Variant report

Variant	nsv564705
Chromosome Location	chr14:45170946-45213133
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
2	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
3	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
4	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:
5	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
6	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
7	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
8	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:

No data

Extended variants
information (count: 759 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7161522	chr14:45170946-45170947	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573823669	chr14:45170954-45170955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7143856	chr14:45170993-45170994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553025830	chr14:45171005-45171006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185590544	chr14:45171011-45171012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570257860	chr14:45171055-45171056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544921480	chr14:45171083-45171084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75105077	chr14:45171127-45171128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576621397	chr14:45171137-45171138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117152840	chr14:45171169-45171170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4906559	chr14:45171198-45171199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1345980	chr14:45171199-45171200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548057631	chr14:45171205-45171206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180705717	chr14:45171216-45171217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185910000	chr14:45171220-45171221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192487974	chr14:45171242-45171243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78154509	chr14:45171312-45171313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17551760	chr14:45171345-45171346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537013771	chr14:45171348-45171349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569363690	chr14:45171351-45171352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140915772	chr14:45171363-45171364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527711336	chr14:45180419-45180420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552899470	chr14:45180440-45180441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571199993	chr14:45180446-45180447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538399872	chr14:45180487-45180488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550399497	chr14:45180507-45180508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374065799	chr14:45180512-45180513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151139799	chr14:45180532-45180533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367916360	chr14:45180561-45180562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553620854	chr14:45180565-45180566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10139486	chr14:45180579-45180580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs811082	chr14:45180588-45180589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187927087	chr14:45180604-45180605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190668133	chr14:45180615-45180616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569583138	chr14:45180623-45180624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76271158	chr14:45180657-45180658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183376308	chr14:45180658-45180659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574807389	chr14:45180665-45180666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187717679	chr14:45180691-45180692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560425891	chr14:45180699-45180700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552234774	chr14:45180721-45180722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527674459	chr14:45180784-45180785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1647534	chr14:45180789-45180790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192484282	chr14:45180797-45180798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532065203	chr14:45180810-45180811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17115421	chr14:45180814-45180815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376912295	chr14:45180897-45180898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372669782	chr14:45180907-45180908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144786777	chr14:45180908-45180909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535698755	chr14:45180933-45180934	Weak transcription	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
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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45168800-45171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:45170800-45171200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:45170800-45171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:45171000-45171200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:45180400-45181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:45181000-45181600	Enhancers	Stomach Smooth Muscle	stomach
7	chr14:45181000-45181800	Enhancers	Fetal Kidney	kidney
8	chr14:45181600-45181800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:45181600-45181800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr14:45181600-45182000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:45181600-45182000	Enhancers	Fetal Muscle Leg	muscle
12	chr14:45181800-45182000	Enhancers	Stomach Smooth Muscle	stomach
13	chr14:45182000-45182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr14:45185400-45185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:45187400-45188000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:45187600-45187800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:45188000-45188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:45188400-45188600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:45188600-45189000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:45189000-45189400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:45189400-45190800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:45190600-45191800	ZNF genes & repeats	Liver	Liver
23	chr14:45198200-45198400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:45199600-45200000	Enhancers	Fetal Intestine Small	intestine
25	chr14:45201200-45201800	Enhancers	Fetal Muscle Leg	muscle
26	chr14:45201600-45202000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:45201800-45202000	Enhancers	Fetal Intestine Small	intestine
28	chr14:45202000-45202400	Enhancers	Fetal Lung	lung
29	chr14:45202400-45202800	Weak transcription	Fetal Lung	lung
30	chr14:45202600-45203400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:45202800-45203000	Enhancers	Fetal Lung	lung
32	chr14:45203000-45203800	Weak transcription	Fetal Lung	lung
33	chr14:45203400-45205200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:45203800-45204000	Enhancers	Fetal Lung	lung
35	chr14:45205200-45206200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:45206000-45206200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:45206200-45209200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:45206200-45210200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:45208000-45209400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:45209200-45209400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:45209400-45211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:45210200-45211800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:45210600-45211600	Enhancers	Fetal Lung	lung
44	chr14:45211000-45211600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr14:45211200-45212000	Enhancers	Fetal Stomach	stomach
46	chr14:45211400-45211600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:45211400-45211800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:45211400-45211800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr14:45211600-45212000	Weak transcription	Fetal Lung	lung
50	chr14:45212000-45212600	Enhancers	Fetal Lung	lung

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