Variant report

Variant	esv3439820
Chromosome Location	chr14:105741407-105744305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105665489..105668109-chr14:105740976..105743490,2	MCF-7	breast:
2	chr14:105668630..105671458-chr14:105740355..105743089,2	K562	blood:
3	chr14:105670960..105673149-chr14:105739734..105742723,2	MCF-7	breast:
4	chr14:105741575..105743497-chr14:105765886..105767896,2	K562	blood:
5	chr14:105718698..105721537-chr14:105739124..105741867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179364	chromatin interactions
ENSG00000185024	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587641403	chr14:105741449-105741450	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139227859	chr14:105741456-105741457	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587605075	chr14:105741478-105741479	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587659338	chr14:105741491-105741492	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587726756	chr14:105741526-105741527	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587599295	chr14:105741626-105741627	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144158880	chr14:105741668-105741669	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146026304	chr14:105741703-105741704	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs139933991	chr14:105741770-105741771	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs587684727	chr14:105741776-105741777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs377376543	chr14:105741780-105741781	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79713454	chr14:105741781-105741782	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs587649760	chr14:105741838-105741839	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs587707218	chr14:105741841-105741842	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs587763347	chr14:105741843-105741844	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs587610356	chr14:105741959-105741960	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs114014497	chr14:105741969-105741970	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs193158368	chr14:105742002-105742003	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs587646568	chr14:105742014-105742015	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185353150	chr14:105742015-105742016	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs587705980	chr14:105742035-105742036	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs145535818	chr14:105742068-105742069	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs587647037	chr14:105742115-105742116	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188225125	chr14:105742119-105742120	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs148853677	chr14:105742131-105742132	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs587647577	chr14:105742158-105742159	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs587710957	chr14:105742182-105742183	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs587604078	chr14:105742190-105742191	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs587684941	chr14:105742199-105742200	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs587752170	chr14:105742225-105742226	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142539601	chr14:105742255-105742256	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs587682480	chr14:105742281-105742282	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs60091253	chr14:105742308-105742309	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2735815	chr14:105742315-105742316	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs60346114	chr14:105742335-105742336	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs71423836	chr14:105742361-105742362	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs2816633	chr14:105742368-105742369	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs587615532	chr14:105742369-105742370	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs74993541	chr14:105742381-105742382	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10147076	chr14:105742414-105742415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12888422	chr14:105742421-105742422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs28635378	chr14:105742451-105742452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs59484366	chr14:105742467-105742468	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs56362546	chr14:105742474-105742475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs370995710	chr14:105742487-105742488	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs71423838	chr14:105742520-105742521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112335640	chr14:105742521-105742522	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs71423837	chr14:105742527-105742528	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs78573758	chr14:105742540-105742541	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs56012726	chr14:105742574-105742575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105715600-105749400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105715800-105766000	Weak transcription	Fetal Kidney	kidney
3	chr14:105716400-105747800	Weak transcription	Hela-S3	cervix
4	chr14:105718600-105746600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:105719600-105748200	Weak transcription	Fetal Thymus	thymus
6	chr14:105720400-105749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:105720600-105748400	Weak transcription	HepG2	liver
8	chr14:105721800-105759800	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:105722000-105760600	Weak transcription	NH-A	brain
10	chr14:105722200-105741600	Weak transcription	HSMMtube	muscle
11	chr14:105722400-105750000	Weak transcription	Primary B cells from cord blood	blood
12	chr14:105723400-105750200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:105724000-105744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:105724200-105758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:105726200-105750400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:105726200-105750600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:105729200-105749400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:105729200-105754200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:105730600-105748200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:105730800-105741800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:105731000-105741600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:105731200-105759000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:105732000-105751600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:105734400-105747400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:105734800-105744200	Weak transcription	Left Ventricle	heart
26	chr14:105735200-105750200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:105735200-105750400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:105735400-105743400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:105735400-105748000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:105735800-105746800	Weak transcription	Dnd41	blood
31	chr14:105736000-105745400	Weak transcription	GM12878-XiMat	blood
32	chr14:105736000-105751000	Weak transcription	NHLF	lung
33	chr14:105736200-105746400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr14:105736400-105745800	Weak transcription	Fetal Brain Female	brain
35	chr14:105736400-105746000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr14:105736400-105748000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:105736400-105750000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:105737200-105742200	Enhancers	Pancreas	Pancrea
39	chr14:105737800-105746400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:105738000-105748000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:105738200-105741600	Weak transcription	Brain Anterior Caudate	brain
42	chr14:105738200-105752400	Weak transcription	Fetal Intestine Large	intestine
43	chr14:105738600-105747000	Weak transcription	Primary T cells from cord blood	blood
44	chr14:105739000-105741600	Weak transcription	Placenta	Placenta
45	chr14:105739000-105748000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:105739200-105741600	Weak transcription	Right Ventricle	heart
47	chr14:105739200-105741600	Weak transcription	Spleen	Spleen
48	chr14:105739200-105744000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:105739200-105744200	Weak transcription	Ovary	ovary
50	chr14:105739200-105745800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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