Variant report

Variant	nsv1028217
Chromosome Location	chr5:103036540-103087077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:103079665..103081704-chr5:103159850..103162204,2	K562	blood:
2	chr5:103082740..103085193-chr5:103090914..103092473,2	MCF-7	breast:
3	chr5:103078614..103081128-chr5:103127289..103130175,2	MCF-7	breast:
4	chr5:103076756..103079448-chr5:103079911..103082424,2	K562	blood:
5	chr5:103014005..103016419-chr5:103036291..103038603,2	MCF-7	breast:
6	chr5:103076756..103079448-chr5:103079911..103082424,2	K562	blood:

Extended variants
information (count: 713 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201210742	chr5:103037804-103037805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575755152	chr5:103037848-103037849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs544596557	chr5:103037866-103037867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561602504	chr5:103037885-103037886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs35761368	chr5:103037891-103037892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548552208	chr5:103037908-103037909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559059954	chr5:103037909-103037910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182111140	chr5:103037917-103037918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs546940145	chr5:103039015-103039016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17155731	chr5:103039018-103039019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532588557	chr5:103039026-103039027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552536669	chr5:103039048-103039049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193049657	chr5:103039074-103039075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112526683	chr5:103039089-103039090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538337805	chr5:103039091-103039092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114201324	chr5:103039138-103039139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73203515	chr5:103039162-103039163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534097349	chr5:103039167-103039168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569774894	chr5:103039205-103039206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6891615	chr5:103039239-103039240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139595581	chr5:103039422-103039423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17155734	chr5:103039490-103039491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558528340	chr5:103039503-103039504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571777984	chr5:103039570-103039571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538996771	chr5:103039588-103039589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184032277	chr5:103039607-103039608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17393226	chr5:103039608-103039609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs529945609	chr5:103039622-103039623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186846452	chr5:103039648-103039649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34060747	chr5:103039650-103039651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149717273	chr5:103039675-103039676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532431648	chr5:103039683-103039684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576625358	chr5:103039787-103039788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191292128	chr5:103039805-103039806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183610309	chr5:103039817-103039818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189479816	chr5:103039832-103039833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145546050	chr5:103039848-103039849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565914828	chr5:103039860-103039861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116835003	chr5:103039890-103039891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568192995	chr5:103039911-103039912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534157480	chr5:103039938-103039939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547575593	chr5:103039963-103039964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28499477	chr5:103040023-103040024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562207170	chr5:103040046-103040047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532879517	chr5:103040070-103040071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555291914	chr5:103040104-103040105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575258127	chr5:103040108-103040109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540134802	chr5:103040129-103040130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113615134	chr5:103040156-103040157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182028437	chr5:103040176-103040177	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103037800-103038000	ZNF genes & repeats	Pancreas	Pancrea
2	chr5:103039000-103039800	Enhancers	NHEK	skin
3	chr5:103039000-103040400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:103039200-103040200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:103039800-103040200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr5:103042600-103043000	Enhancers	Fetal Stomach	stomach
7	chr5:103048600-103049000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:103048600-103049400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:103049200-103050200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:103049600-103050400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:103050400-103053200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:103053200-103055200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:103054800-103057400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:103056200-103057200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr5:103056600-103057200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:103059400-103060600	Enhancers	Fetal Lung	lung
17	chr5:103060000-103060600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:103073600-103074000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:103076600-103077000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:103077000-103078200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:103077800-103078600	Enhancers	Colon Smooth Muscle	Colon
22	chr5:103078200-103078400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:103078200-103078800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr5:103078400-103083000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:103078600-103079400	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:103078800-103079800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:103079000-103079800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:103079400-103079600	Enhancers	Colon Smooth Muscle	Colon
29	chr5:103079400-103079800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:103079400-103080000	Enhancers	Fetal Brain Female	brain
31	chr5:103079400-103080600	Enhancers	NH-A	brain
32	chr5:103079600-103079800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:103079600-103080000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
34	chr5:103079600-103080200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:103079600-103080200	Enhancers	Osteobl	bone
36	chr5:103079800-103080000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:103079800-103080000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr5:103079800-103080200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:103079800-103082000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:103080000-103080200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:103080000-103080200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:103080000-103080600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:103080200-103081200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:103080200-103081800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:103080600-103080800	Enhancers	Osteobl	bone
46	chr5:103080600-103081800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:103081200-103082600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:103081600-103081800	Bivalent Enhancer	Osteobl	bone
49	chr5:103081800-103082000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links