Variant report

Variant	nsv564563
Chromosome Location	chr14:42477256-42644617
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:20)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:42426488..42427059-chr14:42492434..42493144,2	MCF-7	breast:
2	chr14:42579080..42579654-chr19:13075926..13076721,2	MCF-7	breast:
3	chr14:42541786..42544166-chr14:42592985..42595792,2	K562	blood:
4	chr14:42489469..42492321-chr14:42495641..42497354,2	K562	blood:
5	chr14:42579463..42579970-chr14:43055430..43056355,2	MCF-7	breast:
6	chr14:42579997..42581799-chr14:42607853..42610377,2	MCF-7	breast:
7	chr14:42394414..42395283-chr14:42522975..42523748,2	MCF-7	breast:
8	chr14:42639053..42641369-chr14:42641702..42644557,2	K562	blood:
9	chr12:7416614..7417292-chr14:42518093..42518637,2	MCF-7	breast:
10	chr14:42610518..42612442-chr14:42615721..42617271,2	MCF-7	breast:
11	chr14:42568206..42570155-chr14:42572484..42574161,2	K562	blood:
12	chr14:42489469..42492321-chr14:42495641..42497354,2	K562	blood:
13	chr14:42639053..42641369-chr14:42641702..42644557,2	K562	blood:
14	chr14:42610518..42612442-chr14:42615721..42617271,2	MCF-7	breast:
15	chr14:42600076..42603066-chr14:42611627..42613555,2	MCF-7	breast:
16	chr14:42541786..42544166-chr14:42592985..42595792,2	K562	blood:
17	chr14:42579997..42581799-chr14:42607853..42610377,2	MCF-7	breast:
18	chr14:42394439..42395063-chr14:42579032..42579711,2	MCF-7	breast:
19	chr14:42600076..42603066-chr14:42611627..42613555,2	MCF-7	breast:
20	chr14:42568206..42570155-chr14:42572484..42574161,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-4	chr14:42512800-42513021	XLOC_011005
2	lnc-RP11-214N1.1.1-4	chr14:42636197-42636280	NONHSAT036584
3	lnc-RP11-214N1.1.1-4	chr14:42643642-42643785	NONHSAT036584
4	lnc-FSCB-4	chr14:42541982-42542003	XLOC_011005

No data

Variant related genes	Relation type
ENSG00000179284	chromatin interactions

Extended variants
information (count: 1590 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1590 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28605682	chr14:42480030-42480031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531063983	chr14:42480045-42480046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561837710	chr14:42480058-42480059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373485945	chr14:42480059-42480060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185952477	chr14:42480093-42480094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561497088	chr14:42480143-42480144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28616607	chr14:42480153-42480154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148471745	chr14:42480162-42480163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376318516	chr14:42480203-42480204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546539589	chr14:42480221-42480222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71105415	chr14:42480222-42480223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76801711	chr14:42480223-42480224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547160406	chr14:42480237-42480238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8013328	chr14:42480288-42480289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs532995031	chr14:42480315-42480316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541205471	chr14:42480337-42480338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575195528	chr14:42480360-42480361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569968134	chr14:42480365-42480366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12435950	chr14:42480374-42480375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs8013800	chr14:42480460-42480461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142519687	chr14:42480462-42480463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534505977	chr14:42480473-42480474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115386653	chr14:42480478-42480479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150924369	chr14:42480500-42480501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34369744	chr14:42480575-42480576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79411663	chr14:42480580-42480581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556897183	chr14:42480671-42480672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543808435	chr14:42480697-42480698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564013949	chr14:42480698-42480699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575549865	chr14:42480720-42480721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1684683	chr14:42480747-42480748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs114986875	chr14:42480786-42480787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115535110	chr14:42480812-42480813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545037400	chr14:42480813-42480814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190818194	chr14:42480819-42480820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566985741	chr14:42480851-42480852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76293542	chr14:42480879-42480880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375555547	chr14:42480893-42480894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183868917	chr14:42480912-42480913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563247402	chr14:42480917-42480918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201695096	chr14:42480921-42480922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6572121	chr14:42480923-42480924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550605751	chr14:42480962-42480963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549296739	chr14:42481063-42481064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35523822	chr14:42481072-42481073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567441897	chr14:42481168-42481169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534865685	chr14:42481194-42481195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546343094	chr14:42481236-42481237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140778293	chr14:42481253-42481254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12893733	chr14:42481254-42481255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
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
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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42480000-42484200	Enhancers	Primary B cells from cord blood	blood
2	chr14:42480800-42481400	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:42481400-42484000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:42484000-42484400	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:42484200-42487400	Weak transcription	Primary B cells from cord blood	blood
6	chr14:42487400-42487600	Enhancers	Primary B cells from cord blood	blood
7	chr14:42487600-42488200	Weak transcription	Primary B cells from cord blood	blood
8	chr14:42488200-42491000	Enhancers	Primary B cells from cord blood	blood
9	chr14:42491000-42497200	Weak transcription	Primary B cells from cord blood	blood
10	chr14:42496000-42496800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr14:42496800-42497600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:42497200-42499000	Enhancers	Primary B cells from cord blood	blood
13	chr14:42497600-42497800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:42497800-42498600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:42514600-42515400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:42515400-42516200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr14:42516200-42517000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:42516600-42517400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr14:42516600-42517400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:42516800-42517600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:42517000-42517200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:42526600-42527200	Enhancers	Colon Smooth Muscle	Colon
23	chr14:42527800-42528400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr14:42528000-42528800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:42545200-42546000	Enhancers	Fetal Lung	lung
26	chr14:42564400-42564600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:42565200-42565600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:42579600-42579800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:42579600-42581000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:42579600-42581000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:42579600-42581200	Enhancers	Osteobl	bone
32	chr14:42580200-42582000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:42580400-42581000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:42580400-42581600	Enhancers	HMEC	breast
35	chr14:42580600-42581400	Enhancers	NHEK	skin
36	chr14:42580800-42581000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:42580800-42581800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:42581000-42581200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:42581000-42581200	ZNF genes & repeats	HepG2	liver
40	chr14:42581000-42581600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:42581000-42583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:42581200-42581600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:42581200-42581600	Flanking Active TSS	Osteobl	bone
44	chr14:42581200-42582200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:42581600-42582000	Active TSS	Osteobl	bone
46	chr14:42582200-42582400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:42582400-42583400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr14:42582600-42583200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:42596200-42596600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:42598400-42600200	Enhancers	A549	lung

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