Variant report

Variant	nsv1047319
Chromosome Location	chr14:45182148-45223701
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
2	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
3	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
4	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
5	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
6	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
7	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
8	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
9	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
10	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:

No data

Extended variants
information (count: 853 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:853 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6572276	chr14:45182148-45182149	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369924158	chr14:45182153-45182154	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546475696	chr14:45182166-45182167	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553346602	chr14:45182186-45182187	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573210650	chr14:45182193-45182194	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183796063	chr14:45185407-45185408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532038580	chr14:45185436-45185437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369784266	chr14:45185539-45185540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142489559	chr14:45185540-45185541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73337392	chr14:45185557-45185558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559896274	chr14:45185563-45185564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1345979	chr14:45187408-45187409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552934221	chr14:45187416-45187417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371177315	chr14:45187454-45187455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571012088	chr14:45187480-45187481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538098550	chr14:45187523-45187524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549846506	chr14:45187548-45187549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568066808	chr14:45187558-45187559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190252960	chr14:45187598-45187599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553366652	chr14:45187727-45187728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143101920	chr14:45187744-45187745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113862038	chr14:45187766-45187767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565610789	chr14:45187838-45187839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575539685	chr14:45187847-45187848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374870416	chr14:45187851-45187852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538020218	chr14:45187875-45187876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557663427	chr14:45187878-45187879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367818081	chr14:45187880-45187881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558352194	chr14:45187881-45187882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576174142	chr14:45187900-45187901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543296874	chr14:45187918-45187919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576842214	chr14:45187937-45187938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181498442	chr14:45187950-45187951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73337396	chr14:45187959-45187960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542219315	chr14:45187963-45187964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560485632	chr14:45187989-45187990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375103830	chr14:45188039-45188040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527723305	chr14:45188040-45188041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546511596	chr14:45188116-45188117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564674024	chr14:45188136-45188137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376909532	chr14:45188169-45188170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550116593	chr14:45188170-45188171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369083802	chr14:45188187-45188188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs877487	chr14:45188199-45188200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186926524	chr14:45188223-45188224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547118371	chr14:45188224-45188225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565319411	chr14:45188226-45188227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116765215	chr14:45188238-45188239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558026931	chr14:45188247-45188248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77392152	chr14:45188264-45188265	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45182000-45182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr14:45185400-45185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:45187400-45188000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:45187600-45187800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:45188000-45188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:45188400-45188600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:45188600-45189000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:45189000-45189400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:45189400-45190800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:45190600-45191800	ZNF genes & repeats	Liver	Liver
11	chr14:45198200-45198400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:45199600-45200000	Enhancers	Fetal Intestine Small	intestine
13	chr14:45201200-45201800	Enhancers	Fetal Muscle Leg	muscle
14	chr14:45201600-45202000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:45201800-45202000	Enhancers	Fetal Intestine Small	intestine
16	chr14:45202000-45202400	Enhancers	Fetal Lung	lung
17	chr14:45202400-45202800	Weak transcription	Fetal Lung	lung
18	chr14:45202600-45203400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:45202800-45203000	Enhancers	Fetal Lung	lung
20	chr14:45203000-45203800	Weak transcription	Fetal Lung	lung
21	chr14:45203400-45205200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:45203800-45204000	Enhancers	Fetal Lung	lung
23	chr14:45205200-45206200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:45206000-45206200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:45206200-45209200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:45206200-45210200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:45208000-45209400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:45209200-45209400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:45209400-45211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:45210200-45211800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:45210600-45211600	Enhancers	Fetal Lung	lung
32	chr14:45211000-45211600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:45211200-45212000	Enhancers	Fetal Stomach	stomach
34	chr14:45211400-45211600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:45211400-45211800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:45211400-45211800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr14:45211600-45212000	Weak transcription	Fetal Lung	lung
38	chr14:45212000-45212600	Enhancers	Fetal Lung	lung
39	chr14:45212000-45214400	Weak transcription	Fetal Stomach	stomach
40	chr14:45213800-45215200	Enhancers	Placenta	Placenta
41	chr14:45214400-45214600	ZNF genes & repeats	Fetal Stomach	stomach
42	chr14:45221600-45221800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:45221600-45221800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:45221600-45221800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:45221600-45221800	Active TSS	Fetal Muscle Trunk	muscle
46	chr14:45221600-45221800	Enhancers	HMEC	breast
47	chr14:45222200-45222400	Enhancers	Fetal Intestine Small	intestine
48	chr14:45222400-45225800	Weak transcription	Fetal Intestine Small	intestine
49	chr14:45222800-45223800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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