Variant report

Variant	esv3404565
Chromosome Location	chr10:840252-844650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:461779..462665-chr10:840464..841138,2	MCF-7	breast:
2	chr10:556675..557469-chr10:840259..840863,3	MCF-7	breast:
3	chr10:840517..842192-chr10:842666..844549,2	MCF-7	breast:
4	chr10:840517..842192-chr10:842666..844549,2	MCF-7	breast:
5	chr10:840309..840941-chr10:856321..856837,2	MCF-7	breast:

Extended variants
information (count: 180 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111536042	chr10:840265-840266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73582550	chr10:840286-840287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370254892	chr10:840287-840288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374639053	chr10:840293-840294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71491318	chr10:840299-840300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572504350	chr10:840300-840301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544327396	chr10:840337-840338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139006888	chr10:840344-840345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541054307	chr10:840365-840366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188373910	chr10:840403-840404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532278312	chr10:840405-840406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192747349	chr10:840455-840456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183854643	chr10:840498-840499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368205652	chr10:840566-840567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10752020	chr10:840608-840609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs547909821	chr10:840638-840639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188186777	chr10:840661-840662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74117539	chr10:840675-840676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139162734	chr10:840679-840680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554789225	chr10:840680-840681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78817215	chr10:840744-840745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571125713	chr10:840753-840754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75100511	chr10:840759-840760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180685983	chr10:840813-840814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113991056	chr10:840823-840824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117257789	chr10:840837-840838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536039318	chr10:840839-840840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74117540	chr10:840858-840859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572539012	chr10:840869-840870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11253448	chr10:841115-841116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs557821838	chr10:841189-841190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373148539	chr10:841205-841206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80348611	chr10:841207-841208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545824965	chr10:841211-841212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562419402	chr10:841227-841228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577135515	chr10:841277-841278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546233600	chr10:841294-841295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531436300	chr10:841299-841300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556990437	chr10:841304-841305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190349680	chr10:841339-841340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561465702	chr10:841341-841342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182121133	chr10:841364-841365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186674780	chr10:841385-841386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547377363	chr10:841421-841422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs150709972	chr10:841423-841424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs191735824	chr10:841426-841427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs550237165	chr10:841455-841456	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570350159	chr10:841468-841469	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545706608	chr10:841499-841500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549570408	chr10:841500-841501	Weak transcription ZNF genes & repeats	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:80 , 50 per page) page: 1 2

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	chr10:835800-852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:836000-841400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:836000-842000	Weak transcription	A549	lung
11	chr10:836000-849000	Weak transcription	Right Ventricle	heart
12	chr10:836000-849400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr10:836000-852000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:836000-852800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:836200-840600	Weak transcription	Spleen	Spleen
16	chr10:836200-842800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:836200-850200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:836200-852000	Weak transcription	Ovary	ovary
19	chr10:836200-852400	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:836200-852600	Weak transcription	Osteobl	bone
21	chr10:836400-848600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:836400-850400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:836600-853000	Weak transcription	Stomach Mucosa	stomach
24	chr10:837000-842800	Weak transcription	Placenta	Placenta
25	chr10:837200-843000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr10:837800-848400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:838000-843000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:838000-851200	Weak transcription	Gastric	stomach
29	chr10:838400-842000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:839200-852800	Weak transcription	NHDF-Ad	bronchial
31	chr10:839400-842200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:839400-842800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:839400-843000	Weak transcription	HSMMtube	muscle
34	chr10:841400-843600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:841400-845400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:841600-843000	Weak transcription	Lung	lung
37	chr10:841800-842000	Weak transcription	Brain Anterior Caudate	brain
38	chr10:841800-842400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr10:842000-843000	Strong transcription	A549	lung
40	chr10:842000-844800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:842200-842400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:842200-842600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr10:842400-843000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:842600-843000	Weak transcription	Fetal Stomach	stomach
45	chr10:842800-843400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:842800-843400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr10:842800-843400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr10:842800-843400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:842800-843400	ZNF genes & repeats	Placenta	Placenta
50	chr10:842800-843600	ZNF genes & repeats	Primary T cells from cord blood	blood

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