Variant report

Variant	nsv329767
Chromosome Location	chr5:107161697-107165178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107164405..107167365-chr5:107167530..107169380,2	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368728039	chr5:107161708-107161709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529039297	chr5:107161726-107161727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375482759	chr5:107161729-107161730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185195900	chr5:107161772-107161773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188191464	chr5:107161780-107161781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562313584	chr5:107161826-107161827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181525809	chr5:107161830-107161831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186307672	chr5:107161885-107161886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77599664	chr5:107161898-107161899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528200658	chr5:107161905-107161906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549808622	chr5:107161948-107161949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569803575	chr5:107161959-107161960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200096762	chr5:107161989-107161990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369937032	chr5:107161990-107161991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386690886	chr5:107162055-107162056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183238403	chr5:107162056-107162057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565888069	chr5:107162059-107162060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116198707	chr5:107162086-107162087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186290821	chr5:107162101-107162102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372250637	chr5:107162111-107162112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190752641	chr5:107162114-107162115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140580057	chr5:107162170-107162171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150462492	chr5:107162189-107162190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372112275	chr5:107162296-107162297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573735722	chr5:107162341-107162342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542731779	chr5:107162454-107162455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562109950	chr5:107162476-107162477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572583406	chr5:107162512-107162513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541290530	chr5:107162575-107162576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183167461	chr5:107162581-107162582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186777155	chr5:107162582-107162583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543970680	chr5:107162611-107162612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533483718	chr5:107162663-107162664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549724331	chr5:107162666-107162667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563344368	chr5:107162675-107162676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192281195	chr5:107162680-107162681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6596755	chr5:107162685-107162686	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564138938	chr5:107162691-107162692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376737113	chr5:107162735-107162736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540473086	chr5:107162739-107162740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201572844	chr5:107162787-107162788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199892498	chr5:107162788-107162789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200848059	chr5:107162789-107162790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368702512	chr5:107162797-107162798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372916797	chr5:107162801-107162802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202009651	chr5:107162804-107162805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7705753	chr5:107162808-107162809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201946883	chr5:107162823-107162824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371353772	chr5:107162834-107162835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7722844	chr5:107162838-107162839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107144400-107167600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:107153600-107162000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:107156200-107161800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:107157200-107166600	Weak transcription	NHDF-Ad	bronchial
5	chr5:107160600-107162400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:107160600-107162400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:107160600-107162600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:107160800-107162200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:107160800-107162400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:107160800-107162600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:107161000-107162200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:107161000-107162600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:107161000-107162600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:107161200-107162000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:107161200-107162000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:107161200-107162200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:107161600-107162600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:107161600-107167000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:107161800-107162200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:107162000-107162200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr5:107162000-107162800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:107162000-107163200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:107162000-107167400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:107162200-107166400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:107162200-107167200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:107162400-107163400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:107162600-107166800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:107162600-107167200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:107162600-107167600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:107162800-107166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:107163200-107163600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:107163400-107163600	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links