Variant report

Variant	esv2760330
Chromosome Location	chr14:32364547-32377760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32369516..32371564-chr14:32376698..32378777,2	MCF-7	breast:
2	chr14:32369516..32371564-chr14:32376698..32378777,2	MCF-7	breast:

Extended variants
information (count: 453 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1953271	chr14:32364547-32364548	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146594667	chr14:32364560-32364561	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111778621	chr14:32364561-32364562	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555313451	chr14:32364600-32364601	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571505660	chr14:32364650-32364651	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs61068334	chr14:32364723-32364724	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs554138622	chr14:32364740-32364741	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs560338885	chr14:32364795-32364796	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs556813798	chr14:32364815-32364816	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs369120112	chr14:32364899-32364900	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs141427272	chr14:32364963-32364964	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs7156577	chr14:32364991-32364992	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190246383	chr14:32365181-32365182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182473351	chr14:32365249-32365250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113893876	chr14:32365254-32365255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527350855	chr14:32365300-32365301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145145740	chr14:32365312-32365313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536974913	chr14:32365363-32365364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116099961	chr14:32365394-32365395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549856360	chr14:32365413-32365414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs137890653	chr14:32365460-32365461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185902602	chr14:32365504-32365505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577345287	chr14:32365532-32365533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1029147	chr14:32365659-32365660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7159332	chr14:32365672-32365673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs34570696	chr14:32365702-32365703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140833707	chr14:32365737-32365738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533988048	chr14:32365776-32365777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569336914	chr14:32365777-32365778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190670430	chr14:32365795-32365796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555344092	chr14:32365862-32365863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567598529	chr14:32365872-32365873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376202537	chr14:32365913-32365914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556610931	chr14:32365915-32365916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1963748	chr14:32365931-32365932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs143026944	chr14:32365961-32365962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183180463	chr14:32366018-32366019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148231311	chr14:32366020-32366021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35466807	chr14:32366050-32366051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141183394	chr14:32366051-32366052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560964827	chr14:32366068-32366069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185695571	chr14:32366122-32366123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373954641	chr14:32366135-32366136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565061797	chr14:32366248-32366249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532408331	chr14:32366268-32366269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547204537	chr14:32366331-32366332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534101263	chr14:32366349-32366350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35984741	chr14:32366383-32366384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397853232	chr14:32366395-32366396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375782622	chr14:32366415-32366416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32354400-32364600	Weak transcription	HSMM	muscle
2	chr14:32358800-32366600	Weak transcription	Fetal Brain Female	brain
3	chr14:32360600-32365000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:32360600-32365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:32360800-32365200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:32361000-32365200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:32361200-32364800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:32361400-32365200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:32362000-32365200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:32362200-32365200	Enhancers	Stomach Mucosa	stomach
11	chr14:32362400-32364800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:32362400-32365000	Enhancers	Brain Cingulate Gyrus	brain
13	chr14:32362400-32365200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:32362400-32365200	Enhancers	Brain Hippocampus Middle	brain
15	chr14:32362400-32365200	Enhancers	HMEC	breast
16	chr14:32362600-32365000	Enhancers	Fetal Stomach	stomach
17	chr14:32362600-32365200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:32362600-32365600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:32363000-32364800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:32363000-32366800	Weak transcription	Fetal Lung	lung
21	chr14:32363200-32364600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:32363200-32365600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:32363200-32366200	Weak transcription	Left Ventricle	heart
24	chr14:32363400-32364600	Enhancers	Spleen	Spleen
25	chr14:32363400-32365200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr14:32363600-32364600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:32363600-32364600	Weak transcription	Fetal Kidney	kidney
28	chr14:32363600-32365000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:32363800-32365200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr14:32363800-32365200	Enhancers	NH-A	brain
31	chr14:32363800-32366400	Weak transcription	Brain Germinal Matrix	brain
32	chr14:32363800-32367000	Weak transcription	Fetal Heart	heart
33	chr14:32364000-32364800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:32364000-32364800	Enhancers	Brain Substantia Nigra	brain
35	chr14:32364000-32365000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr14:32364000-32365000	Enhancers	Brain Angular Gyrus	brain
37	chr14:32364000-32365000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr14:32364000-32365200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:32364000-32365200	Enhancers	Brain Anterior Caudate	brain
40	chr14:32364000-32367600	Weak transcription	Gastric	stomach
41	chr14:32364200-32364600	Flanking Active TSS	NHEK	skin
42	chr14:32364200-32364800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr14:32364200-32364800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr14:32364200-32364800	Enhancers	K562	blood
45	chr14:32364200-32364800	Enhancers	NHLF	lung
46	chr14:32364200-32365000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr14:32364200-32365000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:32364200-32365000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:32364200-32365000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:32364200-32365000	Enhancers	Osteobl	bone

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