Variant report

Variant	nsv873180
Chromosome Location	chr1:217073060-217112871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:217065075..217066697-chr1:217076274..217078802,2	MCF-7	breast:
2	chr1:217095512..217097116-chr1:217098734..217100728,2	MCF-7	breast:
3	chr1:217085881..217086616-chr4:21121511..21122023,2	MCF-7	breast:
4	chr1:217064761..217066366-chr1:217072668..217074460,2	MCF-7	breast:
5	chr1:217095512..217097116-chr1:217098734..217100728,2	MCF-7	breast:

Extended variants
information (count: 1708 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1708 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2576203	chr1:217073060-217073061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541600717	chr1:217073090-217073091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561309341	chr1:217073092-217073093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527568787	chr1:217073157-217073158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369338499	chr1:217073167-217073168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373053052	chr1:217073261-217073262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2576202	chr1:217073301-217073302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144131055	chr1:217073334-217073335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532911856	chr1:217073337-217073338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549624959	chr1:217073367-217073368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569753681	chr1:217073388-217073389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529541369	chr1:217073397-217073398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549596722	chr1:217073398-217073399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576472258	chr1:217073413-217073414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535019564	chr1:217073419-217073420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558385206	chr1:217073425-217073426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1436884	chr1:217073449-217073450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184897862	chr1:217073479-217073480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557060249	chr1:217073481-217073482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111562980	chr1:217073491-217073492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573791536	chr1:217073543-217073544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113229445	chr1:217073555-217073556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574648755	chr1:217073556-217073557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138927894	chr1:217073569-217073570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149404710	chr1:217073633-217073634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540989004	chr1:217073641-217073642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4846758	chr1:217073699-217073700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144764144	chr1:217073735-217073736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77610557	chr1:217073790-217073791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139646549	chr1:217073822-217073823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189782813	chr1:217073833-217073834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144288639	chr1:217073838-217073839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576808673	chr1:217073866-217073867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549058468	chr1:217073867-217073868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59429353	chr1:217073887-217073888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1436883	chr1:217073889-217073890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs397948652	chr1:217073894-217073895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528660021	chr1:217073925-217073926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564069287	chr1:217073998-217073999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146072735	chr1:217074031-217074032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537095244	chr1:217074046-217074047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370283291	chr1:217074063-217074064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7538877	chr1:217074106-217074107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536348866	chr1:217074120-217074121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569984947	chr1:217074141-217074142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140033379	chr1:217074196-217074197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572162393	chr1:217074243-217074244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541203114	chr1:217074302-217074303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557797210	chr1:217074313-217074314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577867275	chr1:217074341-217074342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217062600-217078000	Weak transcription	Pancreas	Pancrea
2	chr1:217062800-217076000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:217062800-217076200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:217062800-217087800	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:217067400-217075800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:217067800-217076000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:217068200-217076000	Weak transcription	Left Ventricle	heart
8	chr1:217071400-217073400	Enhancers	NHEK	skin
9	chr1:217072000-217073200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:217072000-217073200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:217072000-217073200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:217072000-217073200	Enhancers	HMEC	breast
13	chr1:217072200-217082800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:217072600-217074200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:217073000-217073200	Enhancers	Brain Angular Gyrus	brain
16	chr1:217073000-217074000	Enhancers	Fetal Lung	lung
17	chr1:217073200-217074200	Weak transcription	HMEC	breast
18	chr1:217073200-217074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:217073200-217074600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:217073200-217075200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:217073200-217076000	Weak transcription	Brain Angular Gyrus	brain
22	chr1:217073400-217075400	Weak transcription	NHEK	skin
23	chr1:217073600-217074600	Enhancers	Fetal Brain Male	brain
24	chr1:217074000-217074400	Weak transcription	Fetal Lung	lung
25	chr1:217074200-217074600	Enhancers	Fetal Heart	heart
26	chr1:217074200-217074600	Enhancers	Fetal Intestine Small	intestine
27	chr1:217074200-217076400	Enhancers	HMEC	breast
28	chr1:217074400-217074600	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:217074400-217074600	Enhancers	Fetal Lung	lung
30	chr1:217074400-217080000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:217074600-217075600	Weak transcription	Fetal Intestine Small	intestine
32	chr1:217074600-217076000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:217074600-217076000	Weak transcription	Fetal Heart	heart
34	chr1:217074600-217076000	Weak transcription	Fetal Lung	lung
35	chr1:217074600-217076400	Weak transcription	Fetal Brain Male	brain
36	chr1:217074600-217078800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:217075200-217078800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:217075400-217076600	Enhancers	NHEK	skin
39	chr1:217075400-217077200	Enhancers	Brain Hippocampus Middle	brain
40	chr1:217075600-217077000	Enhancers	Fetal Intestine Small	intestine
41	chr1:217075800-217077200	Enhancers	Fetal Intestine Large	intestine
42	chr1:217075800-217077400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:217075800-217077400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:217075800-217077400	Enhancers	HSMM	muscle
45	chr1:217075800-217079000	Enhancers	HepG2	liver
46	chr1:217076000-217076200	Enhancers	Gastric	stomach
47	chr1:217076000-217076400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:217076000-217076400	Enhancers	Left Ventricle	heart
49	chr1:217076000-217076600	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:217076000-217076600	Enhancers	Small Intestine	intestine

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