Variant report

Variant	esv2756922
Chromosome Location	chr2:57382439-57441811
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56410837..56411593-chr2:57429009..57429668,2	MCF-7	breast:
2	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:
3	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-4	chr2:57419954-57420014	ENSG00000255922
2	lnc-VRK2-4	chr2:57422543-57422644	ENSG00000255922
3	lnc-VRK2-4	chr2:57425380-57425788	ENSG00000255922

No data

Variant related genes	Relation type
ENSG00000055813	chromatin interactions

Extended variants
information (count: 1734 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1734 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141306739	chr2:57383003-57383004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372461728	chr2:57383005-57383006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192431959	chr2:57383019-57383020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6729156	chr2:57383028-57383029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185796516	chr2:57383029-57383030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6732134	chr2:57383073-57383074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76748546	chr2:57383083-57383084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147408631	chr2:57383113-57383114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3948495	chr2:57383133-57383134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551071882	chr2:57383134-57383135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371838695	chr2:57383190-57383191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570865457	chr2:57383283-57383284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138084726	chr2:57383296-57383297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115159751	chr2:57383303-57383304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567041077	chr2:57383307-57383308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536177348	chr2:57383314-57383315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78263530	chr2:57383331-57383332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147268354	chr2:57383375-57383376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544675298	chr2:57383411-57383412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558284658	chr2:57383428-57383429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552560408	chr2:57383455-57383456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540282466	chr2:57383459-57383460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114434809	chr2:57383525-57383526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149348971	chr2:57383544-57383545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188860186	chr2:57383637-57383638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538662866	chr2:57383644-57383645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548534883	chr2:57383683-57383684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370799957	chr2:57383684-57383685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62158438	chr2:57383697-57383698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs207461790	chr2:57383703-57383704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535742454	chr2:57383718-57383719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144652072	chr2:57383772-57383773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527418653	chr2:57383814-57383815	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192582614	chr2:57383850-57383851	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547057867	chr2:57383876-57383877	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116384098	chr2:57383903-57383904	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567303188	chr2:57383973-57383974	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112701663	chr2:57383974-57383975	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371876268	chr2:57383979-57383980	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184368532	chr2:57384072-57384073	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6723032	chr2:57384080-57384081	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148587773	chr2:57384097-57384098	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538461146	chr2:57384110-57384111	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371665399	chr2:57384117-57384118	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77019657	chr2:57384119-57384120	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558835055	chr2:57384125-57384126	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534329502	chr2:57384126-57384127	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188667628	chr2:57384127-57384128	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146615507	chr2:57384131-57384132	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542467267	chr2:57384150-57384151	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57383000-57383400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:57383200-57383800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:57383200-57384000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:57383600-57384400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:57383800-57384000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:57383800-57384200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr2:57384000-57385000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:57385000-57385400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:57387600-57389600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:57388000-57389400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:57389400-57390400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:57390400-57392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:57395400-57396200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:57398400-57398800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:57399000-57401600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:57402800-57403000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:57405200-57405600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:57405200-57405600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:57405600-57406800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:57406000-57406800	Enhancers	HUVEC	blood vessel
21	chr2:57406600-57407600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:57406600-57410000	Enhancers	HMEC	breast
23	chr2:57406600-57410200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:57406600-57410400	Enhancers	NHEK	skin
25	chr2:57406600-57410800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:57406800-57407200	Enhancers	NHDF-Ad	bronchial
27	chr2:57406800-57407400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:57406800-57407400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:57406800-57407600	Enhancers	HSMMtube	muscle
30	chr2:57406800-57407600	Flanking Active TSS	HUVEC	blood vessel
31	chr2:57406800-57407800	Enhancers	NH-A	brain
32	chr2:57406800-57411400	Enhancers	HSMM	muscle
33	chr2:57407000-57409000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:57407200-57409800	Weak transcription	NHDF-Ad	bronchial
35	chr2:57407400-57408000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:57407400-57408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:57407400-57409400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:57407600-57408600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:57407600-57409800	Weak transcription	HSMMtube	muscle
40	chr2:57407600-57410200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:57407600-57410600	Enhancers	HUVEC	blood vessel
42	chr2:57407800-57408400	Weak transcription	NH-A	brain
43	chr2:57408000-57408400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:57408200-57409000	Enhancers	Fetal Heart	heart
45	chr2:57408400-57409800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:57408400-57410000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:57408400-57410000	Enhancers	NH-A	brain
48	chr2:57408400-57410400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:57408600-57409600	Enhancers	Hela-S3	cervix
50	chr2:57408600-57410000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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