Variant report

Variant	esv2505295
Chromosome Location	chr14:45497797-45499370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530532185	chr14:45497824-45497825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556927047	chr14:45497914-45497915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17115763	chr14:45497933-45497934	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560648841	chr14:45497971-45497972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539731425	chr14:45498011-45498012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7143763	chr14:45498022-45498023	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546254214	chr14:45498043-45498044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544577010	chr14:45498050-45498051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571537728	chr14:45498126-45498127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376594932	chr14:45498167-45498168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550759846	chr14:45498174-45498175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569024608	chr14:45498192-45498193	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191203231	chr14:45498198-45498199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555938772	chr14:45498356-45498357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574166694	chr14:45498362-45498363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72672912	chr14:45498426-45498427	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553064693	chr14:45498459-45498460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578210388	chr14:45498484-45498485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545338236	chr14:45498485-45498486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368666407	chr14:45498491-45498492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80156152	chr14:45498500-45498501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553199672	chr14:45498514-45498515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142357839	chr14:45498531-45498532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151240367	chr14:45498582-45498583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560675215	chr14:45498608-45498609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78835891	chr14:45498616-45498617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111801639	chr14:45498624-45498625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546588188	chr14:45498643-45498644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564685369	chr14:45498660-45498661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532438111	chr14:45498750-45498751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550647561	chr14:45498780-45498781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569164326	chr14:45498802-45498803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139255147	chr14:45498808-45498809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542311329	chr14:45498875-45498876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182530997	chr14:45498885-45498886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12882502	chr14:45498916-45498917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567784235	chr14:45498917-45498918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555822488	chr14:45498921-45498922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12882646	chr14:45498929-45498930	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534776075	chr14:45498977-45498978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377503921	chr14:45498996-45498997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187787474	chr14:45499059-45499060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190705436	chr14:45499063-45499064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539023971	chr14:45499093-45499094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182956130	chr14:45499111-45499112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575508870	chr14:45499138-45499139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575506305	chr14:45499149-45499150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28681969	chr14:45499209-45499210	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs554707235	chr14:45499214-45499215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572900707	chr14:45499226-45499227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
4	chr14:45450000-45501800	Weak transcription	Lung	lung
5	chr14:45458200-45501400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:45458200-45507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:45458800-45503400	Weak transcription	HUVEC	blood vessel
8	chr14:45459400-45507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:45461200-45501800	Weak transcription	HSMMtube	muscle
10	chr14:45461800-45501400	Weak transcription	NHEK	skin
11	chr14:45462400-45506200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:45463600-45507000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:45464400-45507400	Weak transcription	Spleen	Spleen
14	chr14:45464600-45507400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:45464600-45507600	Weak transcription	Hela-S3	cervix
16	chr14:45465600-45507800	Weak transcription	Fetal Heart	heart
17	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:45465800-45552600	Weak transcription	HMEC	breast
19	chr14:45466200-45508600	Weak transcription	HepG2	liver
20	chr14:45466400-45503000	Weak transcription	Esophagus	oesophagus
21	chr14:45466400-45508000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:45466600-45501000	Weak transcription	Aorta	Aorta
23	chr14:45468600-45507400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:45469400-45506200	Weak transcription	Psoas Muscle	Psoas
25	chr14:45470400-45507400	Weak transcription	Right Ventricle	heart
26	chr14:45470600-45501400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:45470600-45507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:45476400-45507600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:45476600-45498200	Weak transcription	NH-A	brain
30	chr14:45477400-45502600	Weak transcription	A549	lung
31	chr14:45477800-45498600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:45479000-45506000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:45480400-45507600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:45480800-45501800	Weak transcription	Colonic Mucosa	Colon
35	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
36	chr14:45483000-45501400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:45485200-45498600	Strong transcription	Liver	Liver
38	chr14:45485200-45507400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:45486600-45498600	Strong transcription	Fetal Intestine Large	intestine
40	chr14:45486800-45501600	Weak transcription	Fetal Lung	lung
41	chr14:45487000-45507400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:45487800-45501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:45487800-45501800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:45487800-45503400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:45487800-45507400	Weak transcription	Gastric	stomach
46	chr14:45488000-45506200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:45488400-45501200	Weak transcription	Osteobl	bone
48	chr14:45488600-45501600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr14:45488600-45501800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr14:45488600-45501800	Weak transcription	Brain Angular Gyrus	brain

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