Variant report

Variant	nsv528309
Chromosome Location	chr5:5434937-5452839
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:5435223..5438170-chr5:5438538..5441518,2	K562	blood:
2	chr5:5437487..5442301-chr5:5443164..5446627,5	K562	blood:
3	chr5:5443497..5445095-chr5:5445391..5448281,2	K562	blood:
4	chr5:5443497..5445095-chr5:5445391..5448281,2	K562	blood:
5	chr5:5443380..5446232-chr5:5469265..5471391,2	K562	blood:
6	chr5:5423024..5424573-chr5:5438416..5440844,2	K562	blood:
7	chr5:5438961..5442301-chr5:5442876..5448006,5	K562	blood:
8	chr5:5432770..5434615-chr5:5437929..5440317,2	K562	blood:
9	chr5:5421451..5422973-chr5:5435483..5438467,2	K562	blood:
10	chr5:5423692..5425545-chr5:5442007..5444418,2	MCF-7	breast:
11	chr5:5437487..5442301-chr5:5443164..5446627,5	K562	blood:
12	chr5:5447256..5448838-chr5:5461165..5463148,2	K562	blood:
13	chr5:5450771..5453306-chr5:5456043..5458532,3	K562	blood:
14	chr5:5451830..5454110-chr5:5465082..5467730,2	MCF-7	breast:
15	chr5:5438961..5442301-chr5:5442876..5448006,5	K562	blood:
16	chr5:5428860..5432733-chr5:5433085..5436947,4	MCF-7	breast:
17	chr5:5435223..5438170-chr5:5438538..5441518,2	K562	blood:
18	chr5:5430679..5433262-chr5:5446134..5448156,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164151	chromatin interactions

Extended variants
information (count: 693 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1473230	chr5:5434937-5434938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181520422	chr5:5434950-5434951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563094376	chr5:5434961-5434962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532249797	chr5:5435020-5435021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76932970	chr5:5435032-5435033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186161650	chr5:5435118-5435119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115669926	chr5:5435199-5435200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528278490	chr5:5435223-5435224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548544867	chr5:5435225-5435226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568361252	chr5:5435286-5435287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537296790	chr5:5435309-5435310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191921103	chr5:5435318-5435319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570725234	chr5:5435334-5435335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116745834	chr5:5435365-5435366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78555933	chr5:5435372-5435373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573137506	chr5:5435377-5435378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146680110	chr5:5435387-5435388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555491656	chr5:5435440-5435441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373333454	chr5:5435442-5435443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576573379	chr5:5435499-5435500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs184167462	chr5:5435501-5435502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552336488	chr5:5435524-5435525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139388125	chr5:5435571-5435572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs16875575	chr5:5435591-5435592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542714612	chr5:5435629-5435630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563316865	chr5:5435643-5435644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531990202	chr5:5435665-5435666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2964161	chr5:5435689-5435690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538625265	chr5:5435733-5435734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1541799	chr5:5435738-5435739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs112178882	chr5:5435742-5435743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144984075	chr5:5435748-5435749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568220759	chr5:5435771-5435772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200319769	chr5:5435772-5435773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111677148	chr5:5435773-5435774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550575875	chr5:5435774-5435775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570854970	chr5:5435775-5435776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539437372	chr5:5435776-5435777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs202179075	chr5:5435781-5435782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1541800	chr5:5435782-5435783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200129202	chr5:5435783-5435784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192077367	chr5:5435786-5435787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371635237	chr5:5435787-5435788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs5027081	chr5:5435791-5435792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375401988	chr5:5435797-5435798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535514446	chr5:5435805-5435806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs3056322	chr5:5435822-5435823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs33918369	chr5:5435823-5435824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555553644	chr5:5435846-5435847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575405066	chr5:5435863-5435864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5424400-5436800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:5424400-5437200	Weak transcription	Fetal Thymus	thymus
3	chr5:5424400-5437400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:5424400-5437600	Weak transcription	Placenta	Placenta
5	chr5:5424800-5436600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:5424800-5437600	Weak transcription	Fetal Kidney	kidney
7	chr5:5425000-5436600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:5425000-5436600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:5425000-5437200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:5425000-5437200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:5425000-5437600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:5425000-5437800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:5425000-5443600	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:5425200-5436800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:5425200-5439000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:5425200-5443200	Weak transcription	Fetal Brain Male	brain
17	chr5:5425200-5443600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:5425200-5443600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:5425200-5443600	Weak transcription	Pancreas	Pancrea
20	chr5:5425200-5443800	Weak transcription	Esophagus	oesophagus
21	chr5:5425400-5436600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:5425400-5441400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:5425400-5443600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:5425400-5443800	Weak transcription	Colonic Mucosa	Colon
25	chr5:5425600-5437200	Weak transcription	Fetal Lung	lung
26	chr5:5425600-5440800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:5425600-5443400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:5425600-5443400	Weak transcription	Brain Germinal Matrix	brain
29	chr5:5425600-5443600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:5425600-5443600	Weak transcription	Thymus	Thymus
31	chr5:5425800-5443200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:5426000-5443200	Weak transcription	Brain Anterior Caudate	brain
33	chr5:5426200-5436600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:5426200-5437200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:5427400-5436600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:5427400-5436600	Weak transcription	Dnd41	blood
37	chr5:5428000-5444800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:5428400-5443600	Weak transcription	Right Ventricle	heart
39	chr5:5428600-5437200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:5428600-5437400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:5429200-5437600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:5429400-5436600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr5:5429600-5436600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr5:5429600-5443400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:5430000-5437800	Weak transcription	Fetal Stomach	stomach
46	chr5:5430200-5436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:5430200-5436600	Weak transcription	Fetal Intestine Small	intestine
48	chr5:5430200-5437600	Weak transcription	A549	lung
49	chr5:5430200-5478800	Weak transcription	Stomach Mucosa	stomach
50	chr5:5430400-5436600	Weak transcription	Fetal Intestine Large	intestine

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