Variant report

Variant	esv3338076
Chromosome Location	chr14:104668699-104673297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104665772..104667960-chr14:104672753..104674404,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIF26A-1	chr14:104672215-104672264	XLOC_010947
2	lnc-KIF26A-1	chr14:104672529-104672929	XLOC_010947

Extended variants
information (count: 222 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:222 , 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	rs558226455	chr14:104668727-104668728	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs557801500	chr14:104668793-104668794	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs142500154	chr14:104668818-104668819	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537590309	chr14:104668819-104668820	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12879965	chr14:104668826-104668827	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs151338707	chr14:104668828-104668829	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115792202	chr14:104668849-104668850	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561498295	chr14:104668850-104668851	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs71419805	chr14:104668883-104668884	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529074050	chr14:104668884-104668885	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565178285	chr14:104668921-104668922	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530915740	chr14:104668950-104668951	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112366309	chr14:104668989-104668990	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561344209	chr14:104669005-104669006	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529935202	chr14:104669031-104669032	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561410888	chr14:104669042-104669043	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546442339	chr14:104669057-104669058	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375130914	chr14:104669063-104669064	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566768044	chr14:104669089-104669090	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141851076	chr14:104669130-104669131	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552438112	chr14:104669154-104669155	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568547315	chr14:104669158-104669159	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537428307	chr14:104669186-104669187	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554267697	chr14:104669209-104669210	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs567784655	chr14:104669243-104669244	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs550425683	chr14:104669277-104669278	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs553248216	chr14:104669295-104669296	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs79256784	chr14:104669304-104669305	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs115086349	chr14:104669377-104669378	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs116702271	chr14:104669399-104669400	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs147091313	chr14:104669412-104669413	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs114436596	chr14:104669415-104669416	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs561382777	chr14:104669451-104669452	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs369878586	chr14:104669472-104669473	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs540425739	chr14:104669478-104669479	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs373212770	chr14:104669513-104669514	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs540661515	chr14:104669569-104669570	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs116562630	chr14:104669578-104669579	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs147708117	chr14:104669606-104669607	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs186001909	chr14:104669616-104669617	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs191714043	chr14:104669710-104669711	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs76692823	chr14:104669712-104669713	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs115892733	chr14:104669735-104669736	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs567821483	chr14:104669745-104669746	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs533699586	chr14:104669746-104669747	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs34505020	chr14:104669807-104669808	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566985503	chr14:104669833-104669834	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs539198640	chr14:104669842-104669843	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs559312515	chr14:104669869-104669870	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs575974067	chr14:104669892-104669893	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104656200-104669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:104663200-104672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:104663400-104668800	Enhancers	Brain Germinal Matrix	brain
4	chr14:104664200-104669600	Enhancers	Fetal Brain Male	brain
5	chr14:104665400-104669600	Enhancers	Fetal Brain Female	brain
6	chr14:104665800-104669400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:104667600-104673000	Weak transcription	Spleen	Spleen
8	chr14:104667800-104669000	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr14:104667800-104669800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr14:104668000-104668800	Bivalent Enhancer	Brain Hippocampus Middle	brain
11	chr14:104668000-104669000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:104668000-104669000	Enhancers	Pancreas	Pancrea
13	chr14:104668200-104669000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:104668200-104669000	Bivalent Enhancer	Brain Substantia Nigra	brain
15	chr14:104668200-104669400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr14:104668400-104668800	Enhancers	Brain Angular Gyrus	brain
17	chr14:104668400-104668800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
18	chr14:104668400-104668800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:104668400-104668800	Enhancers	Lung	lung
20	chr14:104668400-104669000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:104668400-104669000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr14:104668400-104669000	Enhancers	Gastric	stomach
23	chr14:104668400-104669000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr14:104668400-104669200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr14:104668400-104669200	Enhancers	Fetal Lung	lung
26	chr14:104668400-104669200	Bivalent Enhancer	Placenta	Placenta
27	chr14:104668400-104670000	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr14:104668600-104668800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr14:104668800-104669000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
30	chr14:104668800-104669000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr14:104669000-104669200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:104669000-104669200	Enhancers	Brain Germinal Matrix	brain
33	chr14:104669000-104672600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:104669000-104672600	Weak transcription	Gastric	stomach
35	chr14:104669000-104672600	Weak transcription	Pancreas	Pancrea
36	chr14:104669000-104672600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:104669200-104669400	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr14:104669200-104669800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:104669200-104672400	Weak transcription	Fetal Lung	lung
40	chr14:104669400-104669600	Enhancers	Brain Germinal Matrix	brain
41	chr14:104669400-104669600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr14:104669600-104672200	Weak transcription	Brain Germinal Matrix	brain
43	chr14:104669600-104672400	Weak transcription	Fetal Brain Male	brain
44	chr14:104669600-104672800	Weak transcription	Fetal Brain Female	brain
45	chr14:104669800-104671600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:104671600-104672400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:104672000-104673200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr14:104672000-104673200	Enhancers	Fetal Muscle Leg	muscle
49	chr14:104672000-104674000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:104672200-104672400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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