Variant report

Variant	nsv818046
Chromosome Location	chr2:73900329-73914019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73907073..73907951-chr2:74066396..74067279,2	MCF-7	breast:
2	chr2:73888338..73891192-chr2:73900081..73901857,2	K562	blood:
3	chr2:73907051..73907568-chr2:74006793..74007607,2	MCF-7	breast:
4	chr2:73850004..73850829-chr2:73907369..73907993,2	K562	blood:
5	chr2:73846810..73847325-chr2:73907451..73907990,3	K562	blood:
6	chr2:73906056..73907836-chr2:74356105..74358909,2	MCF-7	breast:
7	chr2:73846839..73847625-chr2:73907303..73907990,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALMS1-3	chr2:73912088-73912694	NR_003683
2	lnc-ALMS1-3	chr2:73900940-73901123	NR_003683
3	lnc-ALMS1-3	chr2:73901969-73902032	NR_003683

No data

Variant related genes	Relation type
ENSG00000144048	chromatin interactions

Extended variants
information (count: 662 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2421587	chr2:73900329-73900330	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542447352	chr2:73900385-73900386	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563613005	chr2:73900391-73900392	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531054570	chr2:73900411-73900412	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552725824	chr2:73900443-73900444	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570822981	chr2:73900450-73900451	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528503521	chr2:73900458-73900459	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547328648	chr2:73900469-73900470	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369575590	chr2:73900515-73900516	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566013175	chr2:73900519-73900520	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536049093	chr2:73900664-73900665	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189370863	chr2:73900708-73900709	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569392894	chr2:73900712-73900713	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536723237	chr2:73900714-73900715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9789636	chr2:73900761-73900762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182108654	chr2:73900762-73900763	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541066115	chr2:73900833-73900834	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7579068	chr2:73900844-73900845	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs10206899	chr2:73900900-73900901	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
20	rs35051622	chr2:73900919-73900920	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566803482	chr2:73900920-73900921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397873806	chr2:73900936-73900937	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542036308	chr2:73900945-73900946	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs563843220	chr2:73900979-73900980	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs575924517	chr2:73900980-73900981	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs17851174	chr2:73900982-73900983	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs372041610	chr2:73900998-73900999	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs62149842	chr2:73901005-73901006	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs546278391	chr2:73901023-73901024	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs143380586	chr2:73901058-73901059	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs528493371	chr2:73901065-73901066	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs186594551	chr2:73901070-73901071	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs531692708	chr2:73901078-73901079	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs145771453	chr2:73901081-73901082	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs369038589	chr2:73901100-73901101	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs548212111	chr2:73901105-73901106	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs189924480	chr2:73901106-73901107	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs148206311	chr2:73901123-73901124	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs375289405	chr2:73901127-73901128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369835605	chr2:73901128-73901129	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570251409	chr2:73901165-73901166	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181113061	chr2:73901182-73901183	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113276520	chr2:73901225-73901226	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112395332	chr2:73901228-73901229	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574371400	chr2:73901244-73901245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536111641	chr2:73901295-73901296	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34179315	chr2:73901311-73901312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557695601	chr2:73901333-73901334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551644242	chr2:73901456-73901457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150807501	chr2:73901490-73901491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73896200-73905200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:73897200-73904600	Weak transcription	Gastric	stomach
3	chr2:73898600-73903600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:73898800-73901200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:73899200-73901400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:73899200-73901600	Strong transcription	Ovary	ovary
7	chr2:73899200-73902200	Weak transcription	Fetal Brain Male	brain
8	chr2:73899400-73902000	Weak transcription	Aorta	Aorta
9	chr2:73899400-73902800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:73899600-73901200	Strong transcription	Fetal Brain Female	brain
11	chr2:73899600-73901400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:73899600-73902000	Weak transcription	Fetal Lung	lung
13	chr2:73899800-73900600	Strong transcription	Liver	Liver
14	chr2:73899800-73901400	Strong transcription	Brain Angular Gyrus	brain
15	chr2:73899800-73902200	Strong transcription	Brain Anterior Caudate	brain
16	chr2:73900000-73900600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:73900200-73900600	Strong transcription	Pancreas	Pancrea
18	chr2:73900600-73912800	Weak transcription	Liver	Liver
19	chr2:73900600-73913000	Weak transcription	Pancreas	Pancrea
20	chr2:73900600-73954800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:73901200-73903400	Weak transcription	Fetal Brain Female	brain
22	chr2:73901400-73905200	Weak transcription	Brain Angular Gyrus	brain
23	chr2:73901400-73913000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:73901600-73911400	Weak transcription	Ovary	ovary
25	chr2:73901800-73902400	Enhancers	GM12878-XiMat	blood
26	chr2:73902200-73931400	Weak transcription	Brain Anterior Caudate	brain
27	chr2:73905200-73905600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:73906200-73907000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:73906800-73909600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:73907000-73907400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:73907000-73907400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:73907200-73907400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:73907200-73907400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:73907200-73907400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:73911400-73911600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:73911400-73911800	Enhancers	Ovary	ovary
37	chr2:73911800-73912800	Weak transcription	Ovary	ovary
38	chr2:73911800-73913000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:73912600-73913000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:73912800-73913200	Enhancers	HepG2	liver
41	chr2:73912800-73913600	Enhancers	Ovary	ovary
42	chr2:73912800-73913600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:73912800-73914200	Enhancers	Liver	Liver
44	chr2:73912800-73914200	Enhancers	Fetal Intestine Large	intestine
45	chr2:73912800-73914200	Enhancers	Fetal Intestine Small	intestine
46	chr2:73912800-73914600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:73913000-73913200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:73913000-73913400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:73913000-73913400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr2:73913000-73913400	Active TSS	Duodenum Mucosa	Duodenum

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