Variant report

Variant	nsv979288
Chromosome Location	chr2:57989449-58001726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:57992915-57993112	HepG2	liver:	n/a	chr2:57993006-57993015 chr2:57993004-57993017 chr2:57993006-57993015 chr2:57993006-57993015
2	CTCF	chr2:57989820-57989970	AG04449	skin:	n/a	n/a
3	CTCF	chr2:57992800-57992950	HepG2	liver:	n/a	n/a
4	EP300	chr2:57989738-57989827	K562	blood:	n/a	n/a
5	GATA3	chr2:57990582-57990880	SH-SY5Y	brain:	n/a	n/a
6	MAFK	chr2:57995574-57995845	HepG2	liver:	n/a	n/a
7	MAFK	chr2:57995567-57995777	HepG2	liver:	n/a	n/a
8	MAX	chr2:57989332-57989532	NB4	blood:	n/a	chr2:57989435-57989445
9	MYC	chr2:57992983-57993049	MCF-7	breast:	n/a	n/a
10	POLR2A	chr2:57994114-57994134	ProgFib	skin:	n/a	n/a
11	POLR2A	chr2:57994081-57994085	ProgFib	skin:	n/a	n/a
12	POLR2A	chr2:57994142-57994158	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr2:57992966-57993118	A549	lung:	n/a	n/a
14	POLR2A	chr2:57997467-57997731	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr2:57994162-57994214	ProgFib	skin:	n/a	n/a
16	RCOR1	chr2:57996879-57996926	K562	blood:	n/a	n/a
17	SMC3	chr2:57994304-57994311	HepG2	liver:	n/a	n/a
18	WRNIP1	chr2:57996981-57997085	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:57988189..57989874-chr2:57990120..57992632,2	K562	blood:
2	chr2:57988184..57990505-chr2:57993308..57996155,2	K562	blood:
3	chr2:57988184..57990505-chr2:57993308..57996155,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-10	chr2:57991847-57992345	NONHSAT070842

Variant related genes	Relation type
ENSG00000271615	TF binding region
ENSG00000271615	chromatin interactions

Extended variants
information (count: 475 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574795987	chr2:57989475-57989476	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548224924	chr2:57989495-57989496	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372239500	chr2:57989514-57989515	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569047322	chr2:57989576-57989577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536429766	chr2:57989594-57989595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs56199322	chr2:57989621-57989622	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573167513	chr2:57989650-57989651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144687827	chr2:57989664-57989665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552887785	chr2:57989707-57989708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375912447	chr2:57989755-57989756	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577562109	chr2:57989759-57989760	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368847083	chr2:57989760-57989761	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185842113	chr2:57989767-57989768	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576853322	chr2:57989783-57989784	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542812811	chr2:57989800-57989801	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561075571	chr2:57989816-57989817	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183200276	chr2:57989827-57989828	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs59146679	chr2:57989836-57989837	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147909861	chr2:57989844-57989845	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532388500	chr2:57989850-57989851	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550591777	chr2:57989854-57989855	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371629124	chr2:57989868-57989869	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35442738	chr2:57989936-57989937	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536362880	chr2:57989984-57989985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554703217	chr2:57990000-57990001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566955660	chr2:57990001-57990002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76456440	chr2:57990004-57990005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373726836	chr2:57990005-57990006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558975776	chr2:57990066-57990067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187864493	chr2:57990098-57990099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138000263	chr2:57990158-57990159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538616324	chr2:57990165-57990166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376696339	chr2:57990213-57990214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557018038	chr2:57990230-57990231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370150316	chr2:57990347-57990348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575373746	chr2:57990350-57990351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542751460	chr2:57990357-57990358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561016344	chr2:57990371-57990372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529749297	chr2:57990399-57990400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78193107	chr2:57990425-57990426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569654205	chr2:57990428-57990429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143138318	chr2:57990445-57990446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532462255	chr2:57990475-57990476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550526536	chr2:57990482-57990483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562552326	chr2:57990494-57990495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373326467	chr2:57990541-57990542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548275202	chr2:57990548-57990549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148257481	chr2:57990549-57990550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191824916	chr2:57990608-57990609	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs552765398	chr2:57990658-57990659	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57987400-58009800	Weak transcription	Pancreas	Pancrea
2	chr2:57987800-57994600	Weak transcription	Thymus	Thymus
3	chr2:57989400-57990000	Weak transcription	K562	blood
4	chr2:57990000-57990200	Enhancers	K562	blood

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