Variant report

Variant	nsv1047999
Chromosome Location	chr14:45173884-45232269
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
2	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
3	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
4	chr14:45231102..45232656-chr14:45234891..45237559,2	MCF-7	breast:
5	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
6	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
7	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
8	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
9	chr14:45227214..45228776-chr14:45264086..45266649,2	MCF-7	breast:
10	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
11	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
12	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
13	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
14	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
15	chr14:45230477..45232616-chr14:45235679..45238276,2	MCF-7	breast:
16	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
17	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
18	chr14:45226640..45228814-chr14:45238544..45240858,2	MCF-7	breast:

No data

Extended variants
information (count: 1253 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1253 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527711336	chr14:45180419-45180420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552899470	chr14:45180440-45180441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571199993	chr14:45180446-45180447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538399872	chr14:45180487-45180488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550399497	chr14:45180507-45180508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374065799	chr14:45180512-45180513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151139799	chr14:45180532-45180533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367916360	chr14:45180561-45180562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553620854	chr14:45180565-45180566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10139486	chr14:45180579-45180580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs811082	chr14:45180588-45180589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187927087	chr14:45180604-45180605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190668133	chr14:45180615-45180616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569583138	chr14:45180623-45180624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76271158	chr14:45180657-45180658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183376308	chr14:45180658-45180659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574807389	chr14:45180665-45180666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187717679	chr14:45180691-45180692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560425891	chr14:45180699-45180700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552234774	chr14:45180721-45180722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527674459	chr14:45180784-45180785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1647534	chr14:45180789-45180790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192484282	chr14:45180797-45180798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532065203	chr14:45180810-45180811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17115421	chr14:45180814-45180815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376912295	chr14:45180897-45180898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372669782	chr14:45180907-45180908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144786777	chr14:45180908-45180909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535698755	chr14:45180933-45180934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200948021	chr14:45181164-45181165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547467086	chr14:45181185-45181186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs8006001	chr14:45181239-45181240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184704898	chr14:45181246-45181247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557336507	chr14:45181253-45181254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62010520	chr14:45181295-45181296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536967822	chr14:45181323-45181324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs811722	chr14:45181337-45181338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150303452	chr14:45181370-45181371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568536180	chr14:45181371-45181372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77593495	chr14:45181383-45181384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537568530	chr14:45181388-45181389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540907152	chr14:45181425-45181426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560591977	chr14:45181440-45181441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557310662	chr14:45181507-45181508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188279853	chr14:45181533-45181534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10717936	chr14:45181564-45181565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138310277	chr14:45181595-45181596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564486940	chr14:45181639-45181640	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs192975151	chr14:45181664-45181665	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114807518	chr14:45181680-45181681	Enhancers Flanking Active TSS	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45180400-45181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:45181000-45181600	Enhancers	Stomach Smooth Muscle	stomach
3	chr14:45181000-45181800	Enhancers	Fetal Kidney	kidney
4	chr14:45181600-45181800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:45181600-45181800	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr14:45181600-45182000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:45181600-45182000	Enhancers	Fetal Muscle Leg	muscle
8	chr14:45181800-45182000	Enhancers	Stomach Smooth Muscle	stomach
9	chr14:45182000-45182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr14:45185400-45185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:45187400-45188000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:45187600-45187800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:45188000-45188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:45188400-45188600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:45188600-45189000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:45189000-45189400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:45189400-45190800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:45190600-45191800	ZNF genes & repeats	Liver	Liver
19	chr14:45198200-45198400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:45199600-45200000	Enhancers	Fetal Intestine Small	intestine
21	chr14:45201200-45201800	Enhancers	Fetal Muscle Leg	muscle
22	chr14:45201600-45202000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr14:45201800-45202000	Enhancers	Fetal Intestine Small	intestine
24	chr14:45202000-45202400	Enhancers	Fetal Lung	lung
25	chr14:45202400-45202800	Weak transcription	Fetal Lung	lung
26	chr14:45202600-45203400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:45202800-45203000	Enhancers	Fetal Lung	lung
28	chr14:45203000-45203800	Weak transcription	Fetal Lung	lung
29	chr14:45203400-45205200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:45203800-45204000	Enhancers	Fetal Lung	lung
31	chr14:45205200-45206200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:45206000-45206200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:45206200-45209200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:45206200-45210200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:45208000-45209400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:45209200-45209400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:45209400-45211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:45210200-45211800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:45210600-45211600	Enhancers	Fetal Lung	lung
40	chr14:45211000-45211600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr14:45211200-45212000	Enhancers	Fetal Stomach	stomach
42	chr14:45211400-45211600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:45211400-45211800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:45211400-45211800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr14:45211600-45212000	Weak transcription	Fetal Lung	lung
46	chr14:45212000-45212600	Enhancers	Fetal Lung	lung
47	chr14:45212000-45214400	Weak transcription	Fetal Stomach	stomach
48	chr14:45213800-45215200	Enhancers	Placenta	Placenta
49	chr14:45214400-45214600	ZNF genes & repeats	Fetal Stomach	stomach
50	chr14:45221600-45221800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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