Variant report

Variant	nsv947568
Chromosome Location	chr10:639635-644602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:638624..640408-chr10:644679..647011,2	MCF-7	breast:
2	chr10:642832..645382-chr10:657753..659444,2	MCF-7	breast:
3	chr10:641312..643673-chr10:645720..648516,2	MCF-7	breast:
4	chr10:630264..632276-chr10:643488..645388,2	MCF-7	breast:
5	chr10:636273..639205-chr10:641067..642739,2	MCF-7	breast:
6	chr10:632427..634199-chr10:639895..642783,2	K562	blood:

Extended variants
information (count: 322 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142470360	chr10:639691-639692	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565128019	chr10:639697-639698	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571230653	chr10:639712-639713	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536817582	chr10:639730-639731	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12570174	chr10:639750-639751	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs58365451	chr10:639762-639763	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536386586	chr10:639820-639821	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552678040	chr10:639821-639822	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200185726	chr10:639848-639849	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151174686	chr10:639864-639865	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572820951	chr10:639873-639874	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75025476	chr10:639881-639882	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559257916	chr10:639903-639904	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143284321	chr10:639923-639924	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190968532	chr10:639961-639962	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375094379	chr10:639962-639963	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528246599	chr10:639994-639995	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561577915	chr10:640018-640019	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs118143000	chr10:640047-640048	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183176744	chr10:640061-640062	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540755665	chr10:640075-640076	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557050755	chr10:640077-640078	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376028883	chr10:640086-640087	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151260148	chr10:640096-640097	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368074263	chr10:640105-640106	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573829164	chr10:640140-640141	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140446846	chr10:640201-640202	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150391539	chr10:640202-640203	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375222237	chr10:640228-640229	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369824585	chr10:640240-640241	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187507461	chr10:640254-640255	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371859663	chr10:640288-640289	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191794557	chr10:640289-640290	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374042773	chr10:640328-640329	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535941959	chr10:640345-640346	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553002058	chr10:640348-640349	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376511676	chr10:640352-640353	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566458326	chr10:640357-640358	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538596045	chr10:640358-640359	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368601302	chr10:640362-640363	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576007735	chr10:640373-640374	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544964215	chr10:640406-640407	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554851451	chr10:640414-640415	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372366389	chr10:640433-640434	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141818900	chr10:640452-640453	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145486656	chr10:640467-640468	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532479951	chr10:640470-640471	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545788781	chr10:640477-640478	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562582641	chr10:640486-640487	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530699889	chr10:640509-640510	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:616200-643800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:620600-644400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:627200-642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:631600-640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:632200-645000	Weak transcription	Fetal Intestine Large	intestine
6	chr10:632400-642600	Weak transcription	Brain Germinal Matrix	brain
7	chr10:632400-644400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:633000-644000	Weak transcription	Gastric	stomach
9	chr10:634600-643200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:634600-643400	Weak transcription	Osteobl	bone
11	chr10:634600-644400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:634800-640000	Weak transcription	Lung	lung
13	chr10:634800-640600	Weak transcription	Fetal Stomach	stomach
14	chr10:634800-645000	Weak transcription	Aorta	Aorta
15	chr10:634800-647800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:635000-640000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:635000-643400	Weak transcription	HSMM	muscle
18	chr10:635200-644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:635800-643800	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:636400-640000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:636400-642800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:636400-644800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:636600-643000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:636600-643200	Weak transcription	HSMMtube	muscle
25	chr10:637600-640200	Enhancers	Brain Substantia Nigra	brain
26	chr10:637800-641400	Weak transcription	Fetal Brain Male	brain
27	chr10:638000-639800	Weak transcription	Brain Hippocampus Middle	brain
28	chr10:638000-639800	Weak transcription	Fetal Intestine Small	intestine
29	chr10:638000-640000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:638000-640800	Weak transcription	Spleen	Spleen
31	chr10:638000-642600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:638000-644200	Weak transcription	Brain Anterior Caudate	brain
33	chr10:638200-640000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:638200-640200	Enhancers	Brain Cingulate Gyrus	brain
35	chr10:638200-644200	Weak transcription	Fetal Brain Female	brain
36	chr10:638400-642200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr10:638400-643800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:638800-641400	Enhancers	Right Ventricle	heart
39	chr10:639000-640200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:639000-640200	Enhancers	Brain Angular Gyrus	brain
41	chr10:639000-640400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:639000-640400	Enhancers	Right Atrium	heart
43	chr10:639000-640800	Enhancers	Colon Smooth Muscle	Colon
44	chr10:639000-640800	Enhancers	Ovary	ovary
45	chr10:639000-640800	Enhancers	Psoas Muscle	Psoas
46	chr10:639200-643400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr10:639200-643800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr10:639400-639800	Flanking Active TSS	Left Ventricle	heart
49	chr10:639600-639800	Active TSS	Liver	Liver
50	chr10:639600-639800	Active TSS	Stomach Smooth Muscle	stomach

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