Variant report

Variant	nsv551041
Chromosome Location	chr10:57143622-57184517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:57154707..57155371-chr10:83749526..83750393,2	MCF-7	breast:
2	chr10:57177168..57179759-chr10:57181346..57183496,2	K562	blood:
3	chr10:57177168..57179759-chr10:57181346..57183496,2	K562	blood:

Extended variants
information (count: 505 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:505 , 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	rs572750498	chr10:57147239-57147240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544796296	chr10:57147257-57147258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558459913	chr10:57147283-57147284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189665012	chr10:57147328-57147329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544153200	chr10:57147338-57147339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544646161	chr10:57147347-57147348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560957318	chr10:57147355-57147356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529616020	chr10:57147429-57147430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540330024	chr10:57147450-57147451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538509873	chr10:57147465-57147466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560284381	chr10:57147497-57147498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528734674	chr10:57147538-57147539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369746288	chr10:57147595-57147596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551986965	chr10:57147597-57147598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181148921	chr10:57147610-57147611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2246674	chr10:57147655-57147656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550957301	chr10:57147666-57147667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567655053	chr10:57147672-57147673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111504787	chr10:57147691-57147692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536243250	chr10:57147708-57147709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146264716	chr10:57147853-57147854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566612109	chr10:57147868-57147869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139124678	chr10:57147917-57147918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186289074	chr10:57147938-57147939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149453933	chr10:57147940-57147941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17542790	chr10:57147964-57147965	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532806584	chr10:57147984-57147985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544501305	chr10:57147988-57147989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572965403	chr10:57147994-57147995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554518548	chr10:57147997-57147998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536115067	chr10:57153437-57153438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544940092	chr10:57153480-57153481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564905313	chr10:57153563-57153564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184161059	chr10:57153587-57153588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145453048	chr10:57153627-57153628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138010762	chr10:57153660-57153661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76139055	chr10:57153662-57153663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560760259	chr10:57153693-57153694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374002195	chr10:57153739-57153740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150421744	chr10:57153744-57153745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528141991	chr10:57153771-57153772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149115358	chr10:57153782-57153783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143169047	chr10:57153794-57153795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551748702	chr10:57153823-57153824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12766383	chr10:57153826-57153827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188740321	chr10:57153842-57153843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537048255	chr10:57153855-57153856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557470692	chr10:57153892-57153893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563960974	chr10:57153894-57153895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564865705	chr10:57153897-57153898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	20962326	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57147200-57147600	Enhancers	Fetal Heart	heart
2	chr10:57147400-57148000	Enhancers	Fetal Brain Female	brain
3	chr10:57153400-57153600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:57153600-57157600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:57154200-57155400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr10:57154400-57155600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:57154600-57154800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:57154600-57155200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:57154800-57157000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:57155000-57155400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr10:57155000-57155600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr10:57155200-57159800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:57155400-57159800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr10:57155400-57160000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:57155600-57157800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:57155600-57160000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr10:57156000-57159800	Weak transcription	HUVEC	blood vessel
18	chr10:57157000-57160800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:57157600-57158400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:57157800-57158200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:57157800-57158200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr10:57158200-57158400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:57158200-57159800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:57158400-57158600	Enhancers	NHDF-Ad	bronchial
25	chr10:57158600-57159600	Weak transcription	NHDF-Ad	bronchial
26	chr10:57158600-57159800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:57159400-57160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:57159600-57160200	Enhancers	NHDF-Ad	bronchial
29	chr10:57159800-57160200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:57159800-57160400	Enhancers	HUVEC	blood vessel
31	chr10:57159800-57160600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr10:57159800-57160600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr10:57159800-57160600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:57159800-57160800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr10:57160000-57160400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr10:57160000-57160600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr10:57160000-57160600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr10:57160200-57160800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr10:57167200-57168200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr10:57168200-57170000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr10:57169200-57170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:57169400-57170000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:57169600-57170800	Enhancers	Brain Germinal Matrix	brain
44	chr10:57169800-57170000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:57169800-57171200	Enhancers	HUVEC	blood vessel
46	chr10:57170000-57170200	Enhancers	Brain Anterior Caudate	brain
47	chr10:57170000-57170400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:57170000-57170400	Enhancers	Brain Hippocampus Middle	brain
49	chr10:57170000-57170600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:57170000-57170600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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