Variant report

Variant	nsv966490
Chromosome Location	chr4:26940200-26946323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26942817..26944848-chr4:27002109..27004876,2	K562	blood:
2	chr4:26935465..26938431-chr4:26942635..26945108,2	K562	blood:
3	chr4:26859274..26863088-chr4:26939649..26941972,3	K562	blood:
4	chr4:26941693..26944316-chr4:26946702..26948605,2	K562	blood:
5	chr4:26935465..26937974-chr4:26941266..26944135,2	K562	blood:

Variant related genes	Relation type
ENSG00000109689	chromatin interactions
ENSG00000240005	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60890366	chr4:26940237-26940238	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551120048	chr4:26940283-26940284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190071695	chr4:26940349-26940350	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181723504	chr4:26940382-26940383	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs553086615	chr4:26940419-26940420	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572897699	chr4:26940441-26940442	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538599422	chr4:26940445-26940446	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs184794096	chr4:26940509-26940510	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374576121	chr4:26940535-26940536	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs75871648	chr4:26940545-26940546	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs188617718	chr4:26940583-26940584	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs180789013	chr4:26940594-26940595	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557096691	chr4:26940665-26940666	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373516113	chr4:26940676-26940677	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533171354	chr4:26940683-26940684	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10470823	chr4:26940687-26940688	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs185190740	chr4:26940709-26940710	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs73116675	chr4:26940717-26940718	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142730359	chr4:26940720-26940721	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs111395594	chr4:26940742-26940743	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs190884286	chr4:26940766-26940767	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544950550	chr4:26940768-26940769	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs114375193	chr4:26940783-26940784	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs531211000	chr4:26940813-26940814	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529216167	chr4:26940836-26940837	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs144503989	chr4:26940849-26940850	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182566767	chr4:26940859-26940860	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530273158	chr4:26940860-26940861	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548273707	chr4:26940920-26940921	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546792228	chr4:26940921-26940922	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs76980626	chr4:26940984-26940985	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187217526	chr4:26940985-26940986	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558880288	chr4:26940993-26940994	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191642208	chr4:26941004-26941005	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs537336693	chr4:26941099-26941100	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557013188	chr4:26941137-26941138	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183497688	chr4:26941169-26941170	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542798499	chr4:26941175-26941176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553214257	chr4:26941193-26941194	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572941724	chr4:26941290-26941291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs544797677	chr4:26941298-26941299	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187103618	chr4:26941385-26941386	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs530460815	chr4:26941394-26941395	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs570943568	chr4:26941425-26941426	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs544880984	chr4:26941490-26941491	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs561198308	chr4:26941552-26941553	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs147973713	chr4:26941566-26941567	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs546753671	chr4:26941611-26941612	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs190352862	chr4:26941654-26941655	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532616650	chr4:26941747-26941748	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:190 , 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	chr4:26914800-26942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:26922800-26941400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:26923000-26940200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:26923000-26942400	Weak transcription	Fetal Brain Male	brain
6	chr4:26923000-26942400	Weak transcription	Left Ventricle	heart
7	chr4:26923200-26941400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:26923200-26942400	Weak transcription	Brain Angular Gyrus	brain
9	chr4:26923200-26965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:26923200-26977200	Weak transcription	Thymus	Thymus
11	chr4:26923400-26954400	Weak transcription	HSMM	muscle
12	chr4:26923400-26960600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:26923800-26943800	Weak transcription	Fetal Lung	lung
14	chr4:26924400-26940200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:26924400-26940600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:26924400-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:26933000-26942400	Weak transcription	Right Atrium	heart
18	chr4:26934800-26940800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:26936000-26940400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr4:26936000-26940400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:26936000-26944600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr4:26937400-26941400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:26937800-26942200	Enhancers	K562	blood
24	chr4:26938000-26945000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:26938400-26940400	Weak transcription	Primary T cells from cord blood	blood
26	chr4:26938400-26941600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:26938600-26969000	Weak transcription	Gastric	stomach
28	chr4:26938800-26941600	Weak transcription	Lung	lung
29	chr4:26938800-26942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:26938800-26945000	Weak transcription	Psoas Muscle	Psoas
31	chr4:26938800-26965600	Weak transcription	NHLF	lung
32	chr4:26939000-26940200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:26939000-26941600	Weak transcription	Spleen	Spleen
34	chr4:26939000-26954000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:26939200-26940200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:26939200-26940200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:26939200-26940200	Weak transcription	Ovary	ovary
38	chr4:26939200-26940600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr4:26939200-26941400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:26939200-26948000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:26939200-26949200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:26939200-26969000	Weak transcription	Pancreas	Pancrea
43	chr4:26939400-26940400	Enhancers	Small Intestine	intestine
44	chr4:26939600-26940400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:26939600-26940600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr4:26939600-26940800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:26939600-26942000	Weak transcription	Primary B cells from cord blood	blood
48	chr4:26939600-26942000	Weak transcription	Stomach Mucosa	stomach
49	chr4:26939600-26943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:26939800-26940400	Enhancers	Fetal Heart	heart

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