Variant report

Variant	esv2759988
Chromosome Location	chr14:46050874-46120738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:46079191..46080200-chr14:46279301..46280311,3	MCF-7	breast:
2	chr14:46090382..46092001-chr17:58682515..58685367,2	MCF-7	breast:
3	chr14:46038732..46040536-chr14:46054530..46057374,2	K562	blood:
4	chr14:46119850..46120526-chr14:46279646..46280307,2	MCF-7	breast:

Extended variants
information (count: 1037 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185956549	chr14:46055404-46055405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567443744	chr14:46055408-46055409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190368624	chr14:46055410-46055411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528387686	chr14:46055412-46055413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553861694	chr14:46055422-46055423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183041639	chr14:46055544-46055545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148285806	chr14:46055598-46055599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141352927	chr14:46055599-46055600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116454911	chr14:46055610-46055611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576932187	chr14:46055611-46055612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147394481	chr14:46055620-46055621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545979577	chr14:46055704-46055705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568598394	chr14:46055714-46055715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139680172	chr14:46055730-46055731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574348257	chr14:46055813-46055814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537541664	chr14:46055842-46055843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551234652	chr14:46055966-46055967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535359572	chr14:46055989-46055990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553729599	chr14:46056001-46056002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578057356	chr14:46056027-46056028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188071982	chr14:46056030-46056031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145103042	chr14:46056050-46056051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575705331	chr14:46056075-46056076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571014252	chr14:46056083-46056084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368178430	chr14:46056088-46056089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28399153	chr14:46056112-46056113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72674978	chr14:46056150-46056151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528299713	chr14:46056202-46056203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192509784	chr14:46056209-46056210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182800063	chr14:46056227-46056228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377231055	chr14:46056240-46056241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558604000	chr14:46056255-46056256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188018637	chr14:46056291-46056292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550552528	chr14:46056320-46056321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572148937	chr14:46056324-46056325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147173703	chr14:46056361-46056362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536361960	chr14:46056392-46056393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192440817	chr14:46056402-46056403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541064754	chr14:46056418-46056419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549282120	chr14:46056449-46056450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184790043	chr14:46056514-46056515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189126439	chr14:46056530-46056531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553691159	chr14:46056548-46056549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75174593	chr14:46056550-46056551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572021784	chr14:46056599-46056600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561629541	chr14:46056606-46056607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74044190	chr14:46056627-46056628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557341738	chr14:46056709-46056710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193022375	chr14:46056710-46056711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554526157	chr14:46056751-46056752	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46055400-46057200	Enhancers	Rectal Smooth Muscle	rectum
2	chr14:46056000-46056600	Enhancers	Stomach Smooth Muscle	stomach
3	chr14:46079400-46080000	Enhancers	Rectal Smooth Muscle	rectum
4	chr14:46079800-46080800	Enhancers	Colon Smooth Muscle	Colon
5	chr14:46080000-46083600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:46080200-46080600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:46080600-46081000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:46081000-46081800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:46083600-46083800	Enhancers	Rectal Smooth Muscle	rectum
10	chr14:46092200-46094600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:46092400-46094200	Enhancers	Brain Germinal Matrix	brain
12	chr14:46092800-46094200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:46094000-46095400	Enhancers	Fetal Heart	heart
14	chr14:46095400-46096000	Active TSS	Colon Smooth Muscle	Colon
15	chr14:46095400-46096400	Flanking Active TSS	Fetal Heart	heart
16	chr14:46097800-46101800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:46101600-46102600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:46101800-46102000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:46101800-46102400	Enhancers	NHEK	skin
20	chr14:46101800-46102600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:46101800-46102600	Enhancers	HMEC	breast
22	chr14:46101800-46103600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:46102400-46103400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:46102400-46103400	Flanking Active TSS	NHEK	skin
25	chr14:46102600-46103000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:46102600-46103200	Flanking Active TSS	HMEC	breast
27	chr14:46102600-46103600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:46102600-46103600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr14:46102800-46103200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:46102800-46105200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:46103000-46104000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:46103200-46103400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:46103200-46104000	Enhancers	HMEC	breast
34	chr14:46103400-46103600	Enhancers	NHEK	skin
35	chr14:46103400-46104200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:46103600-46103800	Enhancers	HSMM	muscle
37	chr14:46103600-46105800	Weak transcription	NHEK	skin
38	chr14:46103800-46104000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:46104000-46104800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:46104200-46105800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:46105800-46106000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:46105800-46106800	Enhancers	NHEK	skin
43	chr14:46105800-46107000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:46106000-46106400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:46106000-46106400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:46106400-46106600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:46106400-46106800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:46106400-46106800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:46106400-46106800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:46106600-46110600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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