Variant report

Variant	esv3404390
Chromosome Location	chr1:158675828-158680126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:158659297..158661841-chr1:158675200..158677714,2	K562	blood:
2	chr1:158669887..158672800-chr1:158674715..158677591,2	K562	blood:
3	chr1:158676105..158677828-chr1:158684515..158686089,2	K562	blood:
4	chr1:158674913..158677154-chr1:158686436..158687990,2	K562	blood:

Variant related genes	Relation type
ENSG00000196171	chromatin interactions
ENSG00000203757	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184691325	chr1:158675853-158675854	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs190274624	chr1:158675879-158675880	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs113496561	chr1:158675887-158675888	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140816339	chr1:158675915-158675916	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562592919	chr1:158675943-158675944	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs181925283	chr1:158676001-158676002	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564439766	chr1:158676015-158676016	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs116549454	chr1:158676101-158676102	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73030019	chr1:158676111-158676112	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545414104	chr1:158676130-158676131	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568366356	chr1:158676131-158676132	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144583627	chr1:158676157-158676158	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547929680	chr1:158676226-158676227	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2564857	chr1:158676277-158676278	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539620646	chr1:158676279-158676280	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185770450	chr1:158676286-158676287	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs189030138	chr1:158676290-158676291	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs569923805	chr1:158676297-158676298	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs541548674	chr1:158676319-158676320	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs72700546	chr1:158676335-158676336	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs61269449	chr1:158676358-158676359	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs138608519	chr1:158676475-158676476	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs540688694	chr1:158676501-158676502	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs180964111	chr1:158676513-158676514	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs527256165	chr1:158676517-158676518	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577366204	chr1:158676532-158676533	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185370450	chr1:158676581-158676582	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs564536640	chr1:158676586-158676587	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs376047602	chr1:158676721-158676722	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs6658647	chr1:158676722-158676723	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532991318	chr1:158676750-158676751	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs114539683	chr1:158676771-158676772	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562080538	chr1:158676781-158676782	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190279310	chr1:158676795-158676796	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547838114	chr1:158676820-158676821	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181240837	chr1:158676869-158676870	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs533505774	chr1:158676885-158676886	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569747688	chr1:158676891-158676892	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs551560797	chr1:158676893-158676894	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs76707948	chr1:158676967-158676968	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537322481	chr1:158676968-158676969	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs186560972	chr1:158677035-158677036	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs529430223	chr1:158677074-158677075	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs703134	chr1:158677087-158677088	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs149266498	chr1:158677131-158677132	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577281252	chr1:158677143-158677144	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191976285	chr1:158677161-158677162	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558302909	chr1:158677237-158677238	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375430484	chr1:158677238-158677239	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576578442	chr1:158677249-158677250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	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	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158676800-158677200	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links