Variant report

Variant	nsv470475
Chromosome Location	chr2:78410008-78482324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1603 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1603 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149859786	chr2:78413609-78413610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528737003	chr2:78413611-78413612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377555880	chr2:78413630-78413631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547512659	chr2:78413635-78413636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192298329	chr2:78413672-78413673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369949136	chr2:78413722-78413723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535899340	chr2:78413775-78413776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78022011	chr2:78413833-78413834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569904827	chr2:78413856-78413857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368527140	chr2:78413870-78413871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183232937	chr2:78413877-78413878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72925678	chr2:78413905-78413906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565527189	chr2:78413916-78413917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111787563	chr2:78413949-78413950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554593084	chr2:78413964-78413965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2033752	chr2:78413967-78413968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530701219	chr2:78413975-78413976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191597437	chr2:78414051-78414052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557059501	chr2:78414077-78414078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577205000	chr2:78414103-78414104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114733169	chr2:78414105-78414106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373567493	chr2:78414134-78414135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373848871	chr2:78414223-78414224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560136417	chr2:78414224-78414225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111748461	chr2:78414234-78414235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10176927	chr2:78414259-78414260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148992288	chr2:78414269-78414270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72819068	chr2:78414284-78414285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs367721314	chr2:78414298-78414299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529836404	chr2:78414320-78414321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183704686	chr2:78414327-78414328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569533904	chr2:78414328-78414329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532173185	chr2:78414332-78414333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187301640	chr2:78414360-78414361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142929847	chr2:78414443-78414444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147706724	chr2:78414468-78414469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547995255	chr2:78414517-78414518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374914663	chr2:78414532-78414533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567945551	chr2:78414537-78414538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200916870	chr2:78414551-78414552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74811757	chr2:78414573-78414574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142086141	chr2:78414590-78414591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577166365	chr2:78414610-78414611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145833485	chr2:78414622-78414623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553662401	chr2:78414636-78414637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573594614	chr2:78414673-78414674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1370633	chr2:78414691-78414692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs554377330	chr2:78414706-78414707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138686902	chr2:78414756-78414757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575827143	chr2:78414777-78414778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78413600-78414600	Enhancers	HepG2	liver
2	chr2:78414600-78418600	Weak transcription	HepG2	liver
3	chr2:78418600-78418800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:78418600-78419000	Enhancers	HepG2	liver
5	chr2:78418800-78428000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:78419000-78432400	Weak transcription	HepG2	liver
7	chr2:78428000-78431200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:78428200-78428600	Active TSS	Brain Anterior Caudate	brain
9	chr2:78428400-78428800	Active TSS	Brain Angular Gyrus	brain
10	chr2:78428400-78428800	Active TSS	Brain Cingulate Gyrus	brain
11	chr2:78428400-78428800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:78428400-78428800	Active TSS	Brain Substantia Nigra	brain
13	chr2:78428400-78430000	Active TSS	Brain Hippocampus Middle	brain
14	chr2:78428800-78429600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:78428800-78429600	Weak transcription	Brain Substantia Nigra	brain
16	chr2:78428800-78430400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:78429600-78430000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:78429600-78430000	Active TSS	Brain Substantia Nigra	brain
19	chr2:78430000-78430400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr2:78430000-78430600	Weak transcription	Brain Substantia Nigra	brain
21	chr2:78430200-78430800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:78430400-78430800	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:78430400-78430800	Enhancers	Brain Hippocampus Middle	brain
24	chr2:78430600-78430800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:78430600-78431200	Enhancers	Brain Substantia Nigra	brain
26	chr2:78445400-78445800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr2:78445600-78446200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:78445800-78446200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:78447400-78448200	Enhancers	Brain Hippocampus Middle	brain
30	chr2:78447600-78448400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:78448200-78453200	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:78448400-78448800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:78448800-78449400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:78453200-78454000	ZNF genes & repeats	Brain Hippocampus Middle	brain
35	chr2:78454000-78454400	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:78459800-78472400	Weak transcription	HepG2	liver
37	chr2:78460800-78462000	Enhancers	Brain Substantia Nigra	brain
38	chr2:78467000-78467200	Enhancers	Brain Hippocampus Middle	brain
39	chr2:78467000-78468000	Weak transcription	Brain Substantia Nigra	brain
40	chr2:78467200-78468600	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:78467200-78469000	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:78468000-78469200	Enhancers	Brain Substantia Nigra	brain
43	chr2:78468600-78469000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:78468600-78469000	Enhancers	Brain Hippocampus Middle	brain
45	chr2:78469000-78472800	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:78472400-78473200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:78472400-78473200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:78472400-78473400	Enhancers	HepG2	liver
49	chr2:78472600-78473000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:78472800-78473200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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