Variant report

Variant	esv3367131
Chromosome Location	chr2:186835657-186837855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549251908	chr2:186835667-186835668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567495363	chr2:186835695-186835696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560919520	chr2:186835704-186835705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12477912	chr2:186835831-186835832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550831500	chr2:186835861-186835862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34982095	chr2:186835896-186835897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549787041	chr2:186835921-186835922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373687257	chr2:186835947-186835948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569053290	chr2:186835966-186835967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34912969	chr2:186836054-186836055	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs72907844	chr2:186836067-186836068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35907164	chr2:186836068-186836069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7425675	chr2:186836069-186836070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199832215	chr2:186836071-186836072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3058631	chr2:186836086-186836087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200189386	chr2:186836089-186836090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs33988622	chr2:186836094-186836095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374257257	chr2:186836114-186836115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367828526	chr2:186836165-186836166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546999055	chr2:186836171-186836172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565390728	chr2:186836177-186836178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548153581	chr2:186836184-186836185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535938993	chr2:186836215-186836216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11892320	chr2:186836296-186836297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181743079	chr2:186836304-186836305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537671808	chr2:186836338-186836339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572008117	chr2:186836365-186836366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113738731	chr2:186836408-186836409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577474181	chr2:186836415-186836416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541387684	chr2:186836483-186836484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375232919	chr2:186836504-186836505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542765107	chr2:186836513-186836514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13403290	chr2:186836516-186836517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112058042	chr2:186836517-186836518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574930545	chr2:186836518-186836519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201359227	chr2:186836523-186836524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199610231	chr2:186836524-186836525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553358384	chr2:186836532-186836533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35596407	chr2:186836536-186836537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200942455	chr2:186836581-186836582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371045958	chr2:186836582-186836583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375127396	chr2:186836584-186836585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59282719	chr2:186836585-186836586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71014696	chr2:186836588-186836589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57250620	chr2:186836589-186836590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542329971	chr2:186836608-186836609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563835351	chr2:186836609-186836610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189637719	chr2:186836610-186836611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs3058634	chr2:186836631-186836632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs543620525	chr2:186836651-186836652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186828200-186836800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:186828400-186857400	Weak transcription	Aorta	Aorta
3	chr2:186828800-186867400	Weak transcription	Ovary	ovary
4	chr2:186834000-186836000	Enhancers	Fetal Intestine Large	intestine
5	chr2:186834600-186836200	Enhancers	Fetal Intestine Small	intestine
6	chr2:186834800-186835800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:186834800-186835800	Enhancers	NHEK	skin
8	chr2:186835000-186835800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:186835000-186835800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:186835000-186835800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:186835000-186835800	Enhancers	Fetal Kidney	kidney
12	chr2:186835000-186835800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:186835000-186835800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:186835000-186835800	Enhancers	Stomach Mucosa	stomach
15	chr2:186835000-186835800	Enhancers	HepG2	liver
16	chr2:186835200-186835800	Enhancers	Hela-S3	cervix
17	chr2:186835200-186835800	Enhancers	HMEC	breast
18	chr2:186835600-186835800	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:186835600-186840600	Weak transcription	Pancreas	Pancrea
20	chr2:186835800-186836800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:186835800-186836800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:186835800-186843400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:186836200-186836600	Weak transcription	Fetal Intestine Small	intestine
24	chr2:186836600-186837200	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr2:186836800-186837000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:186836800-186837200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:186836800-186837200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr2:186836800-186837200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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