Variant report

Variant	nsv10468
Chromosome Location	chr4:26453879-26462957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26455423..26458903-chr4:26462260..26464658,3	K562	blood:
2	chr4:26460549..26461471-chr4:26721284..26722071,3	K562	blood:
3	chr4:26460527..26461421-chr4:26721272..26722269,7	MCF-7	breast:
4	chr4:26455423..26458903-chr4:26462260..26464658,3	K562	blood:

Extended variants
information (count: 360 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80229397	chr4:26453912-26453913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572301909	chr4:26453964-26453965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13130981	chr4:26453966-26453967	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs528144608	chr4:26453995-26453996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563746304	chr4:26454004-26454005	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs199596067	chr4:26454021-26454022	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547806981	chr4:26454049-26454050	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs543134161	chr4:26454055-26454056	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563359653	chr4:26454076-26454077	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529500487	chr4:26454099-26454100	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs183719391	chr4:26454113-26454114	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs371093159	chr4:26454130-26454131	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186893353	chr4:26454190-26454191	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs9291484	chr4:26454226-26454227	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192401532	chr4:26454267-26454268	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs185545531	chr4:26454284-26454285	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs76058100	chr4:26454285-26454286	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537415093	chr4:26454404-26454405	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190422431	chr4:26454503-26454504	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567725541	chr4:26454543-26454544	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs535336502	chr4:26454578-26454579	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs9654107	chr4:26454609-26454610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6856923	chr4:26454669-26454670	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181610949	chr4:26454689-26454690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117922982	chr4:26454702-26454703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550997877	chr4:26454758-26454759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76814986	chr4:26454796-26454797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567767628	chr4:26454814-26454815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577231763	chr4:26454832-26454833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185357230	chr4:26454854-26454855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563268253	chr4:26454913-26454914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554687699	chr4:26454931-26454932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116186986	chr4:26455044-26455045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188508799	chr4:26455063-26455064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559906404	chr4:26455081-26455082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528650316	chr4:26455153-26455154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552125903	chr4:26455167-26455168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565544333	chr4:26455195-26455196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376290714	chr4:26455206-26455207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139283034	chr4:26455208-26455209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181311850	chr4:26455215-26455216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184998501	chr4:26455216-26455217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546728500	chr4:26455233-26455234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77896292	chr4:26455242-26455243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565557899	chr4:26455254-26455255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534474289	chr4:26455255-26455256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397879761	chr4:26455265-26455266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34485976	chr4:26455266-26455267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150009784	chr4:26455272-26455273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147237392	chr4:26455279-26455280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26423400-26459200	Weak transcription	Thymus	Thymus
2	chr4:26436400-26456400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:26440800-26454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:26443600-26454200	Weak transcription	Fetal Lung	lung
5	chr4:26445000-26461000	Weak transcription	HSMM	muscle
6	chr4:26446600-26456000	Weak transcription	HSMMtube	muscle
7	chr4:26453200-26459600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:26453400-26455000	Enhancers	Colon Smooth Muscle	Colon
12	chr4:26453400-26455200	Enhancers	Fetal Thymus	thymus
13	chr4:26453600-26454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:26453600-26455000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:26453600-26455000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:26453600-26455000	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:26453600-26455000	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:26453600-26455200	Enhancers	Ovary	ovary
19	chr4:26453600-26455800	Enhancers	Pancreas	Pancrea
20	chr4:26453800-26454200	Enhancers	Fetal Stomach	stomach
21	chr4:26453800-26454600	Enhancers	Fetal Intestine Small	intestine
22	chr4:26453800-26454800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:26453800-26454800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:26453800-26455200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:26453800-26455200	Enhancers	HepG2	liver
26	chr4:26453800-26456800	Weak transcription	Osteobl	bone
27	chr4:26454000-26454400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:26454000-26454400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:26454000-26454600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:26454000-26454600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:26454000-26454600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr4:26454000-26454800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:26454000-26454800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:26454000-26455000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:26454000-26455000	Enhancers	Stomach Mucosa	stomach
36	chr4:26454200-26454400	Enhancers	Fetal Lung	lung
37	chr4:26454200-26454800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:26454200-26454800	Enhancers	Fetal Intestine Large	intestine
39	chr4:26454200-26455200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:26454200-26455200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:26454200-26458000	Weak transcription	Fetal Stomach	stomach
42	chr4:26454400-26459000	Weak transcription	Fetal Lung	lung
43	chr4:26454600-26454800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr4:26454600-26455200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:26454800-26455200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:26454800-26456000	Enhancers	Gastric	stomach
47	chr4:26454800-26460800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:26455200-26455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:26455200-26456600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:26455200-26458600	Weak transcription	Primary T cells from cord blood	blood

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