Variant report

Variant	nsv1011849
Chromosome Location	chr1:216668381-216701163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:216665490..216668651-chr1:216669908..216672869,3	MCF-7	breast:
2	chr1:216677639..216679139-chrX:77588063..77590863,2	MCF-7	breast:
3	chr1:216665490..216668651-chr1:216669908..216672869,3	MCF-7	breast:

Extended variants
information (count: 1200 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1200 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181643592	chr1:216671002-216671003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574866519	chr1:216671003-216671004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543823958	chr1:216671021-216671022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376638179	chr1:216671022-216671023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529795501	chr1:216671031-216671032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186832616	chr1:216671057-216671058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560438335	chr1:216671068-216671069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557004036	chr1:216671143-216671144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532754276	chr1:216671199-216671200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369046399	chr1:216671202-216671203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569585620	chr1:216671218-216671219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531721607	chr1:216671274-216671275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548319445	chr1:216671294-216671295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576960138	chr1:216671298-216671299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74422698	chr1:216671337-216671338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72735132	chr1:216671338-216671339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559350655	chr1:216671355-216671356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534074102	chr1:216671378-216671379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144881193	chr1:216671398-216671399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191319992	chr1:216671419-216671420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538469831	chr1:216671439-216671440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558400088	chr1:216671499-216671500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575190149	chr1:216671510-216671511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183121608	chr1:216671529-216671530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561136559	chr1:216671535-216671536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574381556	chr1:216671550-216671551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528796187	chr1:216671569-216671570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542511655	chr1:216671572-216671573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149025143	chr1:216671584-216671585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186027113	chr1:216671618-216671619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577477171	chr1:216671623-216671624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531115478	chr1:216671640-216671641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546454017	chr1:216671643-216671644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143826470	chr1:216671650-216671651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146623294	chr1:216671653-216671654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190008859	chr1:216671659-216671660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546818372	chr1:216671668-216671669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570923995	chr1:216671674-216671675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183359313	chr1:216671713-216671714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533197267	chr1:216671727-216671728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141350382	chr1:216671764-216671765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546600852	chr1:216671789-216671790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547548084	chr1:216671797-216671798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113263366	chr1:216671820-216671821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538434780	chr1:216671825-216671826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551984138	chr1:216671938-216671939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568798878	chr1:216671974-216671975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113254815	chr1:216671988-216671989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4360581	chr1:216671992-216671993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141457784	chr1:216671993-216671994	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	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
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216671000-216673200	Enhancers	Liver	Liver
2	chr1:216671800-216672200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:216672000-216672200	Enhancers	Gastric	stomach
4	chr1:216672200-216675800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:216672200-216699600	Weak transcription	Gastric	stomach
6	chr1:216672400-216672800	Enhancers	Stomach Mucosa	stomach
7	chr1:216672600-216674400	Enhancers	HepG2	liver
8	chr1:216672800-216674400	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:216672800-216675800	Weak transcription	Stomach Mucosa	stomach
10	chr1:216673000-216673200	Enhancers	Pancreas	Pancrea
11	chr1:216673000-216674000	Enhancers	Hela-S3	cervix
12	chr1:216673200-216673600	Flanking Active TSS	Liver	Liver
13	chr1:216673200-216704600	Weak transcription	Pancreas	Pancrea
14	chr1:216673400-216674200	Enhancers	Fetal Intestine Large	intestine
15	chr1:216673400-216674200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:216673400-216674600	Enhancers	Fetal Intestine Small	intestine
17	chr1:216673600-216674000	Enhancers	Liver	Liver
18	chr1:216673800-216674400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:216673800-216674600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:216674000-216674200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:216674000-216674200	Flanking Active TSS	Liver	Liver
22	chr1:216674000-216674400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:216674000-216674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:216674000-216675000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:216674200-216674600	Enhancers	Liver	Liver
26	chr1:216674200-216675000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:216674200-216681800	Weak transcription	Fetal Intestine Large	intestine
28	chr1:216674400-216674600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:216674400-216675800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:216674400-216675800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:216674600-216675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:216674600-216702000	Weak transcription	Fetal Intestine Small	intestine
33	chr1:216674800-216675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:216674800-216676000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:216675000-216675400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:216675000-216676200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:216675400-216676400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:216675400-216676400	Enhancers	Fetal Brain Male	brain
39	chr1:216675600-216676800	Enhancers	Fetal Heart	heart
40	chr1:216675800-216676000	Enhancers	Fetal Brain Female	brain
41	chr1:216675800-216676000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:216675800-216676200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:216675800-216676200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:216675800-216676200	Enhancers	Left Ventricle	heart
45	chr1:216675800-216676200	Enhancers	Right Atrium	heart
46	chr1:216675800-216676400	Enhancers	Stomach Mucosa	stomach
47	chr1:216675800-216676600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:216675800-216676600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:216675800-216676600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:216675800-216676600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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