Variant report

Variant	esv1000535
Chromosome Location	chr4:26944042-26955394
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	chr4:26857143..26859433-chr4:26950614..26952186,2	K562	blood:
3	chr4:26941693..26944316-chr4:26946702..26948605,2	K562	blood:
4	chr4:26935465..26937974-chr4:26941266..26944135,2	K562	blood:
5	chr4:26947300..26949972-chr4:26965034..26967382,2	K562	blood:
6	chr4:26942817..26944848-chr4:27002109..27004876,2	K562	blood:
7	chr4:26935465..26938431-chr4:26942635..26945108,2	K562	blood:

Variant related genes	Relation type
ENSG00000109689	chromatin interactions

Extended variants
information (count: 415 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:415 , 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	rs374596150	chr4:26944053-26944054	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142559806	chr4:26944055-26944056	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34477683	chr4:26944102-26944103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541398027	chr4:26944104-26944105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35098832	chr4:26944112-26944113	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564525994	chr4:26944117-26944118	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532280617	chr4:26944121-26944122	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188851483	chr4:26944170-26944171	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs150318588	chr4:26944190-26944191	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs193047316	chr4:26944217-26944218	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77824893	chr4:26944253-26944254	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567774669	chr4:26944275-26944276	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530820954	chr4:26944307-26944308	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs6844153	chr4:26944314-26944315	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
15	rs553463331	chr4:26944340-26944341	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6448486	chr4:26944375-26944376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539729526	chr4:26944392-26944393	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556858778	chr4:26944437-26944438	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138001774	chr4:26944453-26944454	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376280076	chr4:26944497-26944498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556008312	chr4:26944502-26944503	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184464518	chr4:26944522-26944523	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541565240	chr4:26944536-26944537	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs74522957	chr4:26944615-26944616	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370119727	chr4:26944633-26944634	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs79669299	chr4:26944667-26944668	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533401806	chr4:26944691-26944692	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533276538	chr4:26944746-26944747	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562755157	chr4:26944772-26944773	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77166414	chr4:26944782-26944783	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531510119	chr4:26944802-26944803	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139530287	chr4:26944805-26944806	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547946723	chr4:26944907-26944908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368509404	chr4:26944939-26944940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188467598	chr4:26944967-26944968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181359037	chr4:26944969-26944970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552080149	chr4:26944973-26944974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547503905	chr4:26944988-26944989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115769512	chr4:26944998-26944999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539469626	chr4:26945000-26945001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549516763	chr4:26945008-26945009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570325894	chr4:26945046-26945047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536174240	chr4:26945062-26945063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555973458	chr4:26945096-26945097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572709662	chr4:26945097-26945098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535730431	chr4:26945117-26945118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556037761	chr4:26945123-26945124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569612159	chr4:26945124-26945125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183596474	chr4:26945141-26945142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7658174	chr4:26945149-26945150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:153 , 50 per page) page: 1 2 3 4

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	chr4:26936000-26944600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr4:26938000-26945000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:26938600-26969000	Weak transcription	Gastric	stomach
10	chr4:26938800-26945000	Weak transcription	Psoas Muscle	Psoas
11	chr4:26938800-26965600	Weak transcription	NHLF	lung
12	chr4:26939000-26954000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:26939200-26948000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:26939200-26949200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:26939200-26969000	Weak transcription	Pancreas	Pancrea
16	chr4:26940200-26944600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr4:26940200-26945200	Enhancers	Ovary	ovary
18	chr4:26940400-26945600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:26940400-26947800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:26940600-26944600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:26940800-26944200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:26941400-26944200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr4:26941400-26945400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr4:26942000-26961000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:26942400-26945200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:26942600-26950400	Weak transcription	Left Ventricle	heart
27	chr4:26942800-26947000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:26942800-26948000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:26943000-26948000	Weak transcription	Primary B cells from cord blood	blood
30	chr4:26943200-26955000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:26943800-26944200	Enhancers	Fetal Stomach	stomach
32	chr4:26943800-26944400	Enhancers	Brain Anterior Caudate	brain
33	chr4:26943800-26944400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:26943800-26944400	Enhancers	Brain Substantia Nigra	brain
35	chr4:26943800-26944600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:26943800-26945200	Enhancers	Brain Angular Gyrus	brain
37	chr4:26943800-26945200	Enhancers	Fetal Lung	lung
38	chr4:26943800-26945400	Enhancers	Brain Cingulate Gyrus	brain
39	chr4:26943800-26945400	Enhancers	Brain Hippocampus Middle	brain
40	chr4:26944000-26950600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:26944000-26952000	Weak transcription	Primary T cells from cord blood	blood
42	chr4:26944200-26949800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:26944200-26952000	Weak transcription	Fetal Stomach	stomach
44	chr4:26944200-26952800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:26944400-26945000	Weak transcription	Brain Substantia Nigra	brain
46	chr4:26944400-26945200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:26944400-26965600	Weak transcription	Brain Anterior Caudate	brain
48	chr4:26944600-26944800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:26944600-26945000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:26944600-26945200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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