Variant report

Variant	nsv817717
Chromosome Location	chr2:34634302-34642175
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	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:

Extended variants
information (count: 236 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1368932	chr2:34634302-34634303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537375653	chr2:34634309-34634310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150697886	chr2:34634382-34634383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71449518	chr2:34636409-34636410	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182592990	chr2:34636433-34636434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536287906	chr2:34636459-34636460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555898360	chr2:34636473-34636474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs151224609	chr2:34636474-34636475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs140252366	chr2:34636502-34636503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557896591	chr2:34636581-34636582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs577850637	chr2:34636626-34636627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs540503375	chr2:34636677-34636678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576923355	chr2:34636720-34636721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs371117026	chr2:34636721-34636722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs78279269	chr2:34636742-34636743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs367949160	chr2:34636764-34636765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs150349865	chr2:34636799-34636800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147626355	chr2:34636809-34636810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186225362	chr2:34636817-34636818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541972720	chr2:34636830-34636831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190696683	chr2:34636837-34636838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11895608	chr2:34636983-34636984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545531749	chr2:34637014-34637015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141635537	chr2:34637045-34637046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182923517	chr2:34637060-34637061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147069206	chr2:34637081-34637082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17015228	chr2:34637153-34637154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188776673	chr2:34637162-34637163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529951337	chr2:34637192-34637193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114789923	chr2:34637206-34637207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569566904	chr2:34637250-34637251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563314894	chr2:34637253-34637254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564751254	chr2:34637329-34637330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371647412	chr2:34637367-34637368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371312730	chr2:34637389-34637390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560835663	chr2:34637403-34637404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558258984	chr2:34637408-34637409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571503830	chr2:34637412-34637413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56402625	chr2:34637418-34637419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554079516	chr2:34637429-34637430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574227027	chr2:34637433-34637434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376071285	chr2:34637439-34637440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146641169	chr2:34637459-34637460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs70940255	chr2:34637478-34637479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369330987	chr2:34637506-34637507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149566077	chr2:34637513-34637514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59317727	chr2:34637535-34637536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372037031	chr2:34637543-34637544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375663690	chr2:34637544-34637545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369752659	chr2:34637559-34637560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34633200-34634400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:34636400-34636800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:34636800-34641800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:34638800-34640400	Enhancers	Brain Germinal Matrix	brain
5	chr2:34639200-34640800	Enhancers	Fetal Brain Female	brain
6	chr2:34639400-34642800	Enhancers	Fetal Brain Male	brain
7	chr2:34640800-34642000	Weak transcription	Fetal Brain Female	brain
8	chr2:34641200-34642000	Enhancers	Colon Smooth Muscle	Colon
9	chr2:34642000-34642200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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