Variant report

Variant	esv3382119
Chromosome Location	chr2:63634350-63660437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63415883..63416512-chr2:63651703..63652517,3	MCF-7	breast:
2	chr2:63648880..63650710-chr2:63662533..63665016,2	K562	blood:

Extended variants
information (count: 856 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:856 , 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	rs11687234	chr2:63634407-63634408	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141753172	chr2:63634461-63634462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181719982	chr2:63634615-63634616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6756696	chr2:63634629-63634630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185602741	chr2:63634684-63634685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145309494	chr2:63634761-63634762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76819445	chr2:63634824-63634825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555995076	chr2:63634874-63634875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561501677	chr2:63634918-63634919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189968907	chr2:63634933-63634934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62177833	chr2:63634939-63634940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141708113	chr2:63634948-63634949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566304120	chr2:63635009-63635010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182270430	chr2:63635027-63635028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534284880	chr2:63635097-63635098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35431695	chr2:63635140-63635141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17552302	chr2:63635145-63635146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571230896	chr2:63635189-63635190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184890904	chr2:63635198-63635199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557920845	chr2:63635222-63635223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576189147	chr2:63635242-63635243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55990596	chr2:63635271-63635272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368172267	chr2:63635337-63635338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567838964	chr2:63635362-63635363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574013386	chr2:63635407-63635408	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538647339	chr2:63635443-63635444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139023297	chr2:63635499-63635500	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541046248	chr2:63635536-63635537	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190994473	chr2:63635548-63635549	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533458278	chr2:63635578-63635579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545480793	chr2:63635608-63635609	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563479597	chr2:63635609-63635610	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150505019	chr2:63635619-63635620	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370421084	chr2:63635627-63635628	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373783686	chr2:63635644-63635645	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567431679	chr2:63635678-63635679	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139469918	chr2:63635708-63635709	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546274821	chr2:63635713-63635714	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548683996	chr2:63635739-63635740	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571359179	chr2:63635808-63635809	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538355532	chr2:63635852-63635853	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568180772	chr2:63635858-63635859	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556591474	chr2:63635861-63635862	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569932387	chr2:63635914-63635915	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537232668	chr2:63635918-63635919	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2421889	chr2:63635932-63635933	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4471880	chr2:63635996-63635997	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574248204	chr2:63636030-63636031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541458089	chr2:63636053-63636054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553103336	chr2:63636061-63636062	Enhancers Weak transcription	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
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63597800-63649200	Weak transcription	Fetal Lung	lung
2	chr2:63605000-63642400	Weak transcription	HSMMtube	muscle
3	chr2:63615600-63637000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:63615800-63637000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:63621400-63637000	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:63622200-63645400	Weak transcription	Liver	Liver
7	chr2:63622800-63635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:63624800-63642400	Weak transcription	Left Ventricle	heart
9	chr2:63626800-63636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:63626800-63644000	Weak transcription	Gastric	stomach
11	chr2:63627000-63637600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:63627600-63636600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:63628200-63635200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:63628200-63668200	Weak transcription	Fetal Kidney	kidney
15	chr2:63628600-63651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:63629600-63644400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:63629800-63635200	Weak transcription	Fetal Stomach	stomach
18	chr2:63629800-63637400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:63630600-63635400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:63631600-63644000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:63631600-63652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:63631800-63634600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:63631800-63635000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:63631800-63635200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:63631800-63635800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:63631800-63635800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:63631800-63635800	Weak transcription	Lung	lung
28	chr2:63631800-63637400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:63631800-63637400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:63631800-63641800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:63631800-63643200	Weak transcription	Dnd41	blood
32	chr2:63631800-63643800	Weak transcription	Pancreas	Pancrea
33	chr2:63631800-63645000	Weak transcription	Brain Substantia Nigra	brain
34	chr2:63631800-63652400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:63631800-63654600	Weak transcription	Primary T cells from cord blood	blood
36	chr2:63631800-63661600	Weak transcription	Ovary	ovary
37	chr2:63631800-63665600	Weak transcription	Primary B cells from cord blood	blood
38	chr2:63631800-63675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:63631800-63677200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
41	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
42	chr2:63632000-63665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:63633000-63649200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:63633400-63634600	Strong transcription	Adipose Nuclei	Adipose
45	chr2:63634000-63634400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:63634200-63665800	Weak transcription	Fetal Heart	heart
47	chr2:63634400-63652000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:63634600-63641800	Weak transcription	Adipose Nuclei	Adipose
49	chr2:63635000-63636000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:63635200-63635600	Strong transcription	Fetal Stomach	stomach

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