Variant report

Variant	esv3387294
Chromosome Location	chr1:161385553-161388101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161367430..161368932-chr1:161384466..161386892,2	MCF-7	breast:
2	chr1:161379123..161382070-chr1:161387001..161390523,3	K562	blood:
3	chr1:161374486..161376275-chr1:161385955..161388750,2	K562	blood:
4	chr1:161385881..161387506-chr1:161389116..161391807,2	K562	blood:

Variant related genes	Relation type
ENSG00000215840	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553469990	chr1:161385569-161385570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573267321	chr1:161385572-161385573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539084788	chr1:161385588-161385589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188807154	chr1:161385597-161385598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575969524	chr1:161385604-161385605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544905776	chr1:161385646-161385647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13376294	chr1:161385651-161385652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs377121745	chr1:161385696-161385697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146503184	chr1:161385701-161385702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563886206	chr1:161385713-161385714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193227272	chr1:161385725-161385726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140887686	chr1:161385746-161385747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149710245	chr1:161385790-161385791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184415359	chr1:161385795-161385796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564546934	chr1:161385810-161385811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530680466	chr1:161385873-161385874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550870710	chr1:161385968-161385969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567335822	chr1:161385978-161385979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529942802	chr1:161385988-161385989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145577245	chr1:161386064-161386065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189397448	chr1:161386108-161386109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546757209	chr1:161386170-161386171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149159383	chr1:161386172-161386173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558958472	chr1:161386178-161386179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181367581	chr1:161386179-161386180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538135504	chr1:161386195-161386196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184175947	chr1:161386206-161386207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189243204	chr1:161386211-161386212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540867791	chr1:161386225-161386226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572725972	chr1:161386246-161386247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371792850	chr1:161386250-161386251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371717780	chr1:161386275-161386276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544716947	chr1:161386289-161386290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564509168	chr1:161386308-161386309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564900078	chr1:161386346-161386347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530552908	chr1:161386367-161386368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181634739	chr1:161386410-161386411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
38	rs186786516	chr1:161386415-161386416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544707179	chr1:161386430-161386431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558606624	chr1:161386557-161386558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201590082	chr1:161386628-161386629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531457395	chr1:161386657-161386658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566690614	chr1:161386685-161386686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532624346	chr1:161386687-161386688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551049169	chr1:161386689-161386690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71090391	chr1:161386735-161386736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371322747	chr1:161386755-161386756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376189146	chr1:161386800-161386801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71090392	chr1:161386815-161386816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192027993	chr1:161386825-161386826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161371000-161387800	Weak transcription	Spleen	Spleen
2	chr1:161378200-161395400	Weak transcription	Pancreas	Pancrea
3	chr1:161379200-161391400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:161379600-161390800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:161380600-161389400	Weak transcription	Fetal Intestine Small	intestine
6	chr1:161383400-161390600	Weak transcription	K562	blood
7	chr1:161385400-161391600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:161387800-161388000	Enhancers	Spleen	Spleen

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