Variant report

Variant	nsv821512
Chromosome Location	chr2:96729895-96731750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96731019..96733745-chr2:98305236..98308160,2	MCF-7	breast:
2	chr2:96729388..96731079-chr2:96873291..96874910,2	K562	blood:
3	chr2:96730056..96731818-chr2:96841828..96843515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204685	chromatin interactions
ENSG00000084090	chromatin interactions
ENSG00000228486	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577917259	chr2:96729923-96729924	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2462772	chr2:96729959-96729960	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs140134535	chr2:96729981-96729982	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs62157066	chr2:96729983-96729984	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs532223567	chr2:96729993-96729994	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559724795	chr2:96729994-96729995	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563745987	chr2:96730029-96730030	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs534273586	chr2:96730030-96730031	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529541725	chr2:96730064-96730065	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549586482	chr2:96730105-96730106	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560129940	chr2:96730140-96730141	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528792043	chr2:96730153-96730154	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551742315	chr2:96730244-96730245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570438056	chr2:96730280-96730281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs12621333	chr2:96730375-96730376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs79216525	chr2:96730409-96730410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546358665	chr2:96730414-96730415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549875381	chr2:96730458-96730459	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569396873	chr2:96730475-96730476	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535304400	chr2:96730500-96730501	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs4907297	chr2:96730509-96730510	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs555137134	chr2:96730530-96730531	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs375125458	chr2:96730547-96730548	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562602963	chr2:96730629-96730630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529627764	chr2:96730656-96730657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571860943	chr2:96730725-96730726	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558748275	chr2:96730750-96730751	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs377481411	chr2:96730751-96730752	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs142133846	chr2:96730767-96730768	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs150061100	chr2:96730772-96730773	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs56250222	chr2:96730782-96730783	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373770444	chr2:96730840-96730841	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577989332	chr2:96730926-96730927	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs575556736	chr2:96730931-96730932	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs4572636	chr2:96730934-96730935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557528345	chr2:96730953-96730954	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574172363	chr2:96730988-96730989	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190435078	chr2:96731029-96731030	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs559993387	chr2:96731055-96731056	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs368450138	chr2:96731075-96731076	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs528639017	chr2:96731088-96731089	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200025670	chr2:96731089-96731090	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537055540	chr2:96731208-96731209	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545704214	chr2:96731224-96731225	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565416904	chr2:96731309-96731310	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532977885	chr2:96731395-96731396	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549502146	chr2:96731441-96731442	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368742412	chr2:96731466-96731467	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569456624	chr2:96731507-96731508	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372383133	chr2:96731523-96731524	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96726400-96730800	Weak transcription	Spleen	Spleen
2	chr2:96726400-96731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:96726600-96731000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:96727200-96730200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:96727200-96730400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:96727400-96730000	Enhancers	Brain Hippocampus Middle	brain
7	chr2:96727400-96732800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:96728200-96733800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:96728600-96730200	Enhancers	HSMM	muscle
10	chr2:96728800-96730200	Enhancers	Brain Angular Gyrus	brain
11	chr2:96729000-96730200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:96729200-96730200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:96729200-96730200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:96729200-96730200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:96729400-96730000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:96729400-96730200	Enhancers	HSMMtube	muscle
17	chr2:96729400-96734000	Weak transcription	A549	lung
18	chr2:96729600-96731000	Weak transcription	HepG2	liver
19	chr2:96729600-96731600	Weak transcription	Hela-S3	cervix
20	chr2:96729600-96733400	Weak transcription	Brain Anterior Caudate	brain
21	chr2:96729600-96733800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:96729600-96733800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:96729600-96734000	Weak transcription	HMEC	breast
24	chr2:96730000-96730200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:96730000-96733800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:96730200-96733800	Weak transcription	Brain Angular Gyrus	brain
27	chr2:96730200-96735800	Weak transcription	HSMM	muscle
28	chr2:96730200-96735800	Weak transcription	HSMMtube	muscle
29	chr2:96730200-96736000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:96730200-96737000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:96730400-96736000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:96730800-96731600	Enhancers	Spleen	Spleen
33	chr2:96731000-96731600	Enhancers	Fetal Muscle Leg	muscle
34	chr2:96731000-96732000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr2:96731000-96733000	Enhancers	HepG2	liver
36	chr2:96731200-96731600	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:96731200-96731800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:96731400-96731600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:96731600-96733000	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:96731600-96733800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:96731600-96737200	Weak transcription	Spleen	Spleen

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