Variant report

Variant	nsv997683
Chromosome Location	chr2:55976574-56013875
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55994825..55997779-chr2:55998633..56001283,3	MCF-7	breast:
2	chr2:55998188..55999614-chr2:56188128..56189121,13	MCF-7	breast:
3	chr2:56001266..56003966-chr2:56005988..56008584,2	K562	blood:
4	chr2:56005948..56008265-chr2:56009209..56011349,2	MCF-7	breast:
5	chr2:56001266..56003966-chr2:56005988..56008584,2	K562	blood:
6	chr2:56001464..56004424-chr2:56185372..56187665,3	MCF-7	breast:
7	chr2:55994825..55997779-chr2:55998633..56001283,3	MCF-7	breast:
8	chr2:56008821..56010807-chr2:56013593..56015981,2	MCF-7	breast:
9	chr2:56013752..56016593-chr2:56035639..56038180,2	MCF-7	breast:
10	chr2:55942470..55944889-chr2:56004945..56007451,2	MCF-7	breast:
11	chr2:55998478..55999313-chr2:56236137..56237588,8	MCF-7	breast:
12	chr2:56004031..56006518-chr2:56068498..56070427,2	MCF-7	breast:
13	chr2:55977456..55979325-chr2:56414162..56415751,2	K562	blood:
14	chr2:56008821..56010807-chr2:56013593..56015981,2	MCF-7	breast:
15	chr2:56006332..56008999-chr2:56065171..56067853,3	MCF-7	breast:
16	chr2:55998494..55999415-chr2:56188226..56189063,2	MCF-7	breast:
17	chr2:55993449..55995609-chr2:56244406..56246687,2	MCF-7	breast:
18	chr2:55998660..55999310-chr2:56188089..56189086,3	K562	blood:
19	chr2:55998559..56000178-chr2:56148124..56150854,2	MCF-7	breast:
20	chr2:56006149..56008907-chr2:56021297..56024096,2	MCF-7	breast:
21	chr2:56011760..56013459-chr2:56019994..56021877,2	MCF-7	breast:
22	chr2:56005948..56008265-chr2:56009209..56011349,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115380	chromatin interactions

Extended variants
information (count: 1590 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1590 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557352373	chr2:55976585-55976586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185736405	chr2:55976613-55976614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540038456	chr2:55976648-55976649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553646022	chr2:55976672-55976673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572937501	chr2:55976677-55976678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528892536	chr2:55976685-55976686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540641200	chr2:55976690-55976691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376692450	chr2:55976707-55976708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541950381	chr2:55976754-55976755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190210802	chr2:55976764-55976765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576712813	chr2:55976773-55976774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575148343	chr2:55976777-55976778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182508107	chr2:55976793-55976794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367686250	chr2:55976806-55976807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62167673	chr2:55976844-55976845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs36170482	chr2:55976865-55976866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533298355	chr2:55976884-55976885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539996867	chr2:55976885-55976886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559917150	chr2:55976923-55976924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111670483	chr2:55976924-55976925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146199321	chr2:55976961-55976962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562820274	chr2:55976994-55976995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568572319	chr2:55976999-55977000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139116979	chr2:55977003-55977004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530754737	chr2:55977031-55977032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571049640	chr2:55977053-55977054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540148411	chr2:55977089-55977090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562680755	chr2:55977094-55977095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142317629	chr2:55977107-55977108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535509119	chr2:55977109-55977110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531617159	chr2:55977113-55977114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575325369	chr2:55977116-55977117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537432678	chr2:55977129-55977130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34744531	chr2:55977157-55977158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529751685	chr2:55977158-55977159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557743704	chr2:55977170-55977171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577467721	chr2:55977183-55977184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368239481	chr2:55977190-55977191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540157898	chr2:55977226-55977227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551190903	chr2:55977234-55977235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544087399	chr2:55977257-55977258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114137816	chr2:55977263-55977264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72814212	chr2:55977320-55977321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531078439	chr2:55977321-55977322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550663554	chr2:55977331-55977332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536146856	chr2:55977371-55977372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs70954154	chr2:55977372-55977373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397984653	chr2:55977384-55977385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72814213	chr2:55977385-55977386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186786869	chr2:55977390-55977391	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
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55972200-55986600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:55979200-55979600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:55985200-55987000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:55985400-55991200	Enhancers	HMEC	breast
5	chr2:55985600-55987000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:55986200-55986600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:55986200-55986800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:55986200-55987000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:55986200-55987000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:55986200-55987000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:55986200-55987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:55986200-55989600	Enhancers	NHEK	skin
13	chr2:55986400-55986600	Enhancers	Aorta	Aorta
14	chr2:55986400-55986800	Enhancers	Brain Hippocampus Middle	brain
15	chr2:55986400-55987000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr2:55986400-55987000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:55986400-55987000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:55986400-55987000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:55986400-55987000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:55986400-55987200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:55986400-55989600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:55986600-55987000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:55986600-55987400	Enhancers	HSMM	muscle
24	chr2:55986600-55987400	Enhancers	HSMMtube	muscle
25	chr2:55986600-55988600	Weak transcription	Aorta	Aorta
26	chr2:55986600-55990000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:55986800-55987000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:55986800-55987400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:55986800-55988000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:55986800-55988800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:55987000-55987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:55987000-55987400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:55987200-55988200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:55987200-55988200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:55987400-55987800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:55987400-55987800	Weak transcription	HSMM	muscle
37	chr2:55987400-55987800	Weak transcription	HSMMtube	muscle
38	chr2:55987400-55991400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:55987800-55988400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:55987800-55988600	Enhancers	HSMMtube	muscle
41	chr2:55987800-55989400	Enhancers	Adipose Nuclei	Adipose
42	chr2:55987800-55990200	Enhancers	HSMM	muscle
43	chr2:55988000-55988200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:55988000-55988800	Enhancers	HUVEC	blood vessel
45	chr2:55988000-55989600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:55988200-55988400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:55988200-55989600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:55988200-55990000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:55988400-55988600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:55988400-55988800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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