Variant report

Variant	esv3419158
Chromosome Location	chr14:68815222-68815567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68815262..68818162-chr14:68930944..68932946,2	MCF-7	breast:
2	chr14:68815378..68819225-chr14:68819272..68820880,3	MCF-7	breast:
3	chr14:68806501..68808073-chr14:68812909..68815753,2	MCF-7	breast:
4	chr14:68813990..68815788-chr14:69260981..69262578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555829076	chr14:68815239-68815240	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1028577	chr14:68815261-68815262	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs8017050	chr14:68815281-68815282	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78550314	chr14:68815316-68815317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545341541	chr14:68815322-68815323	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182993986	chr14:68815335-68815336	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575431785	chr14:68815342-68815343	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542850437	chr14:68815370-68815371	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs8017655	chr14:68815377-68815378	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142824110	chr14:68815383-68815384	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs151059104	chr14:68815386-68815387	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373931819	chr14:68815391-68815392	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187670956	chr14:68815408-68815409	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs8018590	chr14:68815412-68815413	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535233064	chr14:68815426-68815427	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553119188	chr14:68815497-68815498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs8017831	chr14:68815505-68815506	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550679552	chr14:68815508-68815509	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112281979	chr14:68815509-68815510	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34607161	chr14:68815511-68815512	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376196302	chr14:68815513-68815514	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187737761	chr14:68815518-68815519	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192334379	chr14:68815541-68815542	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68808600-68819200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:68809000-68816400	Weak transcription	Fetal Intestine Large	intestine
3	chr14:68811000-68816400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:68811000-68829800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:68811800-68816400	Weak transcription	Fetal Brain Male	brain
6	chr14:68812400-68818600	Enhancers	Fetal Stomach	stomach
7	chr14:68812800-68816000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:68813400-68816400	Weak transcription	Fetal Thymus	thymus
9	chr14:68813600-68825600	Weak transcription	Primary B cells from cord blood	blood
10	chr14:68813800-68815400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:68813800-68815600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:68813800-68816400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:68814000-68816400	Weak transcription	Fetal Kidney	kidney
14	chr14:68814200-68815400	Weak transcription	HepG2	liver
15	chr14:68814200-68816400	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:68814200-68816400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:68814200-68820400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:68814400-68815800	Weak transcription	Fetal Intestine Small	intestine
19	chr14:68814400-68816200	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:68814600-68815800	Weak transcription	Fetal Lung	lung
21	chr14:68814800-68816200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:68814800-68817200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:68814800-68818200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:68815400-68817200	Enhancers	Rectal Smooth Muscle	rectum
25	chr14:68815400-68818000	Enhancers	HepG2	liver

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