Variant report

Variant	esv3375728
Chromosome Location	chr14:21777137-21779685
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21731798..21735401-chr14:21775005..21778167,4	MCF-7	breast:
2	chr14:21698305..21701103-chr14:21775340..21777251,2	MCF-7	breast:
3	chr14:21733893..21736248-chr14:21775936..21778469,3	K562	blood:
4	chr14:21725317..21729371-chr14:21774547..21778706,6	K562	blood:
5	chr14:21775709..21778456-chr14:21815008..21816691,2	MCF-7	breast:
6	chr14:21730115..21732637-chr14:21776169..21779224,3	MCF-7	breast:
7	chr14:21735133..21741012-chr14:21774869..21780347,13	MCF-7	breast:
8	chr14:21770316..21772335-chr14:21774235..21777152,2	K562	blood:
9	chr14:21730591..21733022-chr14:21775297..21777656,3	K562	blood:
10	chr14:21673277..21675794-chr14:21775419..21778094,2	MCF-7	breast:
11	chr14:21736279..21738855-chr14:21774365..21778910,7	K562	blood:
12	chr14:21777189..21779079-chr14:21786297..21788417,2	MCF-7	breast:
13	chr14:21776722..21779291-chr14:21780222..21782831,3	K562	blood:
14	chr14:21775706..21777351-chr14:21851149..21853404,2	MCF-7	breast:
15	chr14:21734939..21739093-chr14:21774613..21780791,11	K562	blood:
16	chr14:21775799..21777853-chr14:21792862..21795336,2	MCF-7	breast:
17	chr14:21774765..21778578-chr14:21848688..21854259,7	MCF-7	breast:
18	chr14:21774301..21777973-chr14:21828099..21831298,3	K562	blood:
19	chr14:21776722..21779782-chr14:21780222..21783756,4	K562	blood:
20	chr14:21775315..21780588-chr14:21785592..21789606,7	K562	blood:
21	chr14:21735883..21738830-chr14:21774715..21778854,7	MCF-7	breast:
22	chr14:21775315..21780554-chr14:21785592..21789539,5	K562	blood:
23	chr14:21777230..21779351-chr14:21782852..21785830,2	MCF-7	breast:
24	chr14:21776403..21778650-chr14:21847769..21849405,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092201	chromatin interactions
ENSG00000258441	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000092200	chromatin interactions
ENSG00000260830	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558386110	chr14:21777139-21777140	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs575249018	chr14:21777148-21777149	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs78601650	chr14:21777233-21777234	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs144816587	chr14:21777262-21777263	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs367690416	chr14:21777295-21777296	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs371325905	chr14:21777327-21777328	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs146754574	chr14:21777420-21777421	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs540685087	chr14:21777425-21777426	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs560539734	chr14:21777438-21777439	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs184214906	chr14:21777461-21777462	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs187322843	chr14:21777464-21777465	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs192304659	chr14:21777485-21777486	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs184618065	chr14:21777501-21777502	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs57046561	chr14:21777553-21777554	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs57917639	chr14:21777601-21777602	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190246722	chr14:21777627-21777628	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs79499868	chr14:21777640-21777641	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs12433693	chr14:21777646-21777647	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs193274351	chr14:21777648-21777649	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs564909563	chr14:21777667-21777668	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs77190401	chr14:21777672-21777673	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs12433536	chr14:21777712-21777713	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111246031	chr14:21777724-21777725	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs558322375	chr14:21777815-21777816	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs527264419	chr14:21777832-21777833	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs35281879	chr14:21777859-21777860	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs10152068	chr14:21777901-21777902	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs184173407	chr14:21777903-21777904	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs34663691	chr14:21777946-21777947	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs146224548	chr14:21777993-21777994	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs398117962	chr14:21778002-21778003	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs76831988	chr14:21778003-21778004	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs201016898	chr14:21778004-21778005	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs61977481	chr14:21778006-21778007	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs140456392	chr14:21778028-21778029	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs568040628	chr14:21778065-21778066	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs376008791	chr14:21778078-21778079	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs200920456	chr14:21778098-21778099	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs202192625	chr14:21778099-21778100	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs34213128	chr14:21778100-21778101	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs3064199	chr14:21778101-21778102	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs66526042	chr14:21778187-21778188	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs143605235	chr14:21778204-21778205	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs577405670	chr14:21778351-21778352	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs200017511	chr14:21778398-21778399	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs201361696	chr14:21778400-21778401	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs201960086	chr14:21778401-21778402	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs200994615	chr14:21778409-21778410	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs563053261	chr14:21778425-21778426	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs576844656	chr14:21778432-21778433	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	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
Developmental delay	21147756	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
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ewing''s sarcoma	18628472	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21776000-21777600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:21776000-21777600	Flanking Active TSS	HepG2	liver
3	chr14:21776200-21777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:21776200-21777600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr14:21776200-21777600	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:21776200-21777600	Enhancers	Small Intestine	intestine
7	chr14:21776400-21777200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:21776400-21777400	Active TSS	Brain Substantia Nigra	brain
9	chr14:21776400-21777400	Active TSS	Fetal Brain Male	brain
10	chr14:21776400-21777400	Active TSS	Right Atrium	heart
11	chr14:21776400-21777400	Active TSS	Right Ventricle	heart
12	chr14:21776400-21777600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr14:21776400-21777600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:21776400-21777600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr14:21776400-21777600	Active TSS	Brain Cingulate Gyrus	brain
16	chr14:21776400-21777600	Active TSS	Fetal Brain Female	brain
17	chr14:21776400-21777800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:21776400-21777800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:21776600-21777200	Bivalent/Poised TSS	Aorta	Aorta
20	chr14:21776600-21777200	Bivalent/Poised TSS	Osteobl	bone
21	chr14:21776600-21777400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:21776600-21777400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:21776600-21777400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:21776600-21777400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:21776600-21777400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:21776600-21777400	Active TSS	Brain Angular Gyrus	brain
27	chr14:21776600-21777400	Active TSS	Esophagus	oesophagus
28	chr14:21776600-21777400	Active TSS	Fetal Intestine Large	intestine
29	chr14:21776600-21777400	Active TSS	Pancreas	Pancrea
30	chr14:21776600-21777400	Active TSS	Stomach Mucosa	stomach
31	chr14:21776600-21777400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr14:21776600-21777400	Active TSS	A549	lung
33	chr14:21776600-21777400	Bivalent/Poised TSS	HUVEC	blood vessel
34	chr14:21776600-21777400	Active TSS	NH-A	brain
35	chr14:21776600-21777600	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr14:21776600-21777600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:21776600-21777600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:21776600-21777600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr14:21776600-21777600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr14:21776600-21777600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr14:21776600-21777600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:21776600-21777600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:21776600-21777600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:21776600-21777600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:21776600-21777600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr14:21776600-21777600	Active TSS	Brain Hippocampus Middle	brain
47	chr14:21776600-21777600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr14:21776600-21777600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:21776600-21777600	Active TSS	Colonic Mucosa	Colon
50	chr14:21776600-21777600	Active TSS	Duodenum Smooth Muscle	Duodenum

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