Variant report

Variant	nsv1023125
Chromosome Location	chr5:152688178-152730408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:152719231..152721862-chr5:152725575..152727113,2	K562	blood:
2	chr5:152719231..152721862-chr5:152725575..152727113,2	K562	blood:
3	chr5:152723819..152726556-chr5:152729942..152732962,3	K562	blood:
4	chr5:152723819..152726556-chr5:152729942..152732962,3	K562	blood:

Extended variants
information (count: 711 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:711 , 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	rs308271	chr5:152688178-152688179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546471857	chr5:152688183-152688184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147038429	chr5:152688270-152688271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148074060	chr5:152688274-152688275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140933282	chr5:152688284-152688285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76058062	chr5:152688377-152688378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181879909	chr5:152688390-152688391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539337708	chr5:152688429-152688430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs217771	chr5:152688433-152688434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570657066	chr5:152688454-152688455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569540059	chr5:152688457-152688458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537009447	chr5:152688464-152688465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58361474	chr5:152688559-152688560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34905315	chr5:152688579-152688580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573370647	chr5:152688587-152688588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76279808	chr5:152688592-152688593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553929353	chr5:152688627-152688628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150229259	chr5:152688631-152688632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138786803	chr5:152688643-152688644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564548026	chr5:152688693-152688694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576370884	chr5:152688706-152688707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543753860	chr5:152688712-152688713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186526557	chr5:152688742-152688743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35222268	chr5:152688754-152688755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78811355	chr5:152688786-152688787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547648281	chr5:152688788-152688789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559583209	chr5:152688863-152688864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs308272	chr5:152688885-152688886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs553746698	chr5:152688901-152688902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142171142	chr5:152688946-152688947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368730192	chr5:152688980-152688981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530442510	chr5:152689072-152689073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192387287	chr5:152689078-152689079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567055392	chr5:152689109-152689110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180743406	chr5:152689118-152689119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554580758	chr5:152689164-152689165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573194478	chr5:152689165-152689166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553993760	chr5:152689192-152689193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145069906	chr5:152689215-152689216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146353635	chr5:152689321-152689322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540949536	chr5:152689330-152689331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539984936	chr5:152689429-152689430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186128768	chr5:152689433-152689434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138486040	chr5:152689535-152689536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569782295	chr5:152689545-152689546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143015531	chr5:152689636-152689637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555783591	chr5:152689642-152689643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577392925	chr5:152689660-152689661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574215617	chr5:152689664-152689665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191005075	chr5:152689680-152689681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152687200-152694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:152688400-152688800	Enhancers	Fetal Intestine Large	intestine
3	chr5:152698400-152698600	Enhancers	Fetal Brain Male	brain
4	chr5:152699400-152699600	Enhancers	Fetal Brain Male	brain
5	chr5:152702600-152702800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:152702600-152703200	Enhancers	HMEC	breast
7	chr5:152704400-152705200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:152704600-152704800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:152704600-152704800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:152704600-152705000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:152704800-152705200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:152704800-152705200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr5:152704800-152705200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:152704800-152705400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:152704800-152705400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:152705000-152705400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr5:152719600-152720400	Enhancers	HMEC	breast
18	chr5:152721200-152729000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:152721600-152722400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:152721800-152722400	Enhancers	Aorta	Aorta
21	chr5:152722400-152723600	Weak transcription	Aorta	Aorta
22	chr5:152722400-152727600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:152723600-152724200	Enhancers	Aorta	Aorta
24	chr5:152724000-152724200	Bivalent/Poised TSS	Liver	Liver
25	chr5:152726400-152729200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:152727000-152729400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:152727200-152727800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr5:152727600-152728000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:152727600-152728000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr5:152727600-152728000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:152727800-152728200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr5:152727800-152728600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr5:152728000-152729000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:152728600-152729600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:152728800-152729000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr5:152729000-152729200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr5:152729000-152730200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr5:152729000-152730200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:152729000-152730200	Enhancers	Brain Germinal Matrix	brain
40	chr5:152729000-152730600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr5:152729200-152729400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:152729200-152729400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr5:152729200-152729600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:152729200-152729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:152729200-152729800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:152729200-152729800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr5:152729200-152730600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr5:152729400-152729800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr5:152729400-152729800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr5:152729400-152730000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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