Variant report

Variant	nsv981040
Chromosome Location	chr5:115205066-115211378
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:115200336..115203007-chr5:115203929..115206460,2	K562	blood:
2	chr19:49121390..49123356-chr5:115205123..115206693,2	MCF-7	breast:
3	chr5:115204352..115206713-chr5:115207529..115209767,2	K562	blood:
4	chr16:71323238..71324801-chr5:115205748..115207250,2	K562	blood:
5	chr5:115206874..115208478-chr5:115208697..115211517,2	MCF-7	breast:
6	chr5:115175801..115178780-chr5:115205651..115208608,2	K562	blood:
7	chr5:115197705..115199807-chr5:115209028..115210592,2	MCF-7	breast:
8	chr5:115177088..115179006-chr5:115205990..115207526,2	MCF-7	breast:
9	chr5:115210792..115211545-chr5:115403396..115404332,2	MCF-7	breast:
10	chr5:115204790..115207353-chr5:115207860..115210489,2	MCF-7	breast:
11	chr5:115175467..115180084-chr5:115209900..115212973,5	MCF-7	breast:
12	chr5:115206874..115208478-chr5:115208697..115211517,2	MCF-7	breast:
13	chr5:115175680..115177440-chr5:115210427..115212730,2	MCF-7	breast:
14	chr5:115204790..115207353-chr5:115207860..115210489,2	MCF-7	breast:
15	chr5:115183571..115185116-chr5:115205126..115206631,2	K562	blood:
16	chr5:115204352..115206713-chr5:115207529..115209767,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000063176	chromatin interactions
ENSG00000180917	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000145782	chromatin interactions

Extended variants
information (count: 261 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143339012	chr5:115205105-115205106	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35815941	chr5:115205108-115205109	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560910259	chr5:115205122-115205123	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573186234	chr5:115205173-115205174	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs529690650	chr5:115205189-115205190	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs7707539	chr5:115205224-115205225	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555541043	chr5:115205225-115205226	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs145576423	chr5:115205259-115205260	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs573684214	chr5:115205278-115205279	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs532492739	chr5:115205282-115205283	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs552311531	chr5:115205293-115205294	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs190603236	chr5:115205340-115205341	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs535091969	chr5:115205348-115205349	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs535419593	chr5:115205359-115205360	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs74898206	chr5:115205375-115205376	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs150052719	chr5:115205402-115205403	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs151280547	chr5:115205403-115205404	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs3072859	chr5:115205410-115205411	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs568250020	chr5:115205439-115205440	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs537040344	chr5:115205444-115205445	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs556982853	chr5:115205456-115205457	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs143293540	chr5:115205460-115205461	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs546189210	chr5:115205476-115205477	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs183312167	chr5:115205498-115205499	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs372810010	chr5:115205523-115205524	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs186506292	chr5:115205542-115205543	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs375440970	chr5:115205548-115205549	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs542437085	chr5:115205582-115205583	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs151244874	chr5:115205589-115205590	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs529853186	chr5:115205640-115205641	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs141592493	chr5:115205656-115205657	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs375366698	chr5:115205671-115205672	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs368663038	chr5:115205672-115205673	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs371698185	chr5:115205674-115205675	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs367995186	chr5:115205683-115205684	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs552212020	chr5:115205686-115205687	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs142250464	chr5:115205714-115205715	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs528260526	chr5:115205891-115205892	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs1500270	chr5:115206006-115206007	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544973129	chr5:115206039-115206040	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs537153247	chr5:115206047-115206048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs191401076	chr5:115206051-115206052	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs116519935	chr5:115206078-115206079	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs540098609	chr5:115206111-115206112	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs553367727	chr5:115206129-115206130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs147108040	chr5:115206158-115206159	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs75249068	chr5:115206262-115206263	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs556041187	chr5:115206268-115206269	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs574536205	chr5:115206282-115206283	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs36083750	chr5:115206348-115206349	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115185600-115218600	Weak transcription	Lung	lung
2	chr5:115187200-115206600	Weak transcription	Ovary	ovary
3	chr5:115187400-115206200	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:115189800-115218600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:115189800-115235800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:115190400-115206000	Weak transcription	Primary B cells from cord blood	blood
7	chr5:115191000-115223000	Weak transcription	Right Ventricle	heart
8	chr5:115192400-115207600	Weak transcription	Pancreas	Pancrea
9	chr5:115192800-115206000	Weak transcription	Left Ventricle	heart
10	chr5:115193200-115207400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:115193200-115239000	Weak transcription	Gastric	stomach
12	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:115193800-115205200	Weak transcription	Primary T cells from cord blood	blood
14	chr5:115194000-115206000	Weak transcription	Fetal Lung	lung
15	chr5:115194000-115206000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:115194000-115206200	Weak transcription	Fetal Kidney	kidney
17	chr5:115194000-115211000	Weak transcription	HepG2	liver
18	chr5:115194200-115205200	Weak transcription	HUVEC	blood vessel
19	chr5:115194200-115206000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:115194200-115206200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:115194200-115209000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:115194400-115206000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:115194400-115218000	Weak transcription	Fetal Intestine Small	intestine
24	chr5:115194400-115220800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:115195000-115206000	Weak transcription	Fetal Intestine Large	intestine
26	chr5:115195200-115206000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:115195200-115206000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:115195200-115206200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:115195400-115205400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:115195400-115205600	Weak transcription	Adipose Nuclei	Adipose
31	chr5:115195400-115209000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
33	chr5:115195600-115205800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:115195600-115206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:115195600-115208600	Weak transcription	Osteobl	bone
36	chr5:115195600-115214600	Weak transcription	HSMMtube	muscle
37	chr5:115195800-115206000	Weak transcription	NHDF-Ad	bronchial
38	chr5:115196000-115206000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:115196000-115206000	Weak transcription	Placenta	Placenta
40	chr5:115196000-115211200	Weak transcription	Psoas Muscle	Psoas
41	chr5:115196000-115233600	Weak transcription	Esophagus	oesophagus
42	chr5:115196600-115205400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:115199600-115205400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:115200000-115205400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:115200000-115206000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:115200200-115206000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:115200200-115209000	Weak transcription	K562	blood
48	chr5:115200400-115205400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:115200400-115208600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:115200400-115218200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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