Variant report

Variant	esv9888
Chromosome Location	chr2:178740995-178742118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178736620..178738806-chr2:178741458..178743918,2	K562	blood:
2	chr2:178739623..178741157-chr2:178746550..178748805,2	K562	blood:
3	chr2:178685875..178688046-chr2:178738979..178741149,2	K562	blood:
4	chr2:178740457..178742889-chr2:178751116..178753576,2	K562	blood:

Variant related genes	Relation type
ENSG00000128655	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13031478	chr2:178741002-178741003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113227838	chr2:178741037-178741038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78159681	chr2:178741092-178741093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558343025	chr2:178741099-178741100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563534990	chr2:178741133-178741134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569041815	chr2:178741136-178741137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183945194	chr2:178741192-178741193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550504151	chr2:178741247-178741248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554744865	chr2:178741287-178741288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79079524	chr2:178741320-178741321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540117831	chr2:178741323-178741324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553763335	chr2:178741391-178741392	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76338508	chr2:178741459-178741460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs34839662	chr2:178741469-178741470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188847219	chr2:178741517-178741518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs16823484	chr2:178741538-178741539	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368699455	chr2:178741630-178741631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531824346	chr2:178741676-178741677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542108104	chr2:178741693-178741694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375763967	chr2:178741701-178741702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114047870	chr2:178741702-178741703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79815425	chr2:178741744-178741745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548076569	chr2:178741745-178741746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116649792	chr2:178741764-178741765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375746267	chr2:178741765-178741766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532104041	chr2:178741802-178741803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72948845	chr2:178741816-178741817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568906261	chr2:178741841-178741842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs386653103	chr2:178741863-178741864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34383497	chr2:178741898-178741899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs397726018	chr2:178741910-178741911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537923736	chr2:178741934-178741935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370074286	chr2:178741946-178741947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76938086	chr2:178741957-178741958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567878191	chr2:178741974-178741975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs558286976	chr2:178741984-178741985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs193034078	chr2:178742022-178742023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78438287	chr2:178742026-178742027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78406912	chr2:178742039-178742040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576837433	chr2:178742064-178742065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs78468438	chr2:178742092-178742093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183056819	chr2:178742093-178742094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178734400-178744800	Weak transcription	Psoas Muscle	Psoas
2	chr2:178736200-178743000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:178739200-178743000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:178739400-178744800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:178739600-178741600	Weak transcription	Liver	Liver
6	chr2:178739600-178744800	Weak transcription	HepG2	liver
7	chr2:178740000-178742200	Weak transcription	Fetal Intestine Large	intestine
8	chr2:178740000-178744800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:178741000-178759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:178741600-178748000	Enhancers	Liver	Liver

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