Variant report

Variant	nsv1012681
Chromosome Location	chr2:35097212-35186606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:
2	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:
3	chr2:35130281..35132812-chr2:35144803..35146892,2	K562	blood:
4	chr2:35152123..35154075-chr2:35162750..35165499,2	K562	blood:
5	chr2:35152123..35154075-chr2:35162750..35165499,2	K562	blood:
6	chr2:35130362..35133238-chr2:35148535..35150812,2	K562	blood:
7	chr2:35130281..35132812-chr2:35144803..35146892,2	K562	blood:
8	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:
9	chr2:35130362..35133238-chr2:35148535..35150812,2	K562	blood:

No data

Extended variants
information (count: 1265 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1265 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546692525	chr2:35097223-35097224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186181354	chr2:35097301-35097302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191927714	chr2:35097311-35097312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201833744	chr2:35097314-35097315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13391092	chr2:35097331-35097332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138567957	chr2:35097348-35097349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75443012	chr2:35097401-35097402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548435579	chr2:35097454-35097455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115966563	chr2:35097488-35097489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537970791	chr2:35097495-35097496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17015750	chr2:35097515-35097516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537374910	chr2:35097581-35097582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557255792	chr2:35097619-35097620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577384763	chr2:35097625-35097626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181507945	chr2:35097628-35097629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553433277	chr2:35097667-35097668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17015752	chr2:35097668-35097669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542233675	chr2:35097672-35097673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17326230	chr2:35097701-35097702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140676170	chr2:35097705-35097706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544531638	chr2:35097724-35097725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564095796	chr2:35097725-35097726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533176498	chr2:35097728-35097729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546332215	chr2:35097729-35097730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78400657	chr2:35097735-35097736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143480018	chr2:35097755-35097756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528996498	chr2:35097811-35097812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116761633	chr2:35097828-35097829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186521068	chr2:35097845-35097846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568547010	chr2:35097874-35097875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376024767	chr2:35097875-35097876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553758431	chr2:35097893-35097894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150952804	chr2:35097894-35097895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190980223	chr2:35097909-35097910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540031671	chr2:35097924-35097925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553328246	chr2:35098050-35098051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13419991	chr2:35098083-35098084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535980491	chr2:35098105-35098106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572382769	chr2:35098109-35098110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370262455	chr2:35098137-35098138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74704745	chr2:35098141-35098142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555785415	chr2:35098177-35098178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182463283	chr2:35098192-35098193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544153122	chr2:35098208-35098209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187865446	chr2:35098240-35098241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577723002	chr2:35098255-35098256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536938282	chr2:35098292-35098293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540414198	chr2:35098303-35098304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371088866	chr2:35098305-35098306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559963790	chr2:35098308-35098309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35095600-35100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:35097600-35098600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:35098600-35098800	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:35098800-35099600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:35098800-35099800	Enhancers	Brain Substantia Nigra	brain
6	chr2:35098800-35100200	Enhancers	Brain Angular Gyrus	brain
7	chr2:35098800-35100200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:35099000-35100200	Enhancers	Brain Hippocampus Middle	brain
9	chr2:35099200-35100200	Enhancers	Brain Germinal Matrix	brain
10	chr2:35099400-35100800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:35099600-35100000	Enhancers	Stomach Mucosa	stomach
12	chr2:35099600-35100800	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:35099800-35100800	Active TSS	Brain Substantia Nigra	brain
14	chr2:35100000-35100200	Enhancers	Brain Anterior Caudate	brain
15	chr2:35100200-35100400	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr2:35100200-35100400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:35100200-35100600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:35100200-35100600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr2:35100200-35100600	Enhancers	Fetal Lung	lung
20	chr2:35100200-35100600	Active TSS	Stomach Smooth Muscle	stomach
21	chr2:35100200-35100800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:35100200-35100800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:35100200-35100800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:35100200-35100800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:35100200-35100800	Active TSS	Brain Angular Gyrus	brain
26	chr2:35100200-35100800	Active TSS	Brain Hippocampus Middle	brain
27	chr2:35100200-35100800	Active TSS	Right Atrium	heart
28	chr2:35100400-35100800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:35100400-35100800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:35100400-35100800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:35100400-35100800	Active TSS	Brain Anterior Caudate	brain
32	chr2:35100400-35100800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:35100600-35100800	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:35100800-35102400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:35100800-35102600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:35100800-35102600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:35100800-35104800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:35102400-35102600	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:35102400-35102800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:35102600-35103200	Enhancers	Brain Substantia Nigra	brain
41	chr2:35102600-35105000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:35104800-35105000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:35112400-35113200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:35113000-35113400	Active TSS	Pancreas	Pancrea
45	chr2:35116000-35116200	Enhancers	Brain Germinal Matrix	brain
46	chr2:35116000-35116200	Enhancers	Colon Smooth Muscle	Colon
47	chr2:35116200-35117400	Weak transcription	Brain Germinal Matrix	brain
48	chr2:35116800-35119000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:35117400-35118200	Enhancers	Brain Germinal Matrix	brain
50	chr2:35117400-35119000	Enhancers	Fetal Brain Female	brain

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