Variant report

Variant	nsv962065
Chromosome Location	chr2:40990227-40994845
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	chr2:40984676..40988273-chr2:40989890..40992404,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-3	chr2:40994356-40994592	ENSG00000233128

Extended variants
information (count: 182 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs530191660	chr2:40990275-40990276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528098413	chr2:40990284-40990285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4552230	chr2:40990316-40990317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs72953438	chr2:40990333-40990334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141801673	chr2:40990347-40990348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184306195	chr2:40990391-40990392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72953439	chr2:40990411-40990412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537204990	chr2:40990425-40990426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72953440	chr2:40990433-40990434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547514639	chr2:40990516-40990517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565737538	chr2:40990522-40990523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541509159	chr2:40990524-40990525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189307137	chr2:40990567-40990568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554472510	chr2:40990591-40990592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72953443	chr2:40990622-40990623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544916687	chr2:40990626-40990627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563212824	chr2:40990631-40990632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181193491	chr2:40990640-40990641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75554006	chr2:40990652-40990653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7566371	chr2:40990662-40990663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11332469	chr2:40990671-40990672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202120955	chr2:40990674-40990675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201884292	chr2:40990675-40990676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72953444	chr2:40990695-40990696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571280475	chr2:40990700-40990701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532118766	chr2:40990716-40990717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541508951	chr2:40990721-40990722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570216177	chr2:40990757-40990758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376736947	chr2:40990808-40990809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537743433	chr2:40990852-40990853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185643534	chr2:40990861-40990862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567823927	chr2:40990891-40990892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534823966	chr2:40990898-40990899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72953447	chr2:40990911-40990912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537334995	chr2:40990923-40990924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150480474	chr2:40990930-40990931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558619336	chr2:40991044-40991045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538599631	chr2:40991051-40991052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78319301	chr2:40991092-40991093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575489680	chr2:40991097-40991098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200172833	chr2:40991173-40991174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566317249	chr2:40991183-40991184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111771222	chr2:40991184-40991185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534385126	chr2:40991201-40991202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540821500	chr2:40991219-40991220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560960399	chr2:40991235-40991236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572959970	chr2:40991266-40991267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540353363	chr2:40991301-40991302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72953448	chr2:40991317-40991318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11887716	chr2:40991346-40991347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40987800-40993000	Weak transcription	Fetal Heart	heart
2	chr2:40992800-40993600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:40993000-40993600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:40993000-40993800	Enhancers	Fetal Heart	heart
5	chr2:40994200-40995400	Enhancers	Pancreatic Islets	Pancreatic Islet

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