Variant report

Variant	esv3428022
Chromosome Location	chr14:65269324-65272483
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	chr14:65272282..65274917-chr14:65276747..65279585,3	MCF-7	breast:
2	chr14:65269057..65270107-chr14:65289880..65290862,3	MCF-7	breast:
3	chr14:65263442..65265552-chr14:65270691..65273167,2	K562	blood:
4	chr14:65231019..65234002-chr14:65270043..65272180,2	K562	blood:
5	chr14:65264806..65267601-chr14:65268101..65270976,2	K562	blood:
6	chr14:65270920..65271571-chr14:65289735..65290545,2	K562	blood:
7	chr14:65272312..65275235-chr14:65380241..65382678,2	K562	blood:
8	chr14:65268763..65270591-chr14:65452749..65454968,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070182	chromatin interactions
ENSG00000125954	chromatin interactions
ENSG00000257365	chromatin interactions
ENSG00000258289	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs143066032	chr14:65269349-65269350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576189789	chr14:65269375-65269376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116025748	chr14:65269417-65269418	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564616098	chr14:65269432-65269433	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189069492	chr14:65269443-65269444	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181457057	chr14:65269445-65269446	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74056021	chr14:65269451-65269452	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186143135	chr14:65269466-65269467	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368213	chr14:65269476-65269477	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs445196	chr14:65269480-65269481	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs179382	chr14:65269488-65269489	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549378092	chr14:65269542-65269543	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569519246	chr14:65269617-65269618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191031854	chr14:65269687-65269688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369408740	chr14:65269706-65269707	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs17180497	chr14:65269707-65269708	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115577195	chr14:65269718-65269719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557560614	chr14:65269722-65269723	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74056022	chr14:65269774-65269775	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568863982	chr14:65269778-65269779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573519481	chr14:65269784-65269785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114696116	chr14:65269806-65269807	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537803393	chr14:65269841-65269842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370842182	chr14:65269857-65269858	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375065663	chr14:65269942-65269943	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148232163	chr14:65269972-65269973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183347788	chr14:65270019-65270020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4902317	chr14:65270024-65270025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs578147440	chr14:65270058-65270059	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185858226	chr14:65270080-65270081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560550778	chr14:65270090-65270091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529306794	chr14:65270092-65270093	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541789310	chr14:65270113-65270114	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191156134	chr14:65270122-65270123	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs3842325	chr14:65270215-65270216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs17180504	chr14:65270216-65270217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11623771	chr14:65270222-65270223	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs201379995	chr14:65270265-65270266	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs17767579	chr14:65270272-65270273	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200978337	chr14:65270273-65270274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374491507	chr14:65270279-65270280	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183198217	chr14:65270297-65270298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529683389	chr14:65270298-65270299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369421535	chr14:65270308-65270309	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201559808	chr14:65270312-65270313	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142691499	chr14:65270313-65270314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs267604025	chr14:65270328-65270329	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs267604026	chr14:65270334-65270335	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547207486	chr14:65270369-65270370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139699062	chr14:65270385-65270386	Weak transcription 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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65232200-65274200	Weak transcription	Gastric	stomach
2	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
4	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
6	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
7	chr14:65257200-65271600	Strong transcription	Right Ventricle	heart
8	chr14:65258000-65274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:65258200-65271800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr14:65258600-65272600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:65262000-65270400	Weak transcription	Brain Anterior Caudate	brain
12	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:65262200-65271800	Weak transcription	Brain Angular Gyrus	brain
14	chr14:65262800-65270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:65263400-65271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:65265000-65270000	Strong transcription	K562	blood
17	chr14:65266000-65272400	Weak transcription	Aorta	Aorta
18	chr14:65267000-65271800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:65267200-65271600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:65267200-65272000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:65267200-65272200	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:65267200-65272600	Weak transcription	Pancreas	Pancrea
23	chr14:65267400-65271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:65267400-65271800	Weak transcription	A549	lung
25	chr14:65267400-65271800	Weak transcription	NHEK	skin
26	chr14:65267400-65272400	Weak transcription	Hela-S3	cervix
27	chr14:65267400-65273200	Weak transcription	Fetal Heart	heart
28	chr14:65267800-65272000	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:65268400-65290200	Weak transcription	Brain Germinal Matrix	brain
30	chr14:65268600-65272600	Weak transcription	Left Ventricle	heart
31	chr14:65269000-65269400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:65269200-65270800	Weak transcription	Fetal Brain Female	brain
33	chr14:65269200-65271800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:65269200-65272600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:65269200-65274400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:65269400-65269600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:65269600-65272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:65270000-65271600	Weak transcription	K562	blood
39	chr14:65270400-65270600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:65270400-65271400	Strong transcription	Brain Anterior Caudate	brain
41	chr14:65270600-65274400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:65271200-65272600	Weak transcription	HSMMtube	muscle
43	chr14:65271400-65289800	Weak transcription	Brain Anterior Caudate	brain
44	chr14:65271600-65272000	Strong transcription	K562	blood
45	chr14:65271600-65273800	Weak transcription	Right Ventricle	heart
46	chr14:65271600-65274600	Enhancers	HMEC	breast
47	chr14:65271600-65274800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:65271600-65274800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:65271800-65272000	Enhancers	A549	lung
50	chr14:65271800-65272600	Enhancers	Muscle Satellite Cultured Cells	--

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