Variant report

Variant	nsv582254
Chromosome Location	chr2:77538592-77589901
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	chr1:153937747..153940062-chr2:77544523..77546591,2	MCF-7	breast:
2	chr2:77586810..77589359-chr2:77589947..77591519,2	K562	blood:

Variant related genes	Relation type
ENSG00000143578	chromatin interactions
ENSG00000273026	chromatin interactions

Extended variants
information (count: 784 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:784 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11126601	chr2:77538592-77538593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188905350	chr2:77538596-77538597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192827081	chr2:77538605-77538606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185304660	chr2:77538639-77538640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190285374	chr2:77538686-77538687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566601866	chr2:77538702-77538703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6746344	chr2:77538718-77538719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536988665	chr2:77538773-77538774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77883079	chr2:77538794-77538795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575220417	chr2:77538805-77538806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537908606	chr2:77538826-77538827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79643060	chr2:77539021-77539022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182458812	chr2:77539049-77539050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151182926	chr2:77539068-77539069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79516452	chr2:77539122-77539123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573837996	chr2:77539136-77539137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533515848	chr2:77539144-77539145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185243612	chr2:77539191-77539192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116011672	chr2:77539256-77539257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531612004	chr2:77539269-77539270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534070780	chr2:77539270-77539271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551415979	chr2:77539278-77539279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552143164	chr2:77539306-77539307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527821860	chr2:77539321-77539322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs417691	chr2:77539362-77539363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567879327	chr2:77539367-77539368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537853145	chr2:77539375-77539376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188382995	chr2:77539387-77539388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200273903	chr2:77539400-77539401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149204300	chr2:77539401-77539402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200591550	chr2:77539404-77539405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78791472	chr2:77539405-77539406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116818744	chr2:77539424-77539425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568721430	chr2:77539462-77539463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537841188	chr2:77539490-77539491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557830606	chr2:77539493-77539494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181262159	chr2:77539561-77539562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146473917	chr2:77539591-77539592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553662833	chr2:77539593-77539594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573800655	chr2:77539595-77539596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112337483	chr2:77539624-77539625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369962599	chr2:77539642-77539643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141574190	chr2:77539643-77539644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144966234	chr2:77539679-77539680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58280532	chr2:77539698-77539699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374837316	chr2:77539728-77539729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564973047	chr2:77539729-77539730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527758790	chr2:77539739-77539740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190278255	chr2:77539756-77539757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374621062	chr2:77539761-77539762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77538000-77541600	Weak transcription	Fetal Lung	lung
2	chr2:77541600-77542200	Enhancers	Fetal Lung	lung
3	chr2:77541800-77542200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:77548200-77548600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:77548400-77550200	Enhancers	Fetal Lung	lung
6	chr2:77548600-77549000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:77549000-77549200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:77549200-77549600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:77549200-77554000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:77550200-77552200	Weak transcription	Fetal Lung	lung
11	chr2:77552200-77552800	Enhancers	Fetal Lung	lung
12	chr2:77553800-77556000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:77553800-77556200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:77554000-77554200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:77554000-77556000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:77554000-77556200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:77554000-77556400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:77554000-77556400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:77554400-77555400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:77554400-77556400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:77554600-77556200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:77555000-77555800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:77555000-77556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:77555000-77556200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:77555200-77556200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:77555400-77556200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:77555600-77556000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:77555600-77556400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:77555800-77556200	Enhancers	Fetal Brain Male	brain
30	chr2:77556000-77557000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:77556400-77557000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:77556400-77559800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:77557000-77557200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:77557000-77557200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:77559800-77561000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:77562200-77563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:77585400-77585600	Bivalent Enhancer	Esophagus	oesophagus

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