Variant report

Variant	esv3393250
Chromosome Location	chr14:68602929-68603909
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68532345..68534667-chr14:68601779..68604351,2	MCF-7	breast:
2	chr14:68588139..68594823-chr14:68601028..68606199,6	MCF-7	breast:
3	chr14:68602495..68610533-chr14:68655867..68660749,19	MCF-7	breast:
4	chr14:68602556..68605498-chr14:68644856..68647677,2	MCF-7	breast:
5	chr14:68601379..68608308-chr14:69256404..69263440,24	MCF-7	breast:
6	chr14:68541688..68545482-chr14:68601842..68606347,5	MCF-7	breast:
7	chr14:68602359..68604172-chr14:68607453..68609034,2	K562	blood:
8	chr14:68569098..68575378-chr14:68600721..68608879,10	MCF-7	breast:
9	chr14:68569854..68573880-chr14:68602556..68607160,7	MCF-7	breast:
10	chr14:68405207..68413374-chr14:68603625..68613921,22	MCF-7	breast:
11	chr14:68405383..68414524-chr14:68603693..68608960,22	MCF-7	breast:
12	chr14:68601506..68610081-chr14:68654290..68661321,21	MCF-7	breast:
13	chr14:68603270..68607294-chr14:68934008..68937330,4	MCF-7	breast:
14	chr14:68603253..68606404-chr14:68630681..68636382,6	MCF-7	breast:
15	chr14:68430411..68433270-chr14:68602747..68607900,7	MCF-7	breast:
16	chr14:68600338..68604507-chr14:69260783..69264203,4	MCF-7	breast:
17	chr14:68602094..68605658-chr14:68697621..68700210,3	MCF-7	breast:
18	chr14:68603181..68605739-chr14:68855222..68857366,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17105031	chr14:68602987-68602988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553633220	chr14:68603028-68603029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs578221718	chr14:68603043-68603044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10140166	chr14:68603059-68603060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372344429	chr14:68603061-68603062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs61987538	chr14:68603063-68603064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370144844	chr14:68603067-68603068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61987539	chr14:68603072-68603073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs377306818	chr14:68603078-68603079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs61987540	chr14:68603079-68603080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs61987541	chr14:68603086-68603087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61987542	chr14:68603090-68603091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558998173	chr14:68603093-68603094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61987543	chr14:68603097-68603098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61987544	chr14:68603100-68603101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs61987545	chr14:68603104-68603105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61987546	chr14:68603105-68603106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61985060	chr14:68603116-68603117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192070931	chr14:68603120-68603121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61985061	chr14:68603121-68603122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61985062	chr14:68603123-68603124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs61985063	chr14:68603124-68603125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs61985064	chr14:68603125-68603126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61985065	chr14:68603148-68603149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61985066	chr14:68603156-68603157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61985067	chr14:68603159-68603160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs61985068	chr14:68603167-68603168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs61985069	chr14:68603170-68603171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs61985070	chr14:68603172-68603173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61985071	chr14:68603173-68603174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs61985072	chr14:68603175-68603176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs386778486	chr14:68603185-68603186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs61985074	chr14:68603187-68603188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs386778487	chr14:68603210-68603211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543562591	chr14:68603219-68603220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372299030	chr14:68603227-68603228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375987512	chr14:68603243-68603244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370082440	chr14:68603248-68603249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528904212	chr14:68603252-68603253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs28429624	chr14:68603267-68603268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113950154	chr14:68603392-68603393	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28573185	chr14:68603447-68603448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531742250	chr14:68603487-68603488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111581266	chr14:68603490-68603491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369155233	chr14:68603511-68603512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551550477	chr14:68603542-68603543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145099558	chr14:68603587-68603588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs569775367	chr14:68603625-68603626	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10129992	chr14:68603681-68603682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368505093	chr14:68603730-68603731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68592200-68603000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:68592400-68604600	Weak transcription	Psoas Muscle	Psoas
3	chr14:68592400-68606200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:68593400-68603400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:68594200-68604400	Weak transcription	Fetal Stomach	stomach
6	chr14:68596200-68604800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:68598800-68603800	Weak transcription	Adipose Nuclei	Adipose
8	chr14:68599600-68603600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:68599600-68603800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:68599800-68603000	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:68599800-68604400	Weak transcription	Ovary	ovary
12	chr14:68600000-68604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:68600000-68606200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:68601200-68606400	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:68601400-68604400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:68601800-68603200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:68601800-68604200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:68601800-68607200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:68601800-68608800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:68601800-68613600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:68601800-68614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:68601800-68614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:68601800-68615600	Enhancers	HMEC	breast
24	chr14:68602000-68603200	Enhancers	HSMMtube	muscle
25	chr14:68602000-68607400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:68602200-68603200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:68602200-68606600	Enhancers	NHEK	skin
28	chr14:68602400-68603800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:68602400-68603800	Weak transcription	GM12878-XiMat	blood
30	chr14:68602400-68604000	Weak transcription	Fetal Kidney	kidney
31	chr14:68602400-68604200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:68602400-68604200	Weak transcription	Stomach Mucosa	stomach
33	chr14:68602400-68609600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:68602400-68610200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:68602600-68603000	Weak transcription	A549	lung
36	chr14:68602600-68603600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:68602600-68603800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:68602600-68603800	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:68602600-68603800	Weak transcription	Fetal Intestine Small	intestine
40	chr14:68602600-68603800	Weak transcription	Hela-S3	cervix
41	chr14:68602600-68603800	Weak transcription	Osteobl	bone
42	chr14:68602600-68604200	Weak transcription	NHLF	lung
43	chr14:68602800-68603800	Weak transcription	HSMM	muscle
44	chr14:68602800-68603800	Weak transcription	NHDF-Ad	bronchial
45	chr14:68602800-68604000	Weak transcription	NH-A	brain
46	chr14:68603000-68603200	Enhancers	A549	lung
47	chr14:68603000-68604000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:68603000-68605000	Enhancers	Fetal Muscle Leg	muscle
49	chr14:68603200-68603600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:68603200-68603600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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