Variant report

Variant	nsv874326
Chromosome Location	chr2:77055883-77148261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:77116319..77118650-chr2:77122168..77124589,2	K562	blood:
2	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:
3	chr2:77111498..77113879-chr21:46359661..46361542,2	MCF-7	breast:
4	chr2:77116319..77118650-chr2:77122168..77124589,2	K562	blood:

Variant related genes	Relation type
ENSG00000183250	chromatin interactions
ENSG00000160256	chromatin interactions

Extended variants
information (count: 1449 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1449 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1517774	chr2:77055883-77055884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566900329	chr2:77055898-77055899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183943279	chr2:77055906-77055907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555902491	chr2:77055907-77055908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187692373	chr2:77055928-77055929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139891297	chr2:77055930-77055931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558382521	chr2:77055958-77055959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573519829	chr2:77055965-77055966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540718105	chr2:77056028-77056029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191605978	chr2:77056087-77056088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373814691	chr2:77056100-77056101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182652527	chr2:77056112-77056113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187305555	chr2:77056156-77056157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562740463	chr2:77056158-77056159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116651335	chr2:77056168-77056169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377621651	chr2:77056184-77056185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192356244	chr2:77066426-77066427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184738812	chr2:77066427-77066428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528385076	chr2:77066443-77066444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571430986	chr2:77066465-77066466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59318301	chr2:77066508-77066509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186469620	chr2:77066520-77066521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72819233	chr2:77066574-77066575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535511628	chr2:77066576-77066577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544939130	chr2:77066578-77066579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142632047	chr2:77066593-77066594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568626280	chr2:77066605-77066606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539015664	chr2:77066612-77066613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557332262	chr2:77066669-77066670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577459991	chr2:77066675-77066676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535056974	chr2:77066751-77066752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72819234	chr2:77066767-77066768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574968173	chr2:77066777-77066778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202081683	chr2:77066869-77066870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542425161	chr2:77066909-77066910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192483871	chr2:77066926-77066927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575811705	chr2:77067021-77067022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574104961	chr2:77067054-77067055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564513723	chr2:77067056-77067057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528382213	chr2:77067106-77067107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62173091	chr2:77067125-77067126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561903207	chr2:77067173-77067174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529041955	chr2:77067208-77067209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552823371	chr2:77067233-77067234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568563604	chr2:77067243-77067244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539189915	chr2:77067277-77067278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550961481	chr2:77067284-77067285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577206680	chr2:77067305-77067306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566376371	chr2:77067409-77067410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535314685	chr2:77067447-77067448	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77055400-77056000	Enhancers	Brain Anterior Caudate	brain
2	chr2:77055600-77056000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:77055600-77056200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:77066400-77067800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:77067000-77067600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:77067000-77067800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:77067000-77067800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:77067400-77067800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:77067800-77068000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:77076200-77088600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:77088600-77089200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:77088600-77089800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:77088800-77089200	Enhancers	Dnd41	blood
14	chr2:77088800-77089600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:77089200-77089800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:77089200-77089800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:77089200-77090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:77089600-77090000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:77089800-77094200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:77090200-77090400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:77094200-77095600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:77094400-77098400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:77094600-77096400	Enhancers	HUVEC	blood vessel
24	chr2:77094800-77095200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:77094800-77095200	Enhancers	Fetal Lung	lung
26	chr2:77094800-77095600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:77095000-77095400	Enhancers	NH-A	brain
28	chr2:77095400-77097600	Weak transcription	NH-A	brain
29	chr2:77096400-77096800	Weak transcription	HUVEC	blood vessel
30	chr2:77096800-77098200	Enhancers	HUVEC	blood vessel
31	chr2:77097000-77097400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:77097200-77097600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:77097200-77097600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:77097200-77098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:77097200-77098400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:77097600-77098000	Enhancers	NH-A	brain
37	chr2:77097600-77098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:77099000-77099200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:77099000-77099200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:77110200-77110400	Enhancers	Pancreas	Pancrea
41	chr2:77112400-77113000	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr2:77116400-77117000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr2:77122400-77123200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:77122400-77123200	Enhancers	HepG2	liver
45	chr2:77123400-77124400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr2:77144800-77145200	Enhancers	Adipose Nuclei	Adipose
47	chr2:77146400-77146600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:77146600-77167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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