Variant report

Variant	nsv874179
Chromosome Location	chr2:56817927-56957466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56940349..56941971-chr2:56943071..56945568,2	MCF-7	breast:
2	chr2:56919330..56921444-chr2:57050867..57052484,2	MCF-7	breast:
3	chr2:56880116..56881952-chr2:56892431..56894900,2	MCF-7	breast:
4	chr15:65596956..65597465-chr2:56867065..56867565,2	NB4	blood:
5	chr2:56940349..56941971-chr2:56943071..56945568,2	MCF-7	breast:
6	chr2:56880116..56881952-chr2:56892431..56894900,2	MCF-7	breast:
7	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200156	chromatin interactions

Extended variants
information (count: 2851 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2851 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17048231	chr2:56817927-56817928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557961804	chr2:56817930-56817931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116194564	chr2:56817966-56817967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188549196	chr2:56817970-56817971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566217975	chr2:56817987-56817988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553973140	chr2:56818061-56818062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533954268	chr2:56818072-56818073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181500075	chr2:56818108-56818109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200979709	chr2:56818109-56818110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369946197	chr2:56818110-56818111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147442994	chr2:56818135-56818136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547636455	chr2:56818140-56818141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186929155	chr2:56818169-56818170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376960809	chr2:56818198-56818199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570385447	chr2:56818204-56818205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190169002	chr2:56818237-56818238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545019703	chr2:56818265-56818266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112088332	chr2:56818281-56818282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182291415	chr2:56818294-56818295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547114167	chr2:56818315-56818316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560268331	chr2:56818316-56818317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374713396	chr2:56818323-56818324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539930177	chr2:56818332-56818333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34273572	chr2:56818370-56818371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186547299	chr2:56818375-56818376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549402688	chr2:56818376-56818377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113525930	chr2:56818440-56818441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569580616	chr2:56818443-56818444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369128725	chr2:56818512-56818513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531585456	chr2:56818550-56818551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143662049	chr2:56818619-56818620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13406187	chr2:56818639-56818640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147195978	chr2:56818707-56818708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554309556	chr2:56818745-56818746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116576731	chr2:56818771-56818772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536483705	chr2:56818793-56818794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556166020	chr2:56818812-56818813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538290143	chr2:56818817-56818818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61403966	chr2:56818834-56818835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558103481	chr2:56818881-56818882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115105829	chr2:56818904-56818905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541195551	chr2:56818916-56818917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540686279	chr2:56818998-56818999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560691392	chr2:56819055-56819056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35372397	chr2:56819084-56819085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529462706	chr2:56819086-56819087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189717756	chr2:56819100-56819101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372269710	chr2:56819129-56819130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139554600	chr2:56819144-56819145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149799171	chr2:56819147-56819148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56814800-56818000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:56817200-56820000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:56817800-56820200	Weak transcription	Adipose Nuclei	Adipose
4	chr2:56817800-56820400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:56818000-56818200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:56820000-56820200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:56820200-56820800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:56820200-56821000	Enhancers	Adipose Nuclei	Adipose
9	chr2:56820400-56820800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:56820400-56820800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56820400-56820800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:56820600-56820800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:56820800-56821000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:56821000-56822200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:56821000-56822200	Weak transcription	Adipose Nuclei	Adipose
16	chr2:56822200-56822400	Enhancers	Adipose Nuclei	Adipose
17	chr2:56822200-56823200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:56833400-56833600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:56835600-56835800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:56836200-56837400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:56837200-56837600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:56837400-56838200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:56837600-56838000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:56837600-56838400	Enhancers	HSMM	muscle
25	chr2:56838200-56840800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:56838400-56840600	Weak transcription	HSMM	muscle
27	chr2:56840600-56841600	Enhancers	HSMM	muscle
28	chr2:56840800-56841600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:56841400-56841600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:56841600-56842600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:56842600-56843000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:56842800-56843600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:56869400-56869600	Active TSS	Fetal Heart	heart
34	chr2:56869400-56870000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:56869400-56870200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr2:56869600-56870000	Flanking Active TSS	Fetal Heart	heart
37	chr2:56870000-56870200	Enhancers	Fetal Heart	heart
38	chr2:56879000-56879800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:56879200-56879600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr2:56879400-56879600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:56884000-56884400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:56892000-56892800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:56895400-56896000	Enhancers	Adipose Nuclei	Adipose
44	chr2:56896000-56898800	Weak transcription	Adipose Nuclei	Adipose
45	chr2:56898800-56900200	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr2:56899400-56899800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr2:56899400-56900000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:56899400-56900000	ZNF genes & repeats	Gastric	stomach
49	chr2:56899400-56900600	ZNF genes & repeats	Pancreas	Pancrea
50	chr2:56899600-56900600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin

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