Variant report

Variant	esv3521784
Chromosome Location	chr14:32923770-32924276
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	chr14:32901776..32904730-chr14:32922169..32924745,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151320	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 60 )

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	rs538417968	chr14:32923822-32923823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs145451266	chr14:32923824-32923825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370701061	chr14:32923825-32923826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566498482	chr14:32923836-32923837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556828468	chr14:32923837-32923838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145716340	chr14:32923842-32923843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs61981158	chr14:32923843-32923844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147494116	chr14:32923875-32923876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375809888	chr14:32923883-32923884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150476048	chr14:32923886-32923887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201086198	chr14:32923888-32923889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545058757	chr14:32923891-32923892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553588281	chr14:32923895-32923896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148533589	chr14:32923899-32923900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142925730	chr14:32923901-32923902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560847378	chr14:32923903-32923904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371445793	chr14:32923912-32923913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186210906	chr14:32923915-32923916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191086550	chr14:32923947-32923948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543199615	chr14:32923955-32923956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs199776551	chr14:32923967-32923968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532230668	chr14:32923975-32923976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551809205	chr14:32923983-32923984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566889290	chr14:32923986-32923987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182730033	chr14:32923991-32923992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549424637	chr14:32923999-32924000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567942791	chr14:32924007-32924008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187419582	chr14:32924011-32924012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372954206	chr14:32924015-32924016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191294696	chr14:32924019-32924020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183100244	chr14:32924022-32924023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188380391	chr14:32924027-32924028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs151079385	chr14:32924030-32924031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573962910	chr14:32924043-32924044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544554655	chr14:32924047-32924048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192257867	chr14:32924051-32924052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577616947	chr14:32924054-32924055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544731578	chr14:32924055-32924056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576589162	chr14:32924056-32924057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183941947	chr14:32924067-32924068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376989558	chr14:32924075-32924076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187700574	chr14:32924087-32924088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs67470256	chr14:32924107-32924108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7155071	chr14:32924110-32924111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535823560	chr14:32924123-32924124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71419910	chr14:32924135-32924136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12436376	chr14:32924137-32924138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115289362	chr14:32924154-32924155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528645102	chr14:32924162-32924163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540845344	chr14:32924165-32924166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32919200-32926400	Weak transcription	NHDF-Ad	bronchial
2	chr14:32919600-32926800	Weak transcription	Aorta	Aorta
3	chr14:32919800-32926200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:32920800-32926200	Weak transcription	Brain Anterior Caudate	brain
5	chr14:32920800-32926600	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:32920800-32930200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:32921600-32926400	Weak transcription	Brain Substantia Nigra	brain
8	chr14:32921800-32923800	Enhancers	Fetal Lung	lung
9	chr14:32922200-32923800	Enhancers	Colon Smooth Muscle	Colon
10	chr14:32922400-32923800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:32923000-32923800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:32923000-32923800	Enhancers	HepG2	liver
13	chr14:32923200-32923800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:32923200-32923800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:32923200-32923800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:32923200-32923800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:32923200-32923800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr14:32923200-32923800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:32923200-32923800	Enhancers	Right Atrium	heart
20	chr14:32923200-32923800	Enhancers	HMEC	breast
21	chr14:32923200-32923800	Enhancers	NHEK	skin
22	chr14:32923200-32923800	Enhancers	Osteobl	bone
23	chr14:32923400-32923800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:32923400-32923800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:32923400-32923800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:32923400-32923800	Enhancers	Stomach Smooth Muscle	stomach
27	chr14:32923400-32923800	Enhancers	HSMM	muscle
28	chr14:32923600-32923800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:32923600-32923800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:32923600-32923800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:32923600-32923800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:32923600-32923800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:32923600-32923800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:32923600-32923800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:32923600-32923800	Flanking Active TSS	Fetal Heart	heart
36	chr14:32923600-32924400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:32923800-32924000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:32923800-32925000	Weak transcription	Fetal Heart	heart
39	chr14:32923800-32926200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:32923800-32926200	Weak transcription	Fetal Lung	lung
41	chr14:32923800-32926400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:32923800-32926400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:32923800-32926400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:32923800-32926400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:32923800-32926400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:32923800-32926400	Weak transcription	Osteobl	bone
47	chr14:32923800-32927200	Weak transcription	HSMM	muscle
48	chr14:32923800-32927400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:32923800-32927800	Weak transcription	Colon Smooth Muscle	Colon
50	chr14:32923800-32929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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