Variant report

Variant	nsv818064
Chromosome Location	chr2:86818868-86819409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86819094..86820925-chr2:86844374..86847111,2	MCF-7	breast:
2	chr2:86815800..86817434-chr2:86817538..86820109,2	MCF-7	breast:
3	chr2:86788344..86791163-chr2:86817304..86820517,4	MCF-7	breast:
4	chr2:86817719..86819365-chr2:86821480..86823766,2	K562	blood:

Variant related genes	Relation type
ENSG00000228363	chromatin interactions
ENSG00000115561	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12623509	chr2:86818868-86818869	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538227004	chr2:86818904-86818905	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs7568840	chr2:86818994-86818995	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs537025100	chr2:86819049-86819050	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11894098	chr2:86819096-86819097	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7585722	chr2:86819128-86819129	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs189277956	chr2:86819162-86819163	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs55748755	chr2:86819195-86819196	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148432192	chr2:86819197-86819198	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376787773	chr2:86819202-86819203	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557399025	chr2:86819212-86819213	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575565634	chr2:86819230-86819231	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs192877223	chr2:86819261-86819262	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184040743	chr2:86819305-86819306	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs561836501	chr2:86819308-86819309	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs574028789	chr2:86819324-86819325	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541322064	chr2:86819343-86819344	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559618178	chr2:86819349-86819350	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7586028	chr2:86819409-86819410	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:48)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86819000-86823400	Enhancers	Colon Smooth Muscle	Colon
2	chr2:86819200-86819800	Enhancers	Fetal Brain Female	brain
3	chr2:86819200-86820200	Enhancers	Stomach Smooth Muscle	stomach
4	chr2:86819200-86821800	Enhancers	Rectal Smooth Muscle	rectum
5	chr2:86819400-86820200	Enhancers	Fetal Brain Male	brain
6	chr2:86819400-86822600	Enhancers	Fetal Heart	heart

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