Variant report

Variant	nsv564348
Chromosome Location	chr14:37584981-37608459
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	chr14:37578874..37583867-chr14:37583944..37587801,9	MCF-7	breast:
2	chr14:37595328..37597132-chr14:37600634..37602952,2	K562	blood:
3	chr14:37579586..37581126-chr14:37583295..37585888,2	K562	blood:
4	chr14:37593584..37594175-chr14:37619119..37620412,3	MCF-7	breast:
5	chr14:37116948..37117690-chr14:37591347..37592244,2	MCF-7	breast:
6	chr14:37443180..37446784-chr14:37583565..37587987,4	MCF-7	breast:
7	chr14:37527584..37529968-chr14:37590390..37592949,2	MCF-7	breast:
8	chr14:37492863..37493768-chr14:37586781..37587332,2	MCF-7	breast:
9	chr14:37591458..37594181-chr14:37641204..37642829,2	MCF-7	breast:
10	chr14:37595811..37599038-chr14:37602068..37604327,3	MCF-7	breast:
11	chr14:37595328..37597132-chr14:37600634..37602952,2	K562	blood:
12	chr14:37411236..37411778-chr14:37586529..37587352,2	MCF-7	breast:
13	chr14:37608441..37610002-chr14:37610883..37613279,2	K562	blood:
14	chr14:37587663..37589305-chr14:37591557..37593848,2	MCF-7	breast:
15	chr14:37593615..37596516-chr14:37600074..37602839,3	K562	blood:
16	chr14:37580174..37584845-chr14:37588606..37592760,5	MCF-7	breast:
17	chr14:37595811..37599038-chr14:37602068..37604327,3	MCF-7	breast:
18	chr14:37593615..37596516-chr14:37600074..37602839,3	K562	blood:
19	chr14:37528200..37530680-chr14:37600178..37602513,2	K562	blood:
20	chr14:36918851..36919626-chr14:37586517..37587298,2	MCF-7	breast:
21	chr14:37587663..37589305-chr14:37591557..37593848,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183032	chromatin interactions

Extended variants
information (count: 848 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17106347	chr14:37584981-37584982	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578042867	chr14:37585151-37585152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568609038	chr14:37585169-37585170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544249652	chr14:37585176-37585177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544851416	chr14:37585236-37585237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145024238	chr14:37585245-37585246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533145782	chr14:37585273-37585274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545725677	chr14:37585335-37585336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553532007	chr14:37585405-37585406	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559574745	chr14:37585411-37585412	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374767925	chr14:37585487-37585488	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542530715	chr14:37585495-37585496	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368818934	chr14:37585547-37585548	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs74885256	chr14:37585551-37585552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs561209001	chr14:37585572-37585573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs528670552	chr14:37585594-37585595	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12100470	chr14:37585642-37585643	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187024924	chr14:37585661-37585662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530677984	chr14:37585669-37585670	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557671091	chr14:37585670-37585671	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs138812192	chr14:37585783-37585784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs543394327	chr14:37585808-37585809	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570499646	chr14:37585816-37585817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs539422630	chr14:37585818-37585819	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs546593187	chr14:37585834-37585835	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs567167814	chr14:37585835-37585836	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535732318	chr14:37585879-37585880	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191915423	chr14:37585899-37585900	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs575743632	chr14:37585933-37585934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142251020	chr14:37585977-37585978	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557812852	chr14:37585987-37585988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577643153	chr14:37586011-37586012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540252775	chr14:37586048-37586049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs560248426	chr14:37586148-37586149	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573095794	chr14:37586158-37586159	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576046360	chr14:37586164-37586165	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184320614	chr14:37586270-37586271	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs117719050	chr14:37586349-37586350	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs1955756	chr14:37586381-37586382	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550725518	chr14:37586393-37586394	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs199635978	chr14:37586414-37586415	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs79165023	chr14:37586444-37586445	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs540380637	chr14:37586453-37586454	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs34264976	chr14:37586459-37586460	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78388921	chr14:37586461-37586462	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs558137755	chr14:37586500-37586501	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369692963	chr14:37586518-37586519	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112664606	chr14:37586552-37586553	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs527858721	chr14:37586761-37586762	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs373571202	chr14:37586790-37586791	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37582400-37585400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr14:37582400-37587600	Enhancers	Hela-S3	cervix
3	chr14:37582400-37602800	Weak transcription	K562	blood
4	chr14:37583200-37585400	Weak transcription	Aorta	Aorta
5	chr14:37583400-37586200	Weak transcription	HSMMtube	muscle
6	chr14:37583800-37585600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:37583800-37586400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:37584000-37585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:37584200-37585000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:37584200-37585400	Weak transcription	A549	lung
11	chr14:37584400-37585000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:37584400-37585400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:37584400-37585600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:37584800-37585600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:37585000-37586400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:37585000-37586400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:37585400-37585600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:37585400-37585600	Enhancers	Aorta	Aorta
19	chr14:37585400-37585800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:37585400-37585800	Enhancers	A549	lung
21	chr14:37585400-37586200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:37585400-37586200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr14:37585400-37586400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:37585400-37587000	Enhancers	HUVEC	blood vessel
25	chr14:37585600-37586200	Weak transcription	Aorta	Aorta
26	chr14:37585600-37587000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:37585800-37586200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:37585800-37586800	Flanking Active TSS	A549	lung
29	chr14:37585800-37587000	Enhancers	HMEC	breast
30	chr14:37585800-37587000	Enhancers	NH-A	brain
31	chr14:37586000-37586800	Enhancers	Osteobl	bone
32	chr14:37586000-37587000	Enhancers	NHEK	skin
33	chr14:37586200-37586400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr14:37586200-37586400	Enhancers	Aorta	Aorta
35	chr14:37586200-37586800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr14:37586200-37587000	Enhancers	HSMMtube	muscle
37	chr14:37586200-37591000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:37586400-37586600	Enhancers	HSMM	muscle
39	chr14:37586400-37586800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:37586400-37586800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:37586400-37586800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:37586400-37586800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr14:37586400-37587000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:37586400-37587000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr14:37586400-37587000	Active TSS	Aorta	Aorta
46	chr14:37586400-37588000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr14:37586600-37587000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr14:37586600-37587400	Weak transcription	HSMM	muscle
49	chr14:37586800-37587000	Enhancers	A549	lung
50	chr14:37586800-37587200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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