Variant report

Variant	esv3524890
Chromosome Location	chr14:35783568-35786564
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35780877..35783983-chr14:35784818..35787644,3	K562	blood:
2	chr14:35779341..35784196-chr14:35869353..35875195,7	K562	blood:
3	chr14:35782340..35785234-chr14:35821689..35824167,2	K562	blood:
4	chr14:35775541..35779277-chr14:35783449..35786784,6	MCF-7	breast:
5	chr14:35786509..35789581-chr14:35793946..35797059,3	K562	blood:
6	chr14:35777000..35779255-chr14:35781790..35784953,3	K562	blood:
7	chr14:35783009..35785578-chr14:35809337..35811839,2	MCF-7	breast:
8	chr14:35767249..35769056-chr14:35785281..35787174,2	MCF-7	breast:
9	chr14:35780488..35783983-chr14:35784818..35787644,4	K562	blood:
10	chr14:35785092..35787628-chr14:35800075..35803024,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100902	chromatin interactions
ENSG00000100906	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372676999	chr14:35783578-35783579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143235746	chr14:35783591-35783592	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376971702	chr14:35783643-35783644	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs13393	chr14:35783656-35783657	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554289737	chr14:35783659-35783660	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs116250929	chr14:35783684-35783685	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371132352	chr14:35783690-35783691	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs80013234	chr14:35783691-35783692	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs77796720	chr14:35783706-35783707	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140627355	chr14:35783708-35783709	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571273015	chr14:35783756-35783757	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs185656939	chr14:35783763-35783764	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547341382	chr14:35783793-35783794	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567130479	chr14:35783807-35783808	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536585718	chr14:35783823-35783824	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556489891	chr14:35783871-35783872	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569915028	chr14:35783902-35783903	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs541497263	chr14:35783943-35783944	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375472971	chr14:35783945-35783946	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200895242	chr14:35783949-35783950	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs66510383	chr14:35783950-35783951	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs538793910	chr14:35784043-35784044	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs79751510	chr14:35784054-35784055	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549887570	chr14:35784063-35784064	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190133452	chr14:35784097-35784098	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs371171855	chr14:35784153-35784154	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372570698	chr14:35784154-35784155	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs59477296	chr14:35784190-35784191	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544088508	chr14:35784195-35784196	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534728153	chr14:35784223-35784224	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554974079	chr14:35784257-35784258	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145637820	chr14:35784266-35784267	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543745551	chr14:35784301-35784302	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563634648	chr14:35784305-35784306	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76412840	chr14:35784430-35784431	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370115297	chr14:35784468-35784469	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181523148	chr14:35784469-35784470	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564853087	chr14:35784510-35784511	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374503483	chr14:35784513-35784514	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527410511	chr14:35784533-35784534	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200482574	chr14:35784600-35784601	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs8015051	chr14:35784602-35784603	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79042886	chr14:35784613-35784614	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79985571	chr14:35784616-35784617	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184418761	chr14:35784627-35784628	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560907877	chr14:35784628-35784629	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138260696	chr14:35784673-35784674	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374833586	chr14:35784681-35784682	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550105668	chr14:35784709-35784710	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188727031	chr14:35784710-35784711	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Lung adenocarcinoma	17982442	CNVD
Cancer	20164920	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:35766200-35792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:35770400-35789000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:35771600-35786800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:35772400-35788800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:35772400-35790400	Weak transcription	Fetal Heart	heart
8	chr14:35772600-35789000	Strong transcription	HepG2	liver
9	chr14:35772800-35788200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:35773400-35789000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:35774200-35789800	Strong transcription	Fetal Thymus	thymus
12	chr14:35774600-35784200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:35774600-35789400	Strong transcription	Dnd41	blood
14	chr14:35775000-35789200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:35775000-35790600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:35775200-35783800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:35775800-35785400	Strong transcription	A549	lung
18	chr14:35775800-35789200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:35776400-35789000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:35776400-35789000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:35776600-35784200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:35776600-35788800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr14:35776600-35789000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:35776800-35784600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:35776800-35784600	Weak transcription	Pancreas	Pancrea
26	chr14:35776800-35788400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:35776800-35788600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:35776800-35789200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:35777000-35788200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:35777000-35788200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:35777000-35788200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:35777000-35788200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr14:35777000-35789000	Strong transcription	Liver	Liver
34	chr14:35777000-35789400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:35777200-35784600	Strong transcription	HUVEC	blood vessel
36	chr14:35777200-35784800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:35777200-35784800	Strong transcription	Placenta	Placenta
38	chr14:35777200-35788200	Strong transcription	Osteobl	bone
39	chr14:35777200-35788400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:35777200-35788600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:35777200-35788800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:35777200-35788800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:35777200-35789000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:35777400-35788400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:35777400-35788400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:35777400-35789000	Strong transcription	Adipose Nuclei	Adipose
47	chr14:35777400-35789200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:35777600-35788200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr14:35777600-35788400	Strong transcription	GM12878-XiMat	blood
50	chr14:35777600-35789000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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