Variant report

Variant	esv3330797
Chromosome Location	chr14:69140367-69140722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69133832..69136343-chr14:69137612..69140820,3	K562	blood:
2	chr14:69140612..69143897-chr14:69144932..69147672,3	K562	blood:
3	chr14:69131429..69134144-chr14:69139258..69141880,2	MCF-7	breast:
4	chr14:69125471..69127049-chr14:69139914..69141756,2	K562	blood:
5	chr14:69139896..69142806-chr14:69144430..69145954,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371193203	chr14:69140368-69140369	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376195787	chr14:69140372-69140373	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573555260	chr14:69140376-69140377	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565843373	chr14:69140383-69140384	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559649182	chr14:69140403-69140404	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532771499	chr14:69140404-69140405	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551392772	chr14:69140407-69140408	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10129183	chr14:69140415-69140416	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs118156754	chr14:69140419-69140420	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111174105	chr14:69140420-69140421	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549551932	chr14:69140427-69140428	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567849819	chr14:69140448-69140449	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12897266	chr14:69140449-69140450	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111217108	chr14:69140459-69140460	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201548240	chr14:69140470-69140471	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10129275	chr14:69140471-69140472	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546955366	chr14:69140472-69140473	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571941646	chr14:69140482-69140483	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150821634	chr14:69140505-69140506	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117427424	chr14:69140507-69140508	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10129286	chr14:69140518-69140519	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114503164	chr14:69140531-69140532	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10129291	chr14:69140536-69140537	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536352847	chr14:69140550-69140551	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149575605	chr14:69140575-69140576	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183551995	chr14:69140577-69140578	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143867476	chr14:69140593-69140594	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377573115	chr14:69140594-69140595	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146466515	chr14:69140600-69140601	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541250594	chr14:69140602-69140603	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559373810	chr14:69140608-69140609	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200486665	chr14:69140623-69140624	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140316753	chr14:69140626-69140627	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199519674	chr14:69140634-69140635	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185544872	chr14:69140641-69140642	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111206632	chr14:69140642-69140643	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200502364	chr14:69140647-69140648	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577885877	chr14:69140648-69140649	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374371872	chr14:69140658-69140659	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188433978	chr14:69140659-69140660	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563276395	chr14:69140674-69140675	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574130096	chr14:69140703-69140704	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69129800-69140600	Enhancers	Colon Smooth Muscle	Colon
2	chr14:69131200-69140600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr14:69132400-69141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:69133600-69140400	Enhancers	Pancreas	Pancrea
5	chr14:69133600-69141400	Weak transcription	HUVEC	blood vessel
6	chr14:69133800-69141400	Weak transcription	Aorta	Aorta
7	chr14:69136200-69141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:69136200-69145800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:69136600-69141400	Weak transcription	HMEC	breast
10	chr14:69136600-69141600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:69136800-69150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:69137200-69141800	Weak transcription	NH-A	brain
13	chr14:69137400-69141600	Weak transcription	Osteobl	bone
14	chr14:69137600-69140400	Enhancers	Liver	Liver
15	chr14:69137800-69141400	Weak transcription	HSMM	muscle
16	chr14:69137800-69141800	Weak transcription	Esophagus	oesophagus
17	chr14:69137800-69141800	Weak transcription	HSMMtube	muscle
18	chr14:69137800-69148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:69138000-69141600	Weak transcription	Spleen	Spleen
20	chr14:69138200-69141800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:69138200-69144400	Weak transcription	Small Intestine	intestine
22	chr14:69138400-69141400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:69138400-69141400	Weak transcription	Placenta	Placenta
24	chr14:69138600-69147800	Weak transcription	Brain Anterior Caudate	brain
25	chr14:69138800-69147200	Weak transcription	Lung	lung
26	chr14:69139200-69141800	Weak transcription	Fetal Thymus	thymus
27	chr14:69139200-69142000	Enhancers	GM12878-XiMat	blood
28	chr14:69139200-69150000	Weak transcription	Thymus	Thymus
29	chr14:69139400-69140400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:69139400-69140400	Enhancers	Gastric	stomach
31	chr14:69139400-69140400	Enhancers	Ovary	ovary
32	chr14:69139600-69141400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:69139600-69141400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:69139600-69141600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:69139800-69141400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:69139800-69141400	Weak transcription	Fetal Intestine Small	intestine
37	chr14:69139800-69142000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:69139800-69142800	Weak transcription	Fetal Stomach	stomach
39	chr14:69139800-69143000	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:69139800-69143000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:69139800-69143200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:69139800-69144200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:69139800-69144400	Weak transcription	Left Ventricle	heart
44	chr14:69139800-69144400	Weak transcription	Right Atrium	heart
45	chr14:69140000-69140400	Enhancers	Duodenum Mucosa	Duodenum
46	chr14:69140000-69140400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:69140000-69140800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:69140000-69140800	ZNF genes & repeats	Fetal Lung	lung
49	chr14:69140000-69141000	ZNF genes & repeats	Fetal Brain Male	brain
50	chr14:69140000-69141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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