Variant report

Variant	esv3530200
Chromosome Location	chr14:70687433-70689751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:70689654-70689800	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70686436..70688109-chr14:70689739..70691554,2	MCF-7	breast:
2	chr14:70683028..70687657-chr14:70688132..70693219,5	K562	blood:
3	chr14:70668752..70670788-chr14:70688180..70689726,2	K562	blood:
4	chr14:70683028..70687657-chr14:70688132..70693219,7	K562	blood:

Variant related genes	Relation type
ENSG00000258422	TF binding region
ENSG00000258422	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372897538	chr14:70687477-70687478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34684164	chr14:70687494-70687495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563705527	chr14:70687523-70687524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191112833	chr14:70687525-70687526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141030391	chr14:70687656-70687657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562340260	chr14:70687691-70687692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs180714022	chr14:70687712-70687713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538730005	chr14:70687722-70687723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529454852	chr14:70687725-70687726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547915293	chr14:70687738-70687739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528462633	chr14:70687752-70687753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35810879	chr14:70687769-70687770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7142682	chr14:70687803-70687804	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571826598	chr14:70687809-70687810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139706106	chr14:70687835-70687836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376788579	chr14:70687858-70687859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533421836	chr14:70687865-70687866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565392451	chr14:70687869-70687870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs202109065	chr14:70687924-70687925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570036081	chr14:70687960-70687961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553945906	chr14:70688002-70688003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372376719	chr14:70688007-70688008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538166378	chr14:70688124-70688125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1364966	chr14:70688130-70688131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568295310	chr14:70688164-70688165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535295834	chr14:70688168-70688169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145000824	chr14:70688227-70688228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571825318	chr14:70688294-70688295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71423391	chr14:70688345-70688346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539119608	chr14:70688357-70688358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542901423	chr14:70688371-70688372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532749336	chr14:70688396-70688397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201095540	chr14:70688410-70688411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398077849	chr14:70688420-70688421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs398099444	chr14:70688421-70688422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200624413	chr14:70688422-70688423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186079909	chr14:70688469-70688470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147570078	chr14:70688470-70688471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1364965	chr14:70688489-70688490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112094862	chr14:70688507-70688508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569430616	chr14:70688519-70688520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373868539	chr14:70688547-70688548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72731894	chr14:70688567-70688568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55802436	chr14:70688570-70688571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191324329	chr14:70688601-70688602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142048451	chr14:70688606-70688607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75609498	chr14:70688617-70688618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541650941	chr14:70688642-70688643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559950654	chr14:70688652-70688653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533484762	chr14:70688661-70688662	Weak transcription	n/a	n/a	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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70656400-70688400	Weak transcription	Psoas Muscle	Psoas
2	chr14:70687400-70687800	Enhancers	K562	blood
3	chr14:70687800-70689600	Weak transcription	K562	blood
4	chr14:70689600-70690800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:70689600-70690800	Active TSS	K562	blood
6	chr14:70689600-70691000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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