Variant report

Variant	nsv945287
Chromosome Location	chr1:215627807-215645387
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:215624948..215626572-chr1:215631438..215633502,2	MCF-7	breast:
2	chr1:215628691..215630584-chr1:215630925..215633155,2	MCF-7	breast:
3	chr1:215550395..215553289-chr1:215632429..215635331,2	MCF-7	breast:
4	chr1:215628691..215630584-chr1:215630925..215633155,2	MCF-7	breast:
5	chr1:215641789..215644876-chr1:215645316..215648235,3	K562	blood:
6	chr1:215621412..215623923-chr1:215626096..215629010,2	MCF-7	breast:
7	chr1:215622337..215625097-chr1:215626697..215628486,2	K562	blood:
8	chr1:215641789..215644876-chr1:215645316..215648235,3	K562	blood:

No data

Extended variants
information (count: 463 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111975968	chr1:215630434-215630435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139829840	chr1:215630436-215630437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115850106	chr1:215630469-215630470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552493201	chr1:215630478-215630479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35452586	chr1:215630535-215630536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569061313	chr1:215630538-215630539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374291866	chr1:215630566-215630567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190942790	chr1:215630584-215630585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550369556	chr1:215630591-215630592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73094162	chr1:215630624-215630625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529725571	chr1:215630630-215630631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143139769	chr1:215630636-215630637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539285427	chr1:215630653-215630654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552997705	chr1:215630663-215630664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527584625	chr1:215630666-215630667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566512505	chr1:215630691-215630692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182456822	chr1:215630703-215630704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558896080	chr1:215630704-215630705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575320321	chr1:215630718-215630719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35094491	chr1:215630728-215630729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139123270	chr1:215630731-215630732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114349480	chr1:215630754-215630755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554504511	chr1:215630772-215630773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570348342	chr1:215630891-215630892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74668525	chr1:215630892-215630893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560106949	chr1:215630914-215630915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552100365	chr1:215630965-215630966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576837201	chr1:215630972-215630973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570407170	chr1:215630974-215630975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546059552	chr1:215630998-215630999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562856401	chr1:215631056-215631057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531945517	chr1:215631090-215631091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs202156195	chr1:215631104-215631105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146641899	chr1:215631159-215631160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562189654	chr1:215631196-215631197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17617526	chr1:215631205-215631206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149208803	chr1:215631228-215631229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566426301	chr1:215631247-215631248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78250807	chr1:215631303-215631304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77579193	chr1:215631307-215631308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1813406	chr1:215631356-215631357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537781518	chr1:215631362-215631363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555072805	chr1:215631374-215631375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115787978	chr1:215631377-215631378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56799360	chr1:215631404-215631405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs386639292	chr1:215631499-215631500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1319603	chr1:215631500-215631501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187916726	chr1:215631518-215631519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112405499	chr1:215631541-215631542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190723841	chr1:215631616-215631617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215630400-215630600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:215630600-215633000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:215631000-215632000	Enhancers	NH-A	brain
4	chr1:215631200-215632400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:215631400-215632000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:215631600-215632200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:215631600-215633000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:215631600-215633000	Enhancers	HMEC	breast
9	chr1:215632000-215632200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:215632000-215632400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:215632000-215633000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:215632400-215633000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:215632800-215633000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:215632800-215633200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:215632800-215633800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:215633000-215633200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:215633200-215639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:215639800-215640200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:215639800-215640200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:215639800-215640200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:215639800-215640200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:215640600-215642600	Weak transcription	HSMM	muscle
23	chr1:215642600-215643200	Enhancers	HSMM	muscle
24	chr1:215643200-215647000	Weak transcription	HSMM	muscle
25	chr1:215644800-215645000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:215645000-215646200	Weak transcription	Placenta Amnion	Placenta Amnion

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