Variant report

Variant	esv3418230
Chromosome Location	chr2:67674648-67676646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:67676437..67677938-chr2:67689822..67692554,2	MCF-7	breast:
2	chr2:67674874..67677557-chr2:67684092..67685629,2	MCF-7	breast:
3	chr2:67669675..67673501-chr2:67674540..67677156,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548218188	chr2:67674739-67674740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182291513	chr2:67674766-67674767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187420613	chr2:67674802-67674803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114339815	chr2:67674881-67674882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4629142	chr2:67674924-67674925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs539110901	chr2:67674935-67674936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575877548	chr2:67674945-67674946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190587707	chr2:67674950-67674951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180979637	chr2:67675065-67675066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4627546	chr2:67675097-67675098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs376694603	chr2:67675131-67675132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185580390	chr2:67675190-67675191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572774558	chr2:67675211-67675212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541648528	chr2:67675224-67675225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569215410	chr2:67675258-67675259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558343633	chr2:67675304-67675305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75491665	chr2:67675343-67675344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34804789	chr2:67675367-67675368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578156623	chr2:67675393-67675394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1521042	chr2:67675400-67675401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190390299	chr2:67675495-67675496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537373595	chr2:67675524-67675525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182963810	chr2:67675590-67675591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187677746	chr2:67675618-67675619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561884144	chr2:67675661-67675662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527574173	chr2:67675699-67675700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577314193	chr2:67675754-67675755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192258130	chr2:67675793-67675794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570292762	chr2:67675828-67675829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532935058	chr2:67675830-67675831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549626983	chr2:67675849-67675850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183676542	chr2:67675881-67675882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75795036	chr2:67675895-67675896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78982125	chr2:67675900-67675901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7588812	chr2:67675917-67675918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555338490	chr2:67676040-67676041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375999298	chr2:67676042-67676043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566415900	chr2:67676045-67676046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542345967	chr2:67676094-67676095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535319388	chr2:67676101-67676102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143732215	chr2:67676206-67676207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138319149	chr2:67676222-67676223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142796029	chr2:67676230-67676231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34603843	chr2:67676256-67676257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189069968	chr2:67676299-67676300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574078944	chr2:67676341-67676342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115367136	chr2:67676353-67676354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369306181	chr2:67676421-67676422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559308042	chr2:67676426-67676427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527611035	chr2:67676433-67676434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67664600-67678400	Weak transcription	Aorta	Aorta
2	chr2:67672400-67675200	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:67672800-67674800	Enhancers	Stomach Mucosa	stomach
4	chr2:67672800-67674800	Enhancers	Hela-S3	cervix
5	chr2:67673000-67674800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:67673000-67675000	Enhancers	A549	lung
7	chr2:67673200-67674800	Enhancers	HMEC	breast
8	chr2:67674000-67675600	Weak transcription	Fetal Heart	heart
9	chr2:67674200-67678600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:67674400-67678800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:67674600-67675600	Weak transcription	NHEK	skin
12	chr2:67674600-67675800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:67674600-67675800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:67674600-67678400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:67674600-67678400	Weak transcription	NH-A	brain
16	chr2:67674800-67675800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:67674800-67675800	Weak transcription	HMEC	breast
18	chr2:67674800-67676000	Weak transcription	Hela-S3	cervix
19	chr2:67675000-67678400	Weak transcription	A549	lung
20	chr2:67675200-67675600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:67675200-67676000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:67675600-67676400	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:67675600-67676600	Enhancers	Fetal Heart	heart
24	chr2:67675600-67676800	Enhancers	NHEK	skin
25	chr2:67675800-67676800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:67675800-67676800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:67675800-67677000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:67675800-67677000	Enhancers	HMEC	breast
29	chr2:67676000-67676400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:67676000-67676600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:67676000-67676600	Enhancers	Hela-S3	cervix
32	chr2:67676600-67677600	Weak transcription	Hela-S3	cervix

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