Variant report

Variant	nsv522944
Chromosome Location	chr2:56603985-56676997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56618904..56620543-chr2:56628115..56630656,2	K562	blood:
2	chr2:56618904..56620543-chr2:56628115..56630656,2	K562	blood:
3	chr2:56591468..56594426-chr2:56642626..56645610,2	MCF-7	breast:

Extended variants
information (count: 873 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13432055	chr2:56603985-56603986	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184232675	chr2:56604036-56604037	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369752938	chr2:56604049-56604050	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148378165	chr2:56604054-56604055	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188994293	chr2:56604113-56604114	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181745959	chr2:56604121-56604122	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576139384	chr2:56604158-56604159	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532464424	chr2:56604180-56604181	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545067309	chr2:56604181-56604182	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551560130	chr2:56604199-56604200	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527665926	chr2:56604217-56604218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs377573318	chr2:56604218-56604219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112890269	chr2:56604221-56604222	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs190822047	chr2:56604254-56604255	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114649312	chr2:56604330-56604331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550403920	chr2:56604385-56604386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs180825949	chr2:56604401-56604402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs111683816	chr2:56604521-56604522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs377505829	chr2:56604531-56604532	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532264875	chr2:56604539-56604540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552280843	chr2:56604600-56604601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs565712442	chr2:56604645-56604646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534603875	chr2:56604656-56604657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557861699	chr2:56604745-56604746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76830168	chr2:56604755-56604756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536909466	chr2:56604772-56604773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556755842	chr2:56604799-56604800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576602512	chr2:56604807-56604808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186224064	chr2:56604821-56604822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113717322	chr2:56604952-56604953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190164016	chr2:56605018-56605019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571306327	chr2:56605020-56605021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79734547	chr2:56605022-56605023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374922260	chr2:56605023-56605024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10207429	chr2:56605031-56605032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77312148	chr2:56605037-56605038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58497352	chr2:56605038-56605039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561083700	chr2:56605070-56605071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530436356	chr2:56605073-56605074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553640969	chr2:56605086-56605087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544100766	chr2:56605111-56605112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566957906	chr2:56605156-56605157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563898846	chr2:56605177-56605178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532737367	chr2:56605208-56605209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115110136	chr2:56605259-56605260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559397569	chr2:56605281-56605282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181351699	chr2:56605306-56605307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376133171	chr2:56605316-56605317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548179771	chr2:56605329-56605330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373477264	chr2:56605337-56605338	Weak transcription	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
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	18451855	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56576000-56613200	Weak transcription	Left Ventricle	heart
2	chr2:56599600-56610400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:56600000-56605800	Weak transcription	HMEC	breast
4	chr2:56603800-56604200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:56603800-56604200	Genic enhancers	HSMM	muscle
6	chr2:56604000-56604600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:56604000-56604600	Enhancers	HSMMtube	muscle
8	chr2:56604000-56604800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:56604000-56604800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:56604200-56604400	Flanking Active TSS	HSMM	muscle
11	chr2:56604200-56604600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr2:56604200-56604600	Enhancers	Adipose Nuclei	Adipose
13	chr2:56604400-56604600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:56604400-56604600	Enhancers	HSMM	muscle
15	chr2:56604400-56604800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:56604600-56606200	Weak transcription	HSMM	muscle
17	chr2:56604600-56608000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:56604600-56608000	Weak transcription	Adipose Nuclei	Adipose
19	chr2:56604600-56608800	Weak transcription	Fetal Intestine Large	intestine
20	chr2:56604800-56608000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:56604800-56608000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:56605800-56606000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:56605800-56606400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:56605800-56606600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:56605800-56606600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:56605800-56606600	Enhancers	HMEC	breast
27	chr2:56605800-56606800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:56606200-56606600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:56606200-56606600	Enhancers	HSMM	muscle
30	chr2:56606400-56610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:56606600-56606800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:56606600-56607800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:56606600-56607800	Weak transcription	HMEC	breast
34	chr2:56606600-56608200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:56606600-56611200	Weak transcription	HSMM	muscle
36	chr2:56608000-56608200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:56608000-56608200	Enhancers	HMEC	breast
38	chr2:56608000-56608400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:56608000-56608400	Enhancers	Adipose Nuclei	Adipose
40	chr2:56608000-56608600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:56608000-56608800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:56608200-56608600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:56608400-56611400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:56608400-56612200	Weak transcription	Adipose Nuclei	Adipose
45	chr2:56608600-56611200	Enhancers	Fetal Intestine Small	intestine
46	chr2:56608800-56611200	Enhancers	Fetal Intestine Large	intestine
47	chr2:56609200-56610400	Enhancers	Liver	Liver
48	chr2:56609400-56610600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr2:56610000-56610800	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:56610400-56611200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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