Variant report

Variant	esv1794640
Chromosome Location	chr14:65017474-65020267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65015799..65018122-chr20:55818007..55820214,2	MCF-7	breast:
2	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
3	chr14:64969437..64972776-chr14:65017251..65021474,5	MCF-7	breast:
4	chr14:65017028..65018763-chr14:65046297..65047824,2	MCF-7	breast:
5	chr14:65006961..65009286-chr14:65016299..65018796,2	K562	blood:
6	chr14:64971147..64972847-chr14:65015662..65018406,2	MCF-7	breast:
7	chr14:65005138..65007971-chr14:65016762..65019337,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB25-4	chr14:65019414-65019606	ENSG00000259076.1
2	lnc-ZBTB25-4	chr14:65019412-65019562	ENSG00000259076.1

No data

Variant related genes	Relation type
ENSG00000126804	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000126803	chromatin interactions
ENSG00000259116	chromatin interactions
ENSG00000089775	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376045049	chr14:65017494-65017495	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs569980164	chr14:65017570-65017571	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs370067091	chr14:65017593-65017594	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs373104900	chr14:65017597-65017598	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs370646023	chr14:65017601-65017602	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs142499430	chr14:65017661-65017662	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs71416331	chr14:65017672-65017673	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs372001929	chr14:65017722-65017723	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs558866274	chr14:65017752-65017753	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs201958542	chr14:65017760-65017761	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs534842445	chr14:65017764-65017765	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs10129935	chr14:65017780-65017781	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs574440274	chr14:65017856-65017857	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs563718898	chr14:65017883-65017884	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs533327442	chr14:65017886-65017887	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs112970187	chr14:65017894-65017895	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs543186397	chr14:65017909-65017910	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs187982509	chr14:65017918-65017919	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs8007506	chr14:65017961-65017962	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546109413	chr14:65018100-65018101	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs191456085	chr14:65018199-65018200	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs528395045	chr14:65018226-65018227	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552365344	chr14:65018397-65018398	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs183810620	chr14:65018414-65018415	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs561770712	chr14:65018416-65018417	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs530189990	chr14:65018442-65018443	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs547300373	chr14:65018555-65018556	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs187903340	chr14:65018558-65018559	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs113117604	chr14:65018590-65018591	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs559767328	chr14:65018592-65018593	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs76079663	chr14:65018672-65018673	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs552157230	chr14:65018696-65018697	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs367986826	chr14:65018756-65018757	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs193009145	chr14:65018765-65018766	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs535002601	chr14:65018770-65018771	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs573290087	chr14:65018855-65018856	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs184018353	chr14:65018899-65018900	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs528482161	chr14:65018952-65018953	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs537146394	chr14:65018976-65018977	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs112344792	chr14:65019063-65019064	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs113224583	chr14:65019067-65019068	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs539391379	chr14:65019075-65019076	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs553024161	chr14:65019146-65019147	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs150685259	chr14:65019171-65019172	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs112906454	chr14:65019185-65019186	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs561919063	chr14:65019186-65019187	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs145041636	chr14:65019209-65019210	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs372132858	chr14:65019216-65019217	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs111363414	chr14:65019247-65019248	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs113615957	chr14:65019255-65019256	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
Intracranial arachnoid cysts	20187927	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65016200-65017600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:65016400-65017600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:65016400-65017600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:65016400-65017600	Bivalent Enhancer	Fetal Brain Male	brain
5	chr14:65016400-65017600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr14:65016600-65017600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr14:65016600-65017600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr14:65016600-65017600	Bivalent/Poised TSS	Fetal Kidney	kidney
9	chr14:65016800-65018400	Enhancers	Brain Substantia Nigra	brain
10	chr14:65017000-65017600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr14:65017000-65017600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr14:65017000-65017600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:65017000-65017600	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr14:65017000-65017600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr14:65017000-65018000	Enhancers	Brain Angular Gyrus	brain
16	chr14:65017200-65017600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr14:65017200-65017600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr14:65017200-65017600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr14:65017200-65017600	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:65017200-65017600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr14:65017200-65017600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr14:65017200-65017600	Bivalent Enhancer	Fetal Brain Female	brain
23	chr14:65017200-65017800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr14:65017200-65018400	Enhancers	Hela-S3	cervix
25	chr14:65017200-65021200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:65017200-65021200	Weak transcription	Gastric	stomach
27	chr14:65017400-65017600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr14:65017400-65017600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:65017400-65017600	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr14:65017400-65017600	Bivalent/Poised TSS	NHDF-Ad	bronchial
31	chr14:65017400-65017600	Enhancers	NHEK	skin
32	chr14:65017400-65017800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr14:65017400-65018000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:65017400-65018000	Enhancers	Brain Germinal Matrix	brain
35	chr14:65017400-65018000	Enhancers	Stomach Mucosa	stomach
36	chr14:65017400-65018600	Enhancers	Brain Hippocampus Middle	brain
37	chr14:65017400-65021000	Weak transcription	Placenta	Placenta
38	chr14:65017400-65021200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:65017400-65021200	Weak transcription	Pancreas	Pancrea
40	chr14:65017400-65027800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:65017600-65017800	Enhancers	Fetal Intestine Small	intestine
42	chr14:65017600-65018000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:65017600-65018000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr14:65017600-65018000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr14:65017600-65021200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:65017600-65021200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:65017800-65018200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:65018000-65021200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:65018000-65021200	Weak transcription	Stomach Mucosa	stomach
50	chr14:65018400-65021000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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