Variant report

Variant	nsv895408
Chromosome Location	chr10:54938398-54999514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:121484537..121485403-chr10:54967003..54967520,2	MCF-7	breast:
2	chr10:54974391..54976394-chr10:54976441..54978497,2	MCF-7	breast:
3	chr10:54961525..54963201-chr10:54972554..54974128,2	K562	blood:
4	chr10:54974391..54976394-chr10:54976441..54978497,2	MCF-7	breast:
5	chr10:54961525..54963201-chr10:54972554..54974128,2	K562	blood:

Extended variants
information (count: 1941 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1941 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531754649	chr10:54951418-54951419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548307523	chr10:54951421-54951422	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs75026383	chr10:54951449-54951450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2891440	chr10:54951508-54951509	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547465858	chr10:54951513-54951514	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570783270	chr10:54951574-54951575	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs543326070	chr10:54951602-54951603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552473590	chr10:54951624-54951625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569090319	chr10:54951649-54951650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538022813	chr10:54951650-54951651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191794710	chr10:54951654-54951655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137903065	chr10:54951657-54951658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142348000	chr10:54951665-54951666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10824936	chr10:54951666-54951667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576727927	chr10:54951667-54951668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546102373	chr10:54951692-54951693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562823207	chr10:54951699-54951700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576256042	chr10:54951703-54951704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542014366	chr10:54951721-54951722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562248866	chr10:54951733-54951734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185142564	chr10:54951750-54951751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545590476	chr10:54951764-54951765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143967061	chr10:54951769-54951770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148215782	chr10:54951775-54951776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533332045	chr10:54951865-54951866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189925442	chr10:54951905-54951906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569151992	chr10:54951948-54951949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538086015	chr10:54951956-54951957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114335002	chr10:54951971-54951972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193181231	chr10:54951981-54951982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76892198	chr10:54951996-54951997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9299548	chr10:54951997-54951998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11003445	chr10:54952013-54952014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576461320	chr10:54952028-54952029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539023620	chr10:54952057-54952058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556483297	chr10:54952071-54952072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576318869	chr10:54952074-54952075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542467725	chr10:54952086-54952087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541489467	chr10:54952189-54952190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185534652	chr10:54952191-54952192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572571426	chr10:54952200-54952201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535746383	chr10:54952205-54952206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9665038	chr10:54952243-54952244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs564589132	chr10:54952295-54952296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530393086	chr10:54952305-54952306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112461889	chr10:54952326-54952327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550507046	chr10:54952347-54952348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533394173	chr10:54952359-54952360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543837118	chr10:54952367-54952368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141958428	chr10:54952379-54952380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54951400-54951600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:54951600-54960800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:54960800-54961200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:54961200-54965000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:54964200-54966000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr10:54965000-54965400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:54965400-54966400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:54966000-54969600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:54966400-54981600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:54968600-54968800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr10:54968600-54970800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:54968800-54970000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr10:54968800-54970200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr10:54968800-54970600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr10:54969400-54970400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:54969600-54970400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:54969600-54970400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr10:54969600-54970800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr10:54969800-54970200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:54969800-54970400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:54970000-54970400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr10:54970000-54970400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:54970000-54970400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:54970000-54970400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:54970400-54974600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr10:54970800-54971400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:54971400-54971600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:54972600-54972800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr10:54979600-54980000	Enhancers	Fetal Heart	heart
30	chr10:54981600-54983200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:54981600-54983200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:54982000-54984000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:54982200-54982400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr10:54983000-54983200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr10:54983000-54983400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr10:54983200-54984200	Enhancers	Fetal Muscle Leg	muscle
37	chr10:54983200-54984400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr10:54983200-54984600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:54983200-54984600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:54983200-54984800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:54983400-54984000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr10:54983400-54984200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:54983400-54984800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:54983400-54985600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr10:54983400-54985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr10:54983600-54984000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr10:54983600-54984200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr10:54983600-54984200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr10:54983600-54984200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr10:54983600-54984200	Enhancers	Fetal Lung	lung

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