Variant report

Variant	esv3329450
Chromosome Location	chr14:105704207-105708705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105706872..105708771-chr14:105714517..105716369,2	MCF-7	breast:
2	chr14:105706521..105709177-chr14:105712711..105714374,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184887	chromatin interactions
ENSG00000185024	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201589357	chr14:105704466-105704467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148593819	chr14:105705078-105705079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144192896	chr14:105705180-105705181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146558624	chr14:105705236-105705237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140074590	chr14:105705282-105705283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143643748	chr14:105705486-105705487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146819107	chr14:105705588-105705589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112968661	chr14:105705996-105705997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150355590	chr14:105706098-105706099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145070296	chr14:105706200-105706201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149122729	chr14:105706302-105706303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145765327	chr14:105706404-105706405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138602763	chr14:105706506-105706507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141137809	chr14:105706608-105706609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146948723	chr14:105706703-105706704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs587746234	chr14:105706744-105706745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112898088	chr14:105706812-105706813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs57062661	chr14:105706868-105706869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587599621	chr14:105706904-105706905	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113919695	chr14:105706914-105706915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs587678180	chr14:105706954-105706955	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368307187	chr14:105706961-105706962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111248855	chr14:105706970-105706971	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs370570716	chr14:105706991-105706992	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201990775	chr14:105707009-105707010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200713696	chr14:105707016-105707017	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs587615644	chr14:105707050-105707051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200173612	chr14:105707072-105707073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60889851	chr14:105707111-105707112	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs587671570	chr14:105707115-105707116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113480699	chr14:105707118-105707119	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs587624568	chr14:105707148-105707149	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs587687613	chr14:105707163-105707164	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs1967639	chr14:105707174-105707175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs941388	chr14:105707213-105707214	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs111730401	chr14:105707220-105707221	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs587610226	chr14:105707221-105707222	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs10220362	chr14:105707241-105707242	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs587750800	chr14:105707258-105707259	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113560789	chr14:105707274-105707275	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs143975125	chr14:105707276-105707277	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs587775140	chr14:105707278-105707279	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs587666247	chr14:105707280-105707281	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs587746242	chr14:105707281-105707282	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs587602300	chr14:105707282-105707283	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs587649479	chr14:105707285-105707286	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs587716723	chr14:105707290-105707291	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs2103454	chr14:105707292-105707293	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs147279667	chr14:105707301-105707302	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs587728551	chr14:105707309-105707310	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Breast cancer	22522925	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105668600-105714200	Weak transcription	HUVEC	blood vessel
2	chr14:105669800-105713800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:105672400-105713200	Weak transcription	Osteobl	bone
4	chr14:105673600-105713600	Weak transcription	Stomach Mucosa	stomach
5	chr14:105676800-105713800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:105679800-105714000	Weak transcription	NHDF-Ad	bronchial
7	chr14:105680600-105714000	Weak transcription	Psoas Muscle	Psoas
8	chr14:105681400-105714000	Weak transcription	HSMMtube	muscle
9	chr14:105681400-105714200	Weak transcription	HSMM	muscle
10	chr14:105685600-105707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:105687200-105714000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:105687400-105714200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:105688400-105712000	Weak transcription	HepG2	liver
14	chr14:105688800-105713800	Weak transcription	NH-A	brain
15	chr14:105689800-105707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:105689800-105707200	Weak transcription	Right Ventricle	heart
17	chr14:105689800-105714000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:105690000-105710600	Weak transcription	Primary B cells from cord blood	blood
19	chr14:105690200-105713800	Weak transcription	NHEK	skin
20	chr14:105690400-105714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:105690400-105721400	Weak transcription	K562	blood
22	chr14:105691000-105707200	Weak transcription	Aorta	Aorta
23	chr14:105691600-105714000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:105692000-105707600	Weak transcription	A549	lung
25	chr14:105693000-105707400	Weak transcription	Colonic Mucosa	Colon
26	chr14:105693000-105710200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:105693000-105713600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:105693200-105707200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:105693200-105707200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:105693200-105707200	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:105693200-105707200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:105693200-105707200	Weak transcription	Gastric	stomach
33	chr14:105693200-105707200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:105693200-105707400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:105693200-105707400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:105693200-105707400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:105693200-105708000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:105693200-105708200	Weak transcription	Brain Anterior Caudate	brain
39	chr14:105693200-105713400	Weak transcription	GM12878-XiMat	blood
40	chr14:105693200-105713400	Weak transcription	Hela-S3	cervix
41	chr14:105693200-105713800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:105693200-105714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:105693400-105707200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:105693400-105707200	Weak transcription	Brain Angular Gyrus	brain
45	chr14:105693400-105707200	Weak transcription	Brain Substantia Nigra	brain
46	chr14:105693400-105707400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:105693400-105714000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:105693600-105707200	Weak transcription	Left Ventricle	heart
49	chr14:105693600-105707400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:105693600-105713200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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