Variant report

Variant	esv2757801
Chromosome Location	chr2:57284531-57488396
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:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:57486573..57488689-chr2:57490397..57492047,2	K562	blood:
2	chr2:57037052..57037562-chr2:57367504..57368073,2	MCF-7	breast:
3	chr2:50393423..50394149-chr2:57299588..57300484,2	MCF-7	breast:
4	chr2:57359385..57360901-chr2:57363055..57366048,2	MCF-7	breast:
5	chr2:56410837..56411593-chr2:57429009..57429668,2	MCF-7	breast:
6	chr2:57298072..57298949-chr7:67013799..67014465,2	MCF-7	breast:
7	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
8	chr2:57361348..57363716-chr2:57369753..57372552,2	K562	blood:
9	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
10	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:
11	chr2:57361348..57363716-chr2:57369753..57372552,2	K562	blood:
12	chr2:57334344..57336154-chr2:57336415..57339096,2	K562	blood:
13	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:
14	chr2:56409694..56412486-chr2:57365790..57369711,3	MCF-7	breast:
15	chr2:57359385..57360901-chr2:57363055..57366048,2	MCF-7	breast:
16	chr2:57334344..57336154-chr2:57336415..57339096,2	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000055813	chromatin interactions
ENSG00000233251	chromatin interactions

Extended variants
information (count: 2830 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2830 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146852135	chr2:57302013-57302014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116045654	chr2:57302070-57302071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140655729	chr2:57302086-57302087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189767800	chr2:57302095-57302096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574791131	chr2:57302098-57302099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182429374	chr2:57302100-57302101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375723935	chr2:57302118-57302119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532770373	chr2:57302133-57302134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58813007	chr2:57302150-57302151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559903503	chr2:57302157-57302158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528454943	chr2:57302165-57302166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77644448	chr2:57302189-57302190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568507208	chr2:57302211-57302212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1424640	chr2:57302220-57302221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138588605	chr2:57302245-57302246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570523702	chr2:57302276-57302277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539632942	chr2:57302287-57302288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186922307	chr2:57302293-57302294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546992614	chr2:57302313-57302314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566234856	chr2:57302314-57302315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111993503	chr2:57302332-57302333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554936261	chr2:57302366-57302367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534214823	chr2:57302375-57302376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149255721	chr2:57302399-57302400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543736267	chr2:57302427-57302428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557658102	chr2:57302434-57302435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74769133	chr2:57302461-57302462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554055435	chr2:57302469-57302470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117200209	chr2:57302498-57302499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78885865	chr2:57302510-57302511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528586044	chr2:57302531-57302532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76217848	chr2:57302559-57302560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143451030	chr2:57302579-57302580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562039875	chr2:57302630-57302631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199856710	chr2:57302682-57302683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs67482170	chr2:57302683-57302684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549745994	chr2:57302744-57302745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536673688	chr2:57302776-57302777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550563872	chr2:57302799-57302800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570731700	chr2:57302818-57302819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371080734	chr2:57302874-57302875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546388258	chr2:57302888-57302889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563377727	chr2:57302906-57302907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532258498	chr2:57302930-57302931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191825802	chr2:57302935-57302936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565679577	chr2:57302936-57302937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555073848	chr2:57302976-57302977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6719700	chr2:57302985-57302986	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537864148	chr2:57302986-57302987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367656202	chr2:57303006-57303007	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57302000-57302400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:57302000-57303000	Enhancers	NHEK	skin
3	chr2:57302200-57302600	Enhancers	HMEC	breast
4	chr2:57302400-57304600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:57304600-57307000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:57306800-57307400	Enhancers	A549	lung
7	chr2:57307000-57307400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:57311200-57311800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:57332200-57333600	Enhancers	Fetal Intestine Large	intestine
10	chr2:57332400-57332600	Enhancers	Liver	Liver
11	chr2:57332800-57334000	Weak transcription	Liver	Liver
12	chr2:57333600-57334600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:57334000-57335200	Enhancers	Liver	Liver
14	chr2:57334600-57334800	Enhancers	Fetal Intestine Large	intestine
15	chr2:57343800-57344400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:57353800-57354400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:57367800-57369200	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:57369800-57370400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:57383000-57383400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:57383200-57383800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:57383200-57384000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:57383600-57384400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:57383800-57384000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:57383800-57384200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr2:57384000-57385000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:57385000-57385400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:57387600-57389600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:57388000-57389400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:57389400-57390400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:57390400-57392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:57395400-57396200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:57398400-57398800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:57399000-57401600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:57402800-57403000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:57405200-57405600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:57405200-57405600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:57405600-57406800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:57406000-57406800	Enhancers	HUVEC	blood vessel
39	chr2:57406600-57407600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:57406600-57410000	Enhancers	HMEC	breast
41	chr2:57406600-57410200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:57406600-57410400	Enhancers	NHEK	skin
43	chr2:57406600-57410800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:57406800-57407200	Enhancers	NHDF-Ad	bronchial
45	chr2:57406800-57407400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:57406800-57407400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:57406800-57407600	Enhancers	HSMMtube	muscle
48	chr2:57406800-57407600	Flanking Active TSS	HUVEC	blood vessel
49	chr2:57406800-57407800	Enhancers	NH-A	brain
50	chr2:57406800-57411400	Enhancers	HSMM	muscle

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