Variant report

Variant	nsv1048854
Chromosome Location	chr14:37505438-37546359
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37415215..37416720-chr14:37538798..37540996,2	K562	blood:
2	chr14:37538918..37541164-chr14:37542653..37544836,2	K562	blood:
3	chr14:37527584..37529968-chr14:37590390..37592949,2	MCF-7	breast:
4	chr14:37508396..37513083-chr14:37513414..37517203,5	MCF-7	breast:
5	chr14:37513736..37515871-chr14:37516258..37519151,2	K562	blood:
6	chr14:37543104..37544844-chr14:37552130..37554512,2	MCF-7	breast:
7	chr14:37500537..37502726-chr14:37509815..37512443,2	K562	blood:
8	chr14:37535319..37537304-chr14:37555545..37557530,2	K562	blood:
9	chr14:37542425..37544923-chr14:37546553..37548254,2	K562	blood:
10	chr14:37517069..37519596-chr14:37522769..37524947,2	K562	blood:
11	chr14:37498607..37500171-chr14:37503819..37505728,2	MCF-7	breast:
12	chr14:37528200..37530680-chr14:37600178..37602513,2	K562	blood:
13	chr14:37508396..37513083-chr14:37513414..37517203,5	MCF-7	breast:
14	chr14:37499430..37501111-chr14:37506004..37508252,2	K562	blood:
15	chr14:37517069..37519596-chr14:37522769..37524947,2	K562	blood:
16	chr14:37538918..37541164-chr14:37542653..37544836,2	K562	blood:
17	chr14:37513736..37515871-chr14:37516258..37519151,2	K562	blood:

No data

Extended variants
information (count: 1478 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1478 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563008071	chr14:37505476-37505477	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs532007699	chr14:37505477-37505478	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs35696805	chr14:37505627-37505628	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs141348133	chr14:37505637-37505638	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565467879	chr14:37505644-37505645	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs187811697	chr14:37505655-37505656	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs199830406	chr14:37505656-37505657	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs576801996	chr14:37505680-37505681	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs117007342	chr14:37505779-37505780	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567671445	chr14:37505786-37505787	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530007840	chr14:37505805-37505806	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192889590	chr14:37505831-37505832	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550132014	chr14:37505832-37505833	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184950127	chr14:37505854-37505855	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs66567173	chr14:37505879-37505880	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369342395	chr14:37505882-37505883	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572442520	chr14:37505989-37505990	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188572657	chr14:37506018-37506019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574564655	chr14:37506021-37506022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8005022	chr14:37506115-37506116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs571069970	chr14:37506120-37506121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561054528	chr14:37506126-37506127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533646536	chr14:37506182-37506183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553425500	chr14:37506216-37506217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192293417	chr14:37506257-37506258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144930345	chr14:37506322-37506323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184770904	chr14:37506343-37506344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576702181	chr14:37506370-37506371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189546035	chr14:37506375-37506376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180707423	chr14:37506388-37506389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs8004339	chr14:37506456-37506457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs114622827	chr14:37506492-37506493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111456121	chr14:37506596-37506597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530188196	chr14:37506614-37506615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549954482	chr14:37506645-37506646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74045265	chr14:37506647-37506648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1467493	chr14:37506655-37506656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1467492	chr14:37506672-37506673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183753614	chr14:37506713-37506714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1467491	chr14:37506721-37506722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149038872	chr14:37506739-37506740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143042529	chr14:37506769-37506770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199880021	chr14:37506790-37506791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs33911930	chr14:37506796-37506797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115840259	chr14:37506797-37506798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397852759	chr14:37506802-37506803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58496598	chr14:37506818-37506819	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs58096842	chr14:37506855-37506856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs78766788	chr14:37506872-37506873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1467490	chr14:37506899-37506900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Cancer	20164919	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37503600-37506200	Enhancers	HSMMtube	muscle
2	chr14:37503600-37506200	Enhancers	NH-A	brain
3	chr14:37503600-37506400	Enhancers	Osteobl	bone
4	chr14:37503600-37507000	Enhancers	HUVEC	blood vessel
5	chr14:37503800-37505800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:37503800-37506400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:37503800-37506400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:37503800-37506400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:37503800-37506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:37503800-37506600	Enhancers	HSMM	muscle
11	chr14:37503800-37507400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:37503800-37507600	Enhancers	NHDF-Ad	bronchial
13	chr14:37504000-37507600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr14:37504400-37506000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:37504400-37506200	Enhancers	NHEK	skin
16	chr14:37504600-37505600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:37504600-37508200	Enhancers	HepG2	liver
18	chr14:37504800-37506200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:37504800-37507400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:37504800-37508400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr14:37505000-37506000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:37505000-37506000	Weak transcription	Hela-S3	cervix
23	chr14:37505000-37507000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:37505000-37507000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr14:37505200-37507600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr14:37505200-37507600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:37505200-37509000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr14:37505400-37505800	Enhancers	NHLF	lung
29	chr14:37505400-37506000	Active TSS	Aorta	Aorta
30	chr14:37505400-37507000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:37505400-37507400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr14:37505600-37506600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:37505600-37507400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:37506000-37506600	Enhancers	A549	lung
35	chr14:37506000-37506600	Enhancers	Hela-S3	cervix
36	chr14:37506000-37507200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr14:37506000-37507400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:37506000-37507600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:37506200-37507600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:37507200-37507600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:37507200-37508000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:37507400-37507800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:37507600-37508600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:37507800-37508400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:37508000-37508400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr14:37508200-37508400	Bivalent Enhancer	HepG2	liver
47	chr14:37508600-37509000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:37509000-37510200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:37510200-37510600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:37510600-37514000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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