Variant report

Variant	esv3378722
Chromosome Location	chr14:24545362-24547860
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24543783..24548039-chr14:24613906..24618188,3	K562	blood:
2	chr14:24538106..24543519-chr14:24545125..24550505,8	MCF-7	breast:
3	chr14:24544738..24546942-chr14:24701950..24703617,2	MCF-7	breast:
4	chr14:24547241..24549837-chr14:24550625..24552394,2	MCF-7	breast:
5	chr14:24526871..24528812-chr14:24546402..24548795,2	MCF-7	breast:
6	chr14:24542884..24546835-chr14:24548833..24551522,5	K562	blood:
7	chr14:24536726..24542403-chr14:24546642..24552586,6	K562	blood:
8	chr14:24545336..24549384-chr14:24554434..24556599,3	MCF-7	breast:
9	chr14:24535248..24537317-chr14:24546944..24548935,2	MCF-7	breast:
10	chr14:24546516..24548358-chr14:24550728..24552939,2	K562	blood:
11	chr14:24545719..24548235-chr14:24559934..24562194,2	MCF-7	breast:
12	chr14:24537898..24539731-chr14:24546642..24549464,2	K562	blood:
13	chr14:24040173..24042645-chr14:24543729..24546206,2	MCF-7	breast:
14	chr14:24546002..24548017-chr14:24657591..24660026,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100911	chromatin interactions
ENSG00000100938	chromatin interactions
ENSG00000092051	chromatin interactions
ENSG00000196497	chromatin interactions
ENSG00000259522	chromatin interactions
ENSG00000092098	chromatin interactions
ENSG00000129535	chromatin interactions
ENSG00000100884	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2070342	chr14:24545366-24545367	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2070341	chr14:24545375-24545376	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs75299362	chr14:24545398-24545399	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs199515655	chr14:24545409-24545410	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs562761783	chr14:24545411-24545412	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs144417886	chr14:24545428-24545429	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs548376004	chr14:24545455-24545456	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs142449845	chr14:24545458-24545459	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs527882010	chr14:24545483-24545484	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs374782447	chr14:24545486-24545487	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs548010263	chr14:24545509-24545510	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs369769999	chr14:24545535-24545536	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs571120777	chr14:24545539-24545540	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs373519360	chr14:24545541-24545542	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs146313186	chr14:24545577-24545578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs377321173	chr14:24545578-24545579	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs369730854	chr14:24545603-24545604	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs373636695	chr14:24545613-24545614	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs139035718	chr14:24545620-24545621	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs377488418	chr14:24545621-24545622	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs148402191	chr14:24545636-24545637	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs201388610	chr14:24545637-24545638	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs200258153	chr14:24545661-24545662	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs371464073	chr14:24545667-24545668	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs199585181	chr14:24545671-24545672	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs368461112	chr14:24545680-24545681	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs202054800	chr14:24545697-24545698	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs371861222	chr14:24545699-24545700	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs571856891	chr14:24545763-24545764	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs534464893	chr14:24545775-24545776	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs200941113	chr14:24545788-24545789	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs577486308	chr14:24545793-24545794	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs147532618	chr14:24545794-24545795	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs368834507	chr14:24545801-24545802	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs371710629	chr14:24545802-24545803	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs45621931	chr14:24545835-24545836	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542253329	chr14:24545856-24545857	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs140223752	chr14:24545883-24545884	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs563703334	chr14:24545954-24545955	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs527793034	chr14:24545981-24545982	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs114078013	chr14:24545982-24545983	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs2070345	chr14:24545984-24545985	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs199803773	chr14:24546008-24546009	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs559577873	chr14:24546010-24546011	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs145526512	chr14:24546022-24546023	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs550194065	chr14:24546039-24546040	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs374710654	chr14:24546048-24546049	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs367828591	chr14:24546058-24546059	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs570368959	chr14:24546070-24546071	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs373081641	chr14:24546073-24546074	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24522200-24547200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:24522200-24549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:24540800-24545400	Enhancers	Fetal Intestine Small	intestine
4	chr14:24541600-24550200	Weak transcription	Spleen	Spleen
5	chr14:24541800-24545400	Enhancers	Fetal Intestine Large	intestine
6	chr14:24541800-24549800	Weak transcription	Colonic Mucosa	Colon
7	chr14:24542000-24547200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:24542000-24550400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:24542400-24547200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:24543000-24548400	Weak transcription	Fetal Brain Female	brain
11	chr14:24543200-24545600	Enhancers	Gastric	stomach
12	chr14:24543200-24545600	Enhancers	Stomach Mucosa	stomach
13	chr14:24543400-24547000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:24543400-24548600	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:24543600-24546800	Weak transcription	Fetal Brain Male	brain
16	chr14:24543600-24548400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:24544000-24545800	Enhancers	Liver	Liver
18	chr14:24544000-24546800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:24544000-24550400	Weak transcription	Small Intestine	intestine
20	chr14:24544200-24545400	Enhancers	Primary B cells from cord blood	blood
21	chr14:24544200-24545800	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:24544400-24545600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr14:24544400-24546200	Weak transcription	Brain Anterior Caudate	brain
24	chr14:24544600-24545600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:24544600-24546000	Bivalent Enhancer	HepG2	liver
26	chr14:24544600-24550000	Weak transcription	Pancreas	Pancrea
27	chr14:24544800-24546400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:24545200-24545400	Enhancers	K562	blood
29	chr14:24545200-24545600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:24545200-24545600	Enhancers	GM12878-XiMat	blood
31	chr14:24545200-24549400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:24545200-24549800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:24545400-24549000	Weak transcription	Fetal Intestine Small	intestine
34	chr14:24545400-24549200	Weak transcription	Primary B cells from cord blood	blood
35	chr14:24545600-24546200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:24545600-24546200	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:24545600-24549200	Weak transcription	GM12878-XiMat	blood
38	chr14:24545600-24550000	Weak transcription	Gastric	stomach
39	chr14:24545800-24549000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr14:24545800-24549000	Weak transcription	Liver	Liver
41	chr14:24546200-24546600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:24546200-24547800	Strong transcription	Brain Anterior Caudate	brain
43	chr14:24546200-24549400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr14:24546400-24547000	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr14:24546600-24547800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:24546600-24549400	Enhancers	Brain Germinal Matrix	brain
47	chr14:24546800-24547000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr14:24546800-24547000	Enhancers	Esophagus	oesophagus
49	chr14:24546800-24547400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:24546800-24549000	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links