Variant report

Variant	nsv527200
Chromosome Location	chr2:62751619-62758044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:62750475..62752947-chr2:62754435..62758816,4	MCF-7	breast:
2	chr2:62704342..62706452-chr2:62754293..62757210,2	K562	blood:
3	chr2:62738591..62740888-chr2:62749729..62751861,2	K562	blood:
4	chr2:62750475..62752947-chr2:62754435..62758816,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186889	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6545950	chr2:62751619-62751620	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557594348	chr2:62751627-62751628	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183239421	chr2:62751632-62751633	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537085982	chr2:62751643-62751644	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531207042	chr2:62751656-62751657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188257580	chr2:62751673-62751674	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140770989	chr2:62751718-62751719	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142623737	chr2:62751721-62751722	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559564336	chr2:62751782-62751783	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75267500	chr2:62751837-62751838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78270519	chr2:62751849-62751850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564280707	chr2:62751850-62751851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374392713	chr2:62751875-62751876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531119208	chr2:62751883-62751884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17025350	chr2:62751903-62751904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149741805	chr2:62751907-62751908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561753557	chr2:62751924-62751925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551204838	chr2:62751931-62751932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368354811	chr2:62751976-62751977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146678142	chr2:62751991-62751992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541774599	chr2:62751996-62751997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547795095	chr2:62752001-62752002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140234426	chr2:62752069-62752070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539682276	chr2:62752095-62752096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193171993	chr2:62752103-62752104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567229985	chr2:62752116-62752117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145195175	chr2:62752124-62752125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184692664	chr2:62752146-62752147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137941493	chr2:62752198-62752199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149050381	chr2:62752202-62752203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189969264	chr2:62752206-62752207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34763192	chr2:62752225-62752226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553021460	chr2:62752257-62752258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536384256	chr2:62752266-62752267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13035483	chr2:62752277-62752278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6734464	chr2:62752288-62752289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368904718	chr2:62752298-62752299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563145871	chr2:62752370-62752371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs58591188	chr2:62752412-62752413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543523508	chr2:62752423-62752424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148345652	chr2:62752428-62752429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567689508	chr2:62752435-62752436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112983569	chr2:62752466-62752467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529296991	chr2:62752477-62752478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547752977	chr2:62752485-62752486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141597180	chr2:62752518-62752519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191415551	chr2:62752553-62752554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551744352	chr2:62752559-62752560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570274645	chr2:62752560-62752561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531093408	chr2:62752618-62752619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62749000-62753000	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:62749200-62752800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:62749200-62760400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:62751000-62752800	Enhancers	HepG2	liver
5	chr2:62751200-62752000	Enhancers	Pancreas	Pancrea
6	chr2:62751200-62752600	Enhancers	Ovary	ovary
7	chr2:62751400-62752000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:62751400-62752200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:62751400-62752200	Enhancers	Stomach Mucosa	stomach
10	chr2:62751400-62752200	Enhancers	HUVEC	blood vessel
11	chr2:62751600-62751800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:62751600-62751800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:62751600-62751800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:62751600-62752000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:62751600-62752000	Enhancers	Adipose Nuclei	Adipose
16	chr2:62751600-62752000	Enhancers	K562	blood
17	chr2:62751800-62752800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:62751800-62752800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:62751800-62753000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:62752000-62752400	Weak transcription	Pancreas	Pancrea
21	chr2:62752000-62753200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:62752000-62753200	Weak transcription	K562	blood
23	chr2:62752200-62752600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:62752200-62752600	Weak transcription	Stomach Mucosa	stomach
25	chr2:62752200-62754800	Weak transcription	HUVEC	blood vessel
26	chr2:62752400-62752600	Enhancers	Pancreas	Pancrea
27	chr2:62752600-62753600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:62752600-62753800	Weak transcription	Ovary	ovary
29	chr2:62752600-62753800	Weak transcription	Pancreas	Pancrea
30	chr2:62752600-62755400	Enhancers	Stomach Mucosa	stomach
31	chr2:62752800-62753200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:62752800-62753200	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:62752800-62753600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:62752800-62753600	Enhancers	Liver	Liver
35	chr2:62752800-62753600	Enhancers	Fetal Intestine Large	intestine
36	chr2:62752800-62753600	Flanking Active TSS	HepG2	liver
37	chr2:62752800-62754000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:62752800-62754000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:62752800-62754000	Enhancers	Fetal Intestine Small	intestine
40	chr2:62752800-62754200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:62752800-62754600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:62752800-62754800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:62752800-62755400	Enhancers	A549	lung
44	chr2:62752800-62755600	Enhancers	Fetal Lung	lung
45	chr2:62753000-62753400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:62753000-62753400	Enhancers	Colon Smooth Muscle	Colon
47	chr2:62753000-62754000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:62753000-62754000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:62753000-62754000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:62753000-62755400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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