Variant report

Variant	nsv1002822
Chromosome Location	chr2:76885103-76940701
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	chr2:76886401..76888987-chr2:76909851..76912753,2	K562	blood:
2	chr2:76886401..76888987-chr2:76909851..76912753,2	K562	blood:

Extended variants
information (count: 2716 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2716 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149880678	chr2:76891286-76891287	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560970215	chr2:76891292-76891293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs2860830	chr2:76891296-76891297	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs6757786	chr2:76891314-76891315	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532846697	chr2:76891334-76891335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs114752307	chr2:76891382-76891383	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547607672	chr2:76891434-76891435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147574862	chr2:76891446-76891447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141939059	chr2:76891598-76891599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370345971	chr2:76891607-76891608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146233998	chr2:76891618-76891619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569684489	chr2:76891631-76891632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188896574	chr2:76891632-76891633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548380065	chr2:76891649-76891650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556898205	chr2:76891756-76891757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578225848	chr2:76891782-76891783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538842711	chr2:76891792-76891793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570313159	chr2:76891802-76891803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551086458	chr2:76891807-76891808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113371530	chr2:76891836-76891837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138895353	chr2:76891848-76891849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554504890	chr2:76891851-76891852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191229319	chr2:76891864-76891865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543460900	chr2:76891867-76891868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376386348	chr2:76891883-76891884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564825682	chr2:76891899-76891900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113705429	chr2:76891902-76891903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540844087	chr2:76891935-76891936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559518624	chr2:76891956-76891957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113136381	chr2:76891997-76891998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548314287	chr2:76892147-76892148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143527031	chr2:76892197-76892198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13405804	chr2:76892232-76892233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566967185	chr2:76892258-76892259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571826554	chr2:76892292-76892293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539342880	chr2:76892301-76892302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182342381	chr2:76892316-76892317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13392417	chr2:76892348-76892349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536301794	chr2:76892369-76892370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534783042	chr2:76892420-76892421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187009178	chr2:76892451-76892452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13417876	chr2:76892452-76892453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368700043	chr2:76892470-76892471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558935568	chr2:76892479-76892480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73938490	chr2:76892496-76892497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541332815	chr2:76892505-76892506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73938491	chr2:76892509-76892510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148328152	chr2:76892527-76892528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542093079	chr2:76892536-76892537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545497151	chr2:76892538-76892539	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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76891200-76891400	Active TSS	Fetal Brain Male	brain
2	chr2:76891400-76894800	Weak transcription	Fetal Brain Male	brain
3	chr2:76892600-76902400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:76894400-76895800	Enhancers	Fetal Heart	heart
5	chr2:76894600-76895000	Enhancers	Colon Smooth Muscle	Colon
6	chr2:76894600-76895400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:76894600-76898000	Enhancers	Fetal Brain Female	brain
8	chr2:76894800-76895000	Enhancers	Left Ventricle	heart
9	chr2:76894800-76895200	Enhancers	Fetal Stomach	stomach
10	chr2:76894800-76895200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:76894800-76895200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr2:76894800-76895400	Enhancers	Fetal Muscle Leg	muscle
13	chr2:76894800-76898400	Enhancers	Fetal Brain Male	brain
14	chr2:76894800-76898600	Enhancers	Fetal Lung	lung
15	chr2:76895000-76895200	Enhancers	Fetal Kidney	kidney
16	chr2:76895000-76895400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:76895000-76895400	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:76895000-76895800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:76895200-76895800	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:76895400-76895800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:76895400-76896400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:76895800-76896000	Flanking Active TSS	Fetal Heart	heart
23	chr2:76895800-76896000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:76895800-76897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:76896000-76898000	Enhancers	Fetal Heart	heart
26	chr2:76896000-76899400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:76896400-76896600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:76896400-76896600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:76896400-76896600	Enhancers	Fetal Kidney	kidney
30	chr2:76896600-76897000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:76896600-76897200	Weak transcription	Fetal Kidney	kidney
32	chr2:76897000-76897600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:76897200-76897400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:76897200-76897600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:76897200-76897600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:76897200-76897800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:76897200-76897800	Enhancers	Brain Germinal Matrix	brain
38	chr2:76897400-76897600	Enhancers	Fetal Kidney	kidney
39	chr2:76897800-76898600	Enhancers	Duodenum Mucosa	Duodenum
40	chr2:76898000-76901200	Weak transcription	Fetal Brain Female	brain
41	chr2:76898400-76900800	Weak transcription	Fetal Brain Male	brain
42	chr2:76898600-76899000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:76898600-76905400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:76899000-76900000	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:76899400-76900000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr2:76899600-76900200	Enhancers	Stomach Mucosa	stomach
47	chr2:76900000-76901000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:76900000-76905600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr2:76900200-76901600	Weak transcription	Stomach Mucosa	stomach
50	chr2:76900800-76903400	Enhancers	Fetal Brain Male	brain

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