Variant report

Variant	esv1808465
Chromosome Location	chr4:26945149-26957489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26941693..26944316-chr4:26946702..26948605,2	K562	blood:
2	chr4:26947300..26949972-chr4:26965034..26967382,2	K562	blood:
3	chr4:26857143..26859433-chr4:26950614..26952186,2	K562	blood:

Variant related genes	Relation type
ENSG00000109689	chromatin interactions

Extended variants
information (count: 427 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7658174	chr4:26945149-26945150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149455689	chr4:26945160-26945161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563547531	chr4:26945166-26945167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80027515	chr4:26945309-26945310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373385512	chr4:26945480-26945481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143909415	chr4:26945492-26945493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6448487	chr4:26945527-26945528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs201609771	chr4:26945578-26945579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577798370	chr4:26945655-26945656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547176009	chr4:26945761-26945762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564164866	chr4:26945769-26945770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532896434	chr4:26945771-26945772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549717901	chr4:26945775-26945776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367577870	chr4:26945802-26945803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569694912	chr4:26945898-26945899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536137817	chr4:26945953-26945954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77870448	chr4:26946006-26946007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371756234	chr4:26946064-26946065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114740750	chr4:26946088-26946089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535173660	chr4:26946092-26946093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558077478	chr4:26946095-26946096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578018840	chr4:26946098-26946099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537170274	chr4:26946113-26946114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556915502	chr4:26946121-26946122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573732965	chr4:26946180-26946181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187994347	chr4:26946193-26946194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553656675	chr4:26946231-26946232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561694405	chr4:26946233-26946234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573782534	chr4:26946252-26946253	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572256628	chr4:26946255-26946256	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541182738	chr4:26946256-26946257	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564143158	chr4:26946265-26946266	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376039621	chr4:26946267-26946268	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572060634	chr4:26946269-26946270	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533020880	chr4:26946356-26946357	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543184368	chr4:26946366-26946367	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369690785	chr4:26946385-26946386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562789415	chr4:26946431-26946432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76308781	chr4:26946449-26946450	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528941247	chr4:26946454-26946455	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549001233	chr4:26946631-26946632	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566335915	chr4:26946633-26946634	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180873975	chr4:26946725-26946726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187262395	chr4:26946728-26946729	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112865024	chr4:26946765-26946766	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138531513	chr4:26946767-26946768	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564157645	chr4:26946772-26946773	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537537300	chr4:26946800-26946801	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557074820	chr4:26946869-26946870	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190523298	chr4:26946895-26946896	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26911600-26965800	Weak transcription	HMEC	breast
2	chr4:26923200-26965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:26923200-26977200	Weak transcription	Thymus	Thymus
4	chr4:26923400-26954400	Weak transcription	HSMM	muscle
5	chr4:26923400-26960600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:26924400-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:26938600-26969000	Weak transcription	Gastric	stomach
8	chr4:26938800-26965600	Weak transcription	NHLF	lung
9	chr4:26939000-26954000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:26939200-26948000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:26939200-26949200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:26939200-26969000	Weak transcription	Pancreas	Pancrea
13	chr4:26940200-26945200	Enhancers	Ovary	ovary
14	chr4:26940400-26945600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:26940400-26947800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:26941400-26945400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:26942000-26961000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:26942400-26945200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:26942600-26950400	Weak transcription	Left Ventricle	heart
20	chr4:26942800-26947000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:26942800-26948000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:26943000-26948000	Weak transcription	Primary B cells from cord blood	blood
23	chr4:26943200-26955000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:26943800-26945200	Enhancers	Brain Angular Gyrus	brain
25	chr4:26943800-26945200	Enhancers	Fetal Lung	lung
26	chr4:26943800-26945400	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:26943800-26945400	Enhancers	Brain Hippocampus Middle	brain
28	chr4:26944000-26950600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:26944000-26952000	Weak transcription	Primary T cells from cord blood	blood
30	chr4:26944200-26949800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:26944200-26952000	Weak transcription	Fetal Stomach	stomach
32	chr4:26944200-26952800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:26944400-26945200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:26944400-26965600	Weak transcription	Brain Anterior Caudate	brain
35	chr4:26944600-26945200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr4:26944600-26948000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:26944800-26945400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:26945000-26945200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:26945000-26945200	Enhancers	Psoas Muscle	Psoas
40	chr4:26945000-26945600	Enhancers	Brain Substantia Nigra	brain
41	chr4:26945000-26945800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:26945200-26945400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr4:26945200-26945400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:26945200-26949200	Weak transcription	Ovary	ovary
45	chr4:26945200-26949200	Weak transcription	Psoas Muscle	Psoas
46	chr4:26945200-26952000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:26945200-26954600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:26945200-26956800	Weak transcription	Brain Angular Gyrus	brain
49	chr4:26945400-26945600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:26945400-26954600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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