Variant report

Variant	esv3437893
Chromosome Location	chr14:65263699-65267897
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65248996..65250592-chr14:65267178..65268809,2	MCF-7	breast:
2	chr14:65264347..65266634-chr14:65358841..65360422,2	MCF-7	breast:
3	chr14:65263442..65265552-chr14:65270691..65273167,2	K562	blood:
4	chr14:65263268..65264769-chr14:65377543..65379077,2	K562	blood:
5	chr14:65238855..65239748-chr14:65266872..65267431,2	MCF-7	breast:
6	chr14:65264806..65267601-chr14:65268101..65270976,2	K562	blood:
7	chr14:65138116..65138837-chr14:65266518..65267321,3	MCF-7	breast:
8	chr14:65255220..65257870-chr14:65263739..65266430,2	MCF-7	breast:
9	chr14:65228573..65229471-chr14:65266358..65267017,2	MCF-7	breast:
10	chr14:65267486..65269217-chr14:65357718..65359262,14	MCF-7	breast:
11	chr14:65263037..65265900-chr14:65453092..65455357,2	MCF-7	breast:
12	chr14:65137892..65138874-chr14:65266647..65267635,2	MCF-7	breast:
13	chr14:65264248..65268196-chr14:65377647..65381035,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070182	chromatin interactions
ENSG00000257365	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs536176482	chr14:65263730-65263731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377056099	chr14:65263754-65263755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185025737	chr14:65263818-65263819	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74056014	chr14:65263834-65263835	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4899146	chr14:65263839-65263840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs229585	chr14:65263860-65263861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539902870	chr14:65263879-65263880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs4902315	chr14:65263915-65263916	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189014160	chr14:65263926-65263927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs36102467	chr14:65263947-65263948	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542198134	chr14:65263994-65263995	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4902316	chr14:65263998-65263999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531501254	chr14:65263999-65264000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545225942	chr14:65264005-65264006	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564890046	chr14:65264058-65264059	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533466746	chr14:65264089-65264090	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547087133	chr14:65264091-65264092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566889382	chr14:65264164-65264165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111878221	chr14:65264174-65264175	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529400454	chr14:65264186-65264187	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs57385615	chr14:65264214-65264215	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs56220496	chr14:65264220-65264221	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74056015	chr14:65264221-65264222	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs229584	chr14:65264222-65264223	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181105004	chr14:65264240-65264241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569582350	chr14:65264243-65264244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538149947	chr14:65264396-65264397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375677796	chr14:65264397-65264398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76510906	chr14:65264421-65264422	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184108066	chr14:65264429-65264430	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201960938	chr14:65264434-65264435	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs45556435	chr14:65264444-65264445	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188112243	chr14:65264513-65264514	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200215995	chr14:65264514-65264515	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139892907	chr14:65264537-65264538	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376523884	chr14:65264545-65264546	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111530560	chr14:65264565-65264566	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368865951	chr14:65264580-65264581	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373580287	chr14:65264609-65264610	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140477374	chr14:65264614-65264615	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150429690	chr14:65264636-65264637	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181066703	chr14:65264637-65264638	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538283723	chr14:65264651-65264652	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73275650	chr14:65264656-65264657	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565110013	chr14:65264657-65264658	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552029169	chr14:65264658-65264659	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115519189	chr14:65264663-65264664	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560598462	chr14:65264671-65264672	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552496453	chr14:65264691-65264692	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529403577	chr14:65264708-65264709	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65232200-65274200	Weak transcription	Gastric	stomach
3	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
4	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
6	chr14:65251200-65267400	Weak transcription	Fetal Kidney	kidney
7	chr14:65251600-65264400	Weak transcription	Fetal Heart	heart
8	chr14:65252200-65265600	Weak transcription	Fetal Brain Female	brain
9	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
11	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
12	chr14:65255600-65268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:65257200-65271600	Strong transcription	Right Ventricle	heart
14	chr14:65257400-65267000	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:65258000-65266800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:65258000-65274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:65258200-65266800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:65258200-65271800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr14:65258400-65266800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:65258600-65272600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:65259000-65264200	Strong transcription	Left Ventricle	heart
22	chr14:65259800-65266600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:65262000-65270400	Weak transcription	Brain Anterior Caudate	brain
24	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:65262200-65271800	Weak transcription	Brain Angular Gyrus	brain
26	chr14:65262800-65270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:65263400-65265600	Weak transcription	Brain Germinal Matrix	brain
28	chr14:65263400-65271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:65263600-65265000	Weak transcription	K562	blood
30	chr14:65264200-65265800	Weak transcription	Left Ventricle	heart
31	chr14:65264400-65264800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:65264400-65266000	Strong transcription	Fetal Heart	heart
33	chr14:65265000-65266000	Strong transcription	Aorta	Aorta
34	chr14:65265000-65270000	Strong transcription	K562	blood
35	chr14:65265600-65266000	ZNF genes & repeats	Fetal Brain Male	brain
36	chr14:65265600-65268400	Strong transcription	Brain Germinal Matrix	brain
37	chr14:65265600-65269200	Strong transcription	Fetal Brain Female	brain
38	chr14:65265800-65266600	Strong transcription	Left Ventricle	heart
39	chr14:65266000-65266400	Weak transcription	Fetal Heart	heart
40	chr14:65266000-65266800	Weak transcription	Fetal Brain Male	brain
41	chr14:65266000-65272400	Weak transcription	Aorta	Aorta
42	chr14:65266400-65267400	Enhancers	Fetal Heart	heart
43	chr14:65266600-65267000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:65266600-65267200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr14:65266600-65267400	Genic enhancers	Left Ventricle	heart
46	chr14:65266600-65267400	Enhancers	A549	lung
47	chr14:65266800-65267000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:65266800-65267000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:65266800-65267000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:65266800-65267200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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