Variant report

Variant	nsv514063
Chromosome Location	chr2:40765204-40768032
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	chr2:40763799..40765386-chr2:40772496..40774595,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-6	chr2:40767486-40767578	NONHSAT070281

Extended variants
information (count: 115 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564631053	chr2:40765284-40765285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532145551	chr2:40765287-40765288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74635975	chr2:40765288-40765289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367625804	chr2:40765370-40765371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562318793	chr2:40765372-40765373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572052533	chr2:40765400-40765401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141894537	chr2:40765429-40765430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34273078	chr2:40765431-40765432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190674861	chr2:40765477-40765478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72936455	chr2:40765508-40765509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547255122	chr2:40765530-40765531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571753130	chr2:40765541-40765542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538784437	chr2:40765665-40765666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74764217	chr2:40765666-40765667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114682641	chr2:40765679-40765680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536654055	chr2:40765700-40765701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191394779	chr2:40765709-40765710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183966502	chr2:40765710-40765711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533725805	chr2:40765720-40765721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558360851	chr2:40765722-40765723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552155580	chr2:40765801-40765802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576992122	chr2:40765815-40765816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543935534	chr2:40765843-40765844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115329817	chr2:40765848-40765849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564410700	chr2:40765908-40765909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76440801	chr2:40765913-40765914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79046714	chr2:40765919-40765920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113450075	chr2:40765942-40765943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370941432	chr2:40765953-40765954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369083654	chr2:40765955-40765956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561554414	chr2:40765970-40765971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200319183	chr2:40765971-40765972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11124744	chr2:40765972-40765973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547193355	chr2:40765980-40765981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565306724	chr2:40765991-40765992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547154343	chr2:40765996-40765997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564851554	chr2:40766044-40766045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550752660	chr2:40766127-40766128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568649051	chr2:40766137-40766138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77120750	chr2:40766151-40766152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111937034	chr2:40766154-40766155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568589377	chr2:40766164-40766165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569381466	chr2:40766201-40766202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532395876	chr2:40766205-40766206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181379952	chr2:40766211-40766212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548214936	chr2:40766225-40766226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566410709	chr2:40766285-40766286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533810786	chr2:40766294-40766295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560534408	chr2:40766295-40766296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74506008	chr2:40766313-40766314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40757800-40774800	Weak transcription	Small Intestine	intestine
2	chr2:40758800-40767600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:40759600-40765400	Enhancers	Fetal Heart	heart
4	chr2:40762200-40766600	Weak transcription	Primary T cells from cord blood	blood
5	chr2:40762200-40767600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:40762800-40766800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:40764000-40767200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:40765400-40766400	Weak transcription	Fetal Heart	heart
9	chr2:40766400-40768400	Enhancers	Fetal Heart	heart
10	chr2:40766600-40767400	Enhancers	Primary T cells from cord blood	blood
11	chr2:40766800-40767800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:40767200-40767400	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:40767200-40767800	Enhancers	Fetal Intestine Small	intestine
14	chr2:40767200-40768200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:40767400-40767800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr2:40767600-40768200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:40767600-40768800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:40767800-40768000	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:40767800-40774200	Weak transcription	Fetal Intestine Small	intestine
20	chr2:40768000-40768400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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