Variant report

Variant	nsv470465
Chromosome Location	chr2:55010115-55034113
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55008139..55011075-chr2:55013927..55016853,2	K562	blood:
2	chr2:55030989..55033813-chr2:55035805..55037701,2	K562	blood:
3	chr2:55013900..55016291-chr2:55017771..55020544,3	MCF-7	breast:
4	chr2:55030699..55032489-chr2:55035995..55037701,2	K562	blood:
5	chr2:55010731..55013685-chr2:55129900..55132615,2	K562	blood:
6	chr2:55013900..55016291-chr2:55017771..55020544,3	MCF-7	breast:
7	chr2:55008139..55011075-chr2:55013927..55016853,2	K562	blood:
8	chr19:3989800..3990365-chr2:55028993..55029496,2	MCF-7	breast:

No data

Extended variants
information (count: 1127 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1127 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13033894	chr2:55010115-55010116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6705079	chr2:55010193-55010194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs547579729	chr2:55010199-55010200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6704882	chr2:55010223-55010224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536333190	chr2:55010224-55010225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73936464	chr2:55010233-55010234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs368741838	chr2:55010239-55010240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576380177	chr2:55010240-55010241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538983503	chr2:55010252-55010253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558125504	chr2:55010264-55010265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142900700	chr2:55010308-55010309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62136881	chr2:55010334-55010335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560376286	chr2:55010341-55010342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111347050	chr2:55010355-55010356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575791212	chr2:55010405-55010406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542382313	chr2:55010431-55010432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562555528	chr2:55010459-55010460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531216023	chr2:55010545-55010546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368801577	chr2:55010548-55010549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550949569	chr2:55010588-55010589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565282220	chr2:55010601-55010602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527956482	chr2:55010610-55010611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547618346	chr2:55010622-55010623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567777659	chr2:55010632-55010633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546349717	chr2:55010676-55010677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550017741	chr2:55010685-55010686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200672653	chr2:55010760-55010761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11448570	chr2:55010762-55010763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs33934597	chr2:55010763-55010764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570126942	chr2:55010766-55010767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368807585	chr2:55010801-55010802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565870832	chr2:55010855-55010856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558970291	chr2:55010865-55010866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367924353	chr2:55010889-55010890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558545503	chr2:55010911-55010912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571605901	chr2:55010930-55010931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150003840	chr2:55010961-55010962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56113416	chr2:55010989-55010990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs573758637	chr2:55011022-55011023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185546501	chr2:55011031-55011032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534761666	chr2:55011071-55011072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114257409	chr2:55011124-55011125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556023362	chr2:55011139-55011140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554520577	chr2:55011140-55011141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113195649	chr2:55011145-55011146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544630786	chr2:55011149-55011150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564522645	chr2:55011230-55011231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113485435	chr2:55011239-55011240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13396649	chr2:55011244-55011245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561579985	chr2:55011255-55011256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
XY gonadal dysgenesis	20685758	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55009800-55010200	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:55010200-55012000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:55012000-55015200	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:55013200-55014000	Enhancers	HepG2	liver
5	chr2:55013600-55013800	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr2:55013600-55014200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:55013600-55015400	Enhancers	Pancreas	Pancrea
8	chr2:55014000-55014600	Enhancers	Gastric	stomach
9	chr2:55014600-55015000	Weak transcription	Gastric	stomach
10	chr2:55015000-55015400	Enhancers	Gastric	stomach
11	chr2:55015200-55015800	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr2:55015800-55016200	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:55016200-55017000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:55017000-55017200	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:55017000-55017400	Enhancers	A549	lung
16	chr2:55020800-55021000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:55020800-55021000	Enhancers	HSMMtube	muscle
18	chr2:55020800-55021200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:55021000-55021400	Enhancers	Brain Angular Gyrus	brain
20	chr2:55021000-55021600	Weak transcription	HSMMtube	muscle
21	chr2:55021000-55022600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:55021200-55021800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:55021600-55021800	Enhancers	HSMMtube	muscle
24	chr2:55021800-55024800	Weak transcription	HSMMtube	muscle
25	chr2:55022000-55022200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:55022200-55031200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:55022600-55022800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:55028400-55029200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:55028400-55029200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:55028400-55029200	Enhancers	HepG2	liver
31	chr2:55028400-55029600	Enhancers	Brain Germinal Matrix	brain
32	chr2:55028600-55029200	Enhancers	Brain Substantia Nigra	brain
33	chr2:55029600-55030000	Weak transcription	Brain Germinal Matrix	brain
34	chr2:55030000-55032000	Enhancers	Brain Germinal Matrix	brain
35	chr2:55030200-55031800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:55030200-55031800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:55030400-55030600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:55030400-55031600	Enhancers	Fetal Brain Female	brain
39	chr2:55030400-55032000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:55030800-55031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:55031000-55031400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:55031000-55031600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr2:55031000-55032000	Enhancers	NHDF-Ad	bronchial
44	chr2:55031200-55031400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:55031200-55031400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:55031200-55031600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:55031200-55031800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:55031400-55031800	Enhancers	NHEK	skin
49	chr2:55031400-55032000	Enhancers	Dnd41	blood
50	chr2:55031600-55032200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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