Variant report

Variant	nsv963753
Chromosome Location	chr2:182825768-182827188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182817609..182820976-chr2:182822757..182826762,5	K562	blood:
2	chr2:182823391..182825919-chr2:182828896..182830450,2	K562	blood:
3	chr2:182823391..182825919-chr2:182828896..182831073,3	K562	blood:
4	chr2:182754937..182757631-chr2:182824760..182826456,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260742	chromatin interactions
ENSG00000150722	chromatin interactions
ENSG00000138434	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192300640	chr2:182825786-182825787	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs560478345	chr2:182825790-182825791	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs183977945	chr2:182825813-182825814	ZNF genes & repeats Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs552897362	chr2:182825946-182825947	ZNF genes & repeats Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs569499471	chr2:182825980-182825981	ZNF genes & repeats Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs531914807	chr2:182825981-182825982	ZNF genes & repeats Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs150243507	chr2:182826026-182826027	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs78370522	chr2:182826051-182826052	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs138969954	chr2:182826063-182826064	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs372316816	chr2:182826077-182826078	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs533614994	chr2:182826119-182826120	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs373657595	chr2:182826128-182826129	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs56174567	chr2:182826147-182826148	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs570103119	chr2:182826150-182826151	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs539090730	chr2:182826151-182826152	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs556398719	chr2:182826183-182826184	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs528276010	chr2:182826213-182826214	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs367758642	chr2:182826220-182826221	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs188965374	chr2:182826224-182826225	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs555241995	chr2:182826239-182826240	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs192694214	chr2:182826255-182826256	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs540692134	chr2:182826267-182826268	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs560610810	chr2:182826288-182826289	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs532547978	chr2:182826306-182826307	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs545906710	chr2:182826318-182826319	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs563183891	chr2:182826323-182826324	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs531879530	chr2:182826324-182826325	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs548887585	chr2:182826356-182826357	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs568491977	chr2:182826357-182826358	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs527919173	chr2:182826418-182826419	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs149001946	chr2:182826425-182826426	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs570239425	chr2:182826426-182826427	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs184386711	chr2:182826450-182826451	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs188078460	chr2:182826451-182826452	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs557749925	chr2:182826529-182826530	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535341435	chr2:182826586-182826587	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56328504	chr2:182826588-182826589	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143040120	chr2:182826596-182826597	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572262059	chr2:182826678-182826679	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73032696	chr2:182826684-182826685	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116049914	chr2:182826738-182826739	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553250308	chr2:182826749-182826750	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191769643	chr2:182826794-182826795	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184217826	chr2:182826821-182826822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562713845	chr2:182826870-182826871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576390049	chr2:182826889-182826890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542118568	chr2:182826907-182826908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562088455	chr2:182826937-182826938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188873838	chr2:182826960-182826961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547616174	chr2:182826972-182826973	Weak transcription Strong transcription	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
Autism	18522746	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
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182819200-182828200	Weak transcription	Right Atrium	heart
2	chr2:182819600-182825800	Weak transcription	Fetal Heart	heart
3	chr2:182822400-182825800	Enhancers	NHLF	lung
4	chr2:182823400-182825800	Weak transcription	Thymus	Thymus
5	chr2:182823400-182827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:182825200-182827800	Strong transcription	Fetal Thymus	thymus
7	chr2:182825400-182826000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:182825800-182826600	Weak transcription	Gastric	stomach
9	chr2:182825800-182826800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:182825800-182827800	Strong transcription	Thymus	Thymus
11	chr2:182826800-182833800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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