Variant report

Variant	esv3388816
Chromosome Location	chr14:104003749-104006547
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104002894..104005189-chr14:104020540..104022849,2	K562	blood:
2	chr14:103966852..103969165-chr14:104004136..104006723,2	MCF-7	breast:
3	chr14:104006138..104009668-chr14:104023103..104027300,4	K562	blood:
4	chr14:104005381..104007221-chr14:104349678..104351959,2	K562	blood:
5	chr14:104005293..104008024-chr14:104095001..104096983,2	K562	blood:
6	chr14:104003474..104006501-chr14:104024765..104028078,3	MCF-7	breast:
7	chr14:104002192..104004863-chr14:104043017..104044904,2	K562	blood:
8	chr14:103793692..103795249-chr14:104002201..104004870,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000126214	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11849328	chr14:104003752-104003753	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs367776117	chr14:104003796-104003797	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529310018	chr14:104003832-104003833	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs544923685	chr14:104003833-104003834	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs141241299	chr14:104003873-104003874	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs150748380	chr14:104003947-104003948	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs528835081	chr14:104003964-104003965	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs372283072	chr14:104003987-104003988	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs548216187	chr14:104004047-104004048	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571899716	chr14:104004126-104004127	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10135868	chr14:104004147-104004148	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs550668474	chr14:104004148-104004149	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567223874	chr14:104004149-104004150	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530061919	chr14:104004197-104004198	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536250915	chr14:104004199-104004200	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs8013911	chr14:104004223-104004224	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566124797	chr14:104004300-104004301	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538572058	chr14:104004301-104004302	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs8014069	chr14:104004311-104004312	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs575111127	chr14:104004365-104004366	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10147045	chr14:104004374-104004375	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557430035	chr14:104004398-104004399	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185297347	chr14:104004492-104004493	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11627529	chr14:104004557-104004558	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs144041662	chr14:104004563-104004564	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559535647	chr14:104004588-104004589	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573253117	chr14:104004626-104004627	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552247555	chr14:104004640-104004641	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545752390	chr14:104004667-104004668	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569134721	chr14:104004668-104004669	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189879536	chr14:104004673-104004674	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145952154	chr14:104004674-104004675	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369276719	chr14:104004675-104004676	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139805067	chr14:104004676-104004677	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73359284	chr14:104004700-104004701	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372552236	chr14:104004707-104004708	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529795426	chr14:104004721-104004722	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78182702	chr14:104004742-104004743	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566163474	chr14:104004768-104004769	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34462319	chr14:104004779-104004780	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538212109	chr14:104004786-104004787	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11623470	chr14:104004810-104004811	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs568763968	chr14:104004850-104004851	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538054661	chr14:104004869-104004870	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35361221	chr14:104004895-104004896	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150805050	chr14:104004896-104004897	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150069023	chr14:104004933-104004934	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574573326	chr14:104004934-104004935	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181973919	chr14:104004953-104004954	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553489694	chr14:104004964-104004965	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996800-104004000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:103996800-104004000	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr14:103996800-104004600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:103996800-104005000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
6	chr14:103997000-104004800	Weak transcription	Psoas Muscle	Psoas
7	chr14:103997200-104004000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:103997200-104004600	Weak transcription	Fetal Heart	heart
9	chr14:103997200-104005400	Weak transcription	Fetal Lung	lung
10	chr14:103997400-104005000	Weak transcription	GM12878-XiMat	blood
11	chr14:103997600-104006800	Weak transcription	Small Intestine	intestine
12	chr14:103997600-104013000	Weak transcription	K562	blood
13	chr14:103997800-104004600	Weak transcription	Brain Angular Gyrus	brain
14	chr14:103997800-104004800	Weak transcription	Hela-S3	cervix
15	chr14:103999000-104004200	Weak transcription	Brain Anterior Caudate	brain
16	chr14:103999200-104004600	Weak transcription	HMEC	breast
17	chr14:103999400-104004600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:103999400-104006800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:104000200-104003800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:104000600-104008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:104000800-104004000	Strong transcription	Fetal Intestine Small	intestine
22	chr14:104001200-104003800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:104001200-104006600	Weak transcription	Primary T cells from cord blood	blood
24	chr14:104001400-104003800	Genic enhancers	Fetal Muscle Leg	muscle
25	chr14:104001400-104005000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:104001400-104007600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:104001600-104004000	Weak transcription	Stomach Mucosa	stomach
28	chr14:104001600-104004600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:104001600-104004600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:104001600-104004600	Weak transcription	Left Ventricle	heart
31	chr14:104001600-104005000	Weak transcription	Osteobl	bone
32	chr14:104001800-104004000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:104001800-104004400	Weak transcription	Fetal Thymus	thymus
34	chr14:104001800-104004600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:104002000-104004600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:104002000-104004800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr14:104002000-104005000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:104002000-104005200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:104002000-104005200	Weak transcription	Aorta	Aorta
40	chr14:104002000-104006200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:104002000-104006400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:104002000-104006800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:104002000-104008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:104002000-104012800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:104002200-104003800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:104002200-104004400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:104002200-104004600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:104002200-104004600	Weak transcription	Brain Substantia Nigra	brain
49	chr14:104002200-104004600	Weak transcription	Colonic Mucosa	Colon
50	chr14:104002200-104004800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links