Variant report

Variant	nsv524113
Chromosome Location	chr2:35998317-36113122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36026668..36029472-chr2:36034547..36037398,2	K562	blood:
2	chr2:36099243..36100067-chr2:36734209..36735134,2	MCF-7	breast:
3	chr2:36026668..36029472-chr2:36034547..36037398,2	K562	blood:

Extended variants
information (count: 3868 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:3868 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386644812	chr2:35998317-35998318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115222313	chr2:35998348-35998349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6751548	chr2:35998350-35998351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573699363	chr2:35998361-35998362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541092271	chr2:35998392-35998393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553138348	chr2:35998411-35998412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577890257	chr2:35998419-35998420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369312154	chr2:35998488-35998489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574914751	chr2:35998513-35998514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563587794	chr2:35998518-35998519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542432934	chr2:35998528-35998529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149098538	chr2:35998531-35998532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12989387	chr2:35998561-35998562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79895301	chr2:35998569-35998570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567412416	chr2:35998570-35998571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191685163	chr2:35998580-35998581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34066141	chr2:35998632-35998633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143705778	chr2:35998639-35998640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532729875	chr2:35998645-35998646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547383414	chr2:35998669-35998670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182064733	chr2:35998673-35998674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559125319	chr2:35998702-35998703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569438763	chr2:35998703-35998704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376659840	chr2:35998720-35998721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151069884	chr2:35998733-35998734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555258637	chr2:35998742-35998743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369008209	chr2:35998749-35998750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567255236	chr2:35998793-35998794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534630732	chr2:35998800-35998801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141000594	chr2:35998805-35998806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577851299	chr2:35998871-35998872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146303212	chr2:35998889-35998890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556830780	chr2:35998912-35998913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187637950	chr2:35998922-35998923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542544451	chr2:35998923-35998924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560879953	chr2:35999064-35999065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536956009	chr2:35999088-35999089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139045083	chr2:35999126-35999127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79630470	chr2:35999162-35999163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10495844	chr2:35999194-35999195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375922570	chr2:35999199-35999200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141807503	chr2:35999231-35999232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35298359	chr2:35999282-35999283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147126030	chr2:35999309-35999310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138270983	chr2:35999353-35999354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193222669	chr2:35999374-35999375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185469443	chr2:35999403-35999404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567218436	chr2:35999404-35999405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534587409	chr2:35999418-35999419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546576740	chr2:35999427-35999428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	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	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35997000-36004600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:36004600-36005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:36005600-36008000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:36008000-36008600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:36008600-36009000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:36008600-36009400	Enhancers	A549	lung
7	chr2:36009000-36009200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:36009200-36011800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:36011800-36016600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:36012000-36012800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:36012200-36013200	Enhancers	HMEC	breast
12	chr2:36012800-36015200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:36013200-36020200	Weak transcription	HMEC	breast
14	chr2:36015200-36015600	Enhancers	Pancreas	Pancrea
15	chr2:36015200-36016000	Enhancers	NHEK	skin
16	chr2:36016000-36016400	Weak transcription	NHEK	skin
17	chr2:36016400-36016600	Enhancers	NHEK	skin
18	chr2:36016600-36017800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:36016600-36019400	Weak transcription	NHEK	skin
20	chr2:36017000-36018200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:36017200-36018400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:36017400-36018200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:36017400-36018400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:36017400-36018600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:36017800-36018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:36017800-36018400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:36017800-36019000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:36017800-36019200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:36018000-36018400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:36018000-36018400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:36018400-36019600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:36018400-36022800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:36019200-36021800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:36019400-36021000	Enhancers	NHEK	skin
35	chr2:36019600-36022800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:36019800-36020000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:36019800-36021000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:36020000-36020400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:36020200-36021000	Enhancers	HMEC	breast
40	chr2:36020400-36020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:36020400-36021000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:36021800-36023800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:36023000-36023200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:36023800-36027600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:36027600-36028000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:36032000-36033400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:36033400-36036400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:36036400-36036600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:36036600-36036800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:36036800-36037600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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