Variant report

Variant	esv3392590
Chromosome Location	chr14:69138099-69142797
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69135606..69138335-chr14:69141741..69144459,2	K562	blood:
2	chr14:68923972..68925932-chr14:69141412..69143252,2	MCF-7	breast:
3	chr14:69140612..69143897-chr14:69144932..69147672,3	K562	blood:
4	chr14:69125471..69127049-chr14:69139914..69141756,2	K562	blood:
5	chr14:68978260..68979920-chr14:69142414..69145003,2	MCF-7	breast:
6	chr14:69131429..69134144-chr14:69139258..69141880,2	MCF-7	breast:
7	chr14:68772159..68774969-chr14:69141691..69143278,2	MCF-7	breast:
8	chr14:68683371..68686097-chr14:69141858..69143811,2	MCF-7	breast:
9	chr14:69134172..69139010-chr14:69141375..69149578,10	MCF-7	breast:
10	chr14:69134172..69139010-chr14:69141375..69149578,10	MCF-7	breast:
11	chr14:69133832..69136343-chr14:69137612..69140820,3	K562	blood:
12	chr14:69136047..69138939-chr14:69257858..69260022,2	MCF-7	breast:
13	chr14:69135213..69137998-chr14:69141394..69143507,2	K562	blood:
14	chr14:69135606..69138335-chr14:69141741..69144459,2	K562	blood:
15	chr14:69142746..69145365-chr14:69149746..69153612,4	MCF-7	breast:
16	chr14:69142355..69144666-chr14:69256973..69259455,3	MCF-7	breast:
17	chr14:69139896..69142806-chr14:69144430..69145954,2	MCF-7	breast:
18	chr14:69135342..69138220-chr14:69251812..69254246,3	MCF-7	breast:
19	chr14:69135163..69138433-chr14:69253381..69256007,3	MCF-7	breast:
20	chr14:69141367..69143864-chr14:69145141..69147073,2	MCF-7	breast:
21	chr14:69142189..69144606-chr14:69257532..69259635,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258623	chromatin interactions
ENSG00000185650	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189745381	chr14:69138099-69138100	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181628865	chr14:69138101-69138102	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570682581	chr14:69138113-69138114	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549630308	chr14:69138122-69138123	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142538803	chr14:69138142-69138143	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144898149	chr14:69138195-69138196	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568035142	chr14:69138215-69138216	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535224107	chr14:69138227-69138228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186865068	chr14:69138265-69138266	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535184259	chr14:69138273-69138274	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs8020743	chr14:69138288-69138289	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572595828	chr14:69138289-69138290	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565775470	chr14:69138293-69138294	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539916558	chr14:69138294-69138295	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533503480	chr14:69138299-69138300	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34610375	chr14:69138312-69138313	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546107522	chr14:69138329-69138330	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35668688	chr14:69138366-69138367	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10483820	chr14:69138371-69138372	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs79200163	chr14:69138375-69138376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147961071	chr14:69138407-69138408	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113173093	chr14:69138425-69138426	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189338584	chr14:69138456-69138457	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76836783	chr14:69138497-69138498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181887500	chr14:69138521-69138522	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550807064	chr14:69138536-69138537	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369267119	chr14:69138537-69138538	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150230616	chr14:69138548-69138549	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186533193	chr14:69138636-69138637	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189836543	chr14:69138650-69138651	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs140635243	chr14:69138665-69138666	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570691937	chr14:69138677-69138678	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150081800	chr14:69138695-69138696	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369168674	chr14:69138754-69138755	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11629026	chr14:69138762-69138763	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549324598	chr14:69138837-69138838	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs59235868	chr14:69138859-69138860	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535124729	chr14:69138878-69138879	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138412191	chr14:69138879-69138880	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565669826	chr14:69138999-69139000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539986820	chr14:69139046-69139047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558087585	chr14:69139126-69139127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576632689	chr14:69139138-69139139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536148945	chr14:69139139-69139140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74060016	chr14:69139150-69139151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556051247	chr14:69139151-69139152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58017786	chr14:69139231-69139232	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574081383	chr14:69139333-69139334	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182733147	chr14:69139340-69139341	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs148840155	chr14:69139382-69139383	Enhancers Weak transcription Flanking Active TSS	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:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69120800-69139800	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69129000-69140200	Enhancers	NHDF-Ad	bronchial
3	chr14:69129200-69140000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:69129800-69140600	Enhancers	Colon Smooth Muscle	Colon
5	chr14:69130400-69139600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:69130600-69140000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:69130600-69140000	Enhancers	Rectal Smooth Muscle	rectum
8	chr14:69131200-69138400	Enhancers	Placenta	Placenta
9	chr14:69131200-69139800	Enhancers	Fetal Stomach	stomach
10	chr14:69131200-69140600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr14:69132400-69141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:69133400-69140000	Weak transcription	Primary T cells from cord blood	blood
13	chr14:69133600-69138800	Enhancers	Lung	lung
14	chr14:69133600-69140400	Enhancers	Pancreas	Pancrea
15	chr14:69133600-69141400	Weak transcription	HUVEC	blood vessel
16	chr14:69133800-69140000	Weak transcription	Fetal Brain Male	brain
17	chr14:69133800-69141400	Weak transcription	Aorta	Aorta
18	chr14:69134000-69139200	Weak transcription	GM12878-XiMat	blood
19	chr14:69134400-69139800	Enhancers	Right Atrium	heart
20	chr14:69134600-69138400	Enhancers	Fetal Muscle Trunk	muscle
21	chr14:69134600-69139600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:69134800-69139400	Weak transcription	Fetal Intestine Large	intestine
23	chr14:69135200-69138400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:69135400-69139200	Enhancers	Fetal Heart	heart
25	chr14:69135400-69140000	Enhancers	Adipose Nuclei	Adipose
26	chr14:69135600-69139400	Weak transcription	Primary B cells from cord blood	blood
27	chr14:69135800-69138200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:69136000-69139800	Enhancers	Left Ventricle	heart
29	chr14:69136000-69139800	Enhancers	Right Ventricle	heart
30	chr14:69136200-69141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:69136200-69145800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:69136400-69139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:69136400-69139400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:69136600-69138600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:69136600-69139600	Enhancers	Psoas Muscle	Psoas
36	chr14:69136600-69140000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:69136600-69141400	Weak transcription	HMEC	breast
38	chr14:69136600-69141600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:69136800-69139800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr14:69136800-69150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:69137000-69139800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:69137200-69141800	Weak transcription	NH-A	brain
43	chr14:69137400-69138800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:69137400-69139400	Weak transcription	Gastric	stomach
45	chr14:69137400-69139400	Weak transcription	Ovary	ovary
46	chr14:69137400-69139400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:69137400-69140000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr14:69137400-69141600	Weak transcription	Osteobl	bone
49	chr14:69137600-69138600	Weak transcription	NHLF	lung
50	chr14:69137600-69139200	Enhancers	Fetal Thymus	thymus

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