Variant report

Variant	esv3373764
Chromosome Location	chr14:77735746-77736439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77719388..77722055-chr14:77734428..77736002,2	K562	blood:
2	chr14:77734678..77737344-chr14:77778616..77780685,2	MCF-7	breast:
3	chr14:77734159..77735864-chr14:77768086..77770638,2	MCF-7	breast:
4	chr14:77656618..77658691-chr14:77734209..77736747,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000009830	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs45608147	chr14:77735762-77735763	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573382690	chr14:77735778-77735779	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545568776	chr14:77735785-77735786	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10133981	chr14:77735793-77735794	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531200437	chr14:77735820-77735821	Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556338050	chr14:77735829-77735830	Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560916423	chr14:77735834-77735835	Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529701526	chr14:77735860-77735861	Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7149300	chr14:77735892-77735893	Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201378405	chr14:77735971-77735972	Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71125549	chr14:77736033-77736034	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12891813	chr14:77736054-77736055	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12891937	chr14:77736060-77736061	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377534154	chr14:77736070-77736071	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs202187141	chr14:77736076-77736077	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200281090	chr14:77736090-77736091	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1306963	chr14:77736127-77736128	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199860836	chr14:77736130-77736131	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1306964	chr14:77736133-77736134	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200215876	chr14:77736137-77736138	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs55924300	chr14:77736139-77736140	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183490506	chr14:77736144-77736145	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs56296896	chr14:77736145-77736146	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12433327	chr14:77736147-77736148	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs55958963	chr14:77736152-77736153	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12433329	chr14:77736154-77736155	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs55893591	chr14:77736163-77736164	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12433352	chr14:77736164-77736165	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs61420464	chr14:77736166-77736167	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187868387	chr14:77736266-77736267	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1600005	chr14:77736274-77736275	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs551922682	chr14:77736305-77736306	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568993535	chr14:77736335-77736336	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551439494	chr14:77736352-77736353	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542236103	chr14:77736356-77736357	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371812120	chr14:77736357-77736358	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554616712	chr14:77736363-77736364	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567640577	chr14:77736425-77736426	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78383795	chr14:77736439-77736440	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77735200-77736000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
2	chr14:77735400-77736000	Enhancers	HMEC	breast
3	chr14:77735400-77736000	Bivalent Enhancer	NHEK	skin
4	chr14:77735400-77736400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:77735400-77736400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:77735400-77736600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:77735400-77737400	Enhancers	Dnd41	blood
8	chr14:77735600-77735800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:77735600-77735800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:77735600-77735800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:77735600-77735800	Bivalent Enhancer	Esophagus	oesophagus
12	chr14:77735600-77736000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:77735600-77736200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr14:77735600-77736200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr14:77735600-77736600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:77735600-77736800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:77735600-77737200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr14:77735600-77738000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:77735600-77738000	Enhancers	Pancreas	Pancrea
20	chr14:77735800-77736000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr14:77735800-77736000	Bivalent Enhancer	Fetal Thymus	thymus
22	chr14:77735800-77736000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
23	chr14:77735800-77736400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:77735800-77737000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:77735800-77737000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:77736000-77736200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:77736000-77736200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr14:77736000-77736200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr14:77736000-77736200	Active TSS	HMEC	breast
30	chr14:77736000-77736200	Bivalent/Poised TSS	HSMM	muscle
31	chr14:77736000-77736200	Bivalent/Poised TSS	HSMMtube	muscle
32	chr14:77736000-77736200	Bivalent/Poised TSS	HUVEC	blood vessel
33	chr14:77736000-77736200	Bivalent/Poised TSS	K562	blood
34	chr14:77736000-77736200	Bivalent/Poised TSS	NHLF	lung
35	chr14:77736000-77736200	Bivalent/Poised TSS	Osteobl	bone
36	chr14:77736000-77736400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
37	chr14:77736000-77736400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr14:77736000-77736400	Bivalent/Poised TSS	GM12878-XiMat	blood
39	chr14:77736000-77736400	Flanking Bivalent TSS/Enh	NHEK	skin
40	chr14:77736000-77737800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:77736000-77738000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr14:77736200-77736400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr14:77736200-77736400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:77736200-77736400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr14:77736200-77736400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr14:77736200-77736400	Flanking Bivalent TSS/Enh	Pancreatic Islets	Pancreatic Islet
47	chr14:77736200-77736400	Bivalent/Poised TSS	Hela-S3	cervix
48	chr14:77736200-77736400	Flanking Bivalent TSS/Enh	HMEC	breast
49	chr14:77736200-77736400	Flanking Bivalent TSS/Enh	HSMM	muscle
50	chr14:77736200-77736400	Flanking Bivalent TSS/Enh	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links