr10:840050-840051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113876222	chr10:840058-840059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112344870	chr10:840066-840067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375576916	chr10:840082-840083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373805974	chr10:840098-840099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113808208	chr10:840114-840115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372709406	chr10:840119-840120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:831400-850000	Weak transcription	Fetal Heart	heart
2	chr10:835000-841800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr10:835400-843000	Weak transcription	Aorta	Aorta
4	chr10:835600-841400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:835600-841800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:835600-842800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:835600-853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:835800-839600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:835800-852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:836000-840200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:836000-841400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:836000-842000	Weak transcription	A549	lung
13	chr10:836000-849000	Weak transcription	Right Ventricle	heart
14	chr10:836000-849400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr10:836000-852000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr10:836000-852800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:836200-840600	Weak transcription	Spleen	Spleen
18	chr10:836200-842800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:836200-850200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr10:836200-852000	Weak transcription	Ovary	ovary
21	chr10:836200-852400	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:836200-852600	Weak transcription	Osteobl	bone
23	chr10:836400-848600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr10:836400-850400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr10:836600-853000	Weak transcription	Stomach Mucosa	stomach
26	chr10:837000-842800	Weak transcription	Placenta	Placenta
27	chr10:837200-843000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:837800-848400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr10:838000-843000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:838000-851200	Weak transcription	Gastric	stomach
31	chr10:838200-840000	Weak transcription	Esophagus	oesophagus
32	chr10:838400-842000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:839200-852800	Weak transcription	NHDF-Ad	bronchial
34	chr10:839400-842200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:839400-842800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:839400-843000	Weak transcription	HSMMtube	muscle

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