Variant report

Variant	nsv1039879
Chromosome Location	chr14:45131989-45244622
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:27)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45230477..45232616-chr14:45235679..45238276,2	MCF-7	breast:
2	chr14:45234847..45238441-chr14:45239619..45243336,5	MCF-7	breast:
3	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
4	chr14:45226640..45228814-chr14:45238544..45240858,2	MCF-7	breast:
5	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:
6	chr14:45231102..45232656-chr14:45234891..45237559,2	MCF-7	breast:
7	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
8	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
9	chr14:45230477..45232616-chr14:45235679..45238276,2	MCF-7	breast:
10	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
11	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
12	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
13	chr14:45239191..45241176-chr14:45269826..45272768,2	MCF-7	breast:
14	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
15	chr14:45235346..45237899-chr17:57923729..57925235,2	MCF-7	breast:
16	chr14:45231102..45232656-chr14:45234891..45237559,2	MCF-7	breast:
17	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
18	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
19	chr14:45227214..45228776-chr14:45264086..45266649,2	MCF-7	breast:
20	chr14:45240732..45243141-chr14:45252414..45254832,3	MCF-7	breast:
21	chr14:45226640..45228814-chr14:45238544..45240858,2	MCF-7	breast:
22	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
23	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
24	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
25	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
26	chr14:45234847..45238441-chr14:45239619..45243336,5	MCF-7	breast:
27	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL28-3	chr14:45237198-45237334	XLOC_011008
2	lnc-KLHL28-3	chr14:45235422-45235537	XLOC_011008
3	lnc-KLHL28-3	chr14:45237198-45237332	XLOC_011008
4	lnc-KLHL28-3	chr14:45235422-45235537	XLOC_011008
5	lnc-KLHL28-3	chr14:45234697-45234838	XLOC_011008
6	lnc-KLHL28-3	chr14:45234277-45234304	XLOC_011008
7	lnc-KLHL28-3	chr14:45232360-45234829	ENSG00000258998
8	lnc-KLHL28-3	chr14:45237198-45237332	ENSG00000258998
9	lnc-KLHL28-3	chr14:45234599-45234838	XLOC_011008
10	lnc-KLHL28-3	chr14:45235514-45235537	ENSG00000258998

No data

Variant related genes	Relation type
ENSG00000201524	chromatin interactions
SMAD1	miRNA target sites
SMAD2	miRNA target sites

Extended variants
information (count: 2008 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2008 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17115403	chr14:45131989-45131990	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532652909	chr14:45132024-45132025	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs180730704	chr14:45132041-45132042	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540968102	chr14:45132053-45132054	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115875227	chr14:45132095-45132096	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184714727	chr14:45132096-45132097	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs117163091	chr14:45132173-45132174	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559799318	chr14:45132180-45132181	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562265697	chr14:45132185-45132186	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs139519530	chr14:45132198-45132199	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547792683	chr14:45132346-45132347	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145136084	chr14:45132396-45132397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs528751338	chr14:45132400-45132401	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs74884675	chr14:45132447-45132448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147561092	chr14:45132458-45132459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568544642	chr14:45132465-45132466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531175324	chr14:45132481-45132482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538057506	chr14:45132550-45132551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551045749	chr14:45132553-45132554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569381241	chr14:45132580-45132581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114216166	chr14:45132582-45132583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554661475	chr14:45132584-45132585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79903465	chr14:45132636-45132637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369281103	chr14:45132656-45132657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534210265	chr14:45132658-45132659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559217558	chr14:45132661-45132662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548062808	chr14:45132682-45132683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558310636	chr14:45132683-45132684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555364674	chr14:45132684-45132685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576996522	chr14:45132696-45132697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544405051	chr14:45132716-45132717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375604157	chr14:45132762-45132763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574187093	chr14:45132763-45132764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144908506	chr14:45132775-45132776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559872724	chr14:45132832-45132833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80281329	chr14:45132862-45132863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145878891	chr14:45132863-45132864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149012687	chr14:45132914-45132915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373472948	chr14:45132954-45132955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531490568	chr14:45132956-45132957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549989797	chr14:45132961-45132962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188507187	chr14:45132978-45132979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568306524	chr14:45133025-45133026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536720850	chr14:45133042-45133043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143745258	chr14:45133050-45133051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548696287	chr14:45133087-45133088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372005127	chr14:45133106-45133107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74472713	chr14:45133114-45133115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189159824	chr14:45133175-45133176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558938890	chr14:45133230-45133231	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45131200-45132000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr14:45131200-45132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:45131400-45132400	Enhancers	Fetal Intestine Small	intestine
4	chr14:45131400-45132600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:45131400-45133200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:45131600-45132000	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr14:45131600-45132000	Flanking Active TSS	Liver	Liver
8	chr14:45131600-45132200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:45131600-45132200	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr14:45131600-45132200	Enhancers	Dnd41	blood
11	chr14:45131600-45132400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr14:45131600-45132800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:45131600-45133000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:45131600-45133000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:45131600-45133600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:45131600-45133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:45131800-45132800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:45132000-45132200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr14:45132000-45132200	Enhancers	Liver	Liver
20	chr14:45132000-45132400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr14:45132200-45132400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr14:45132200-45132400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:45132400-45132600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:45132800-45133200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:45132800-45133600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:45137000-45137400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:45142400-45143600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:45168600-45168800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:45168600-45168800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:45168800-45170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:45168800-45171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:45169000-45169400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:45169200-45170000	Enhancers	Fetal Heart	heart
34	chr14:45169600-45170600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:45169800-45170800	Enhancers	NH-A	brain
36	chr14:45170800-45171200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:45170800-45171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:45171000-45171200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:45180400-45181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:45181000-45181600	Enhancers	Stomach Smooth Muscle	stomach
41	chr14:45181000-45181800	Enhancers	Fetal Kidney	kidney
42	chr14:45181600-45181800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:45181600-45181800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr14:45181600-45182000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:45181600-45182000	Enhancers	Fetal Muscle Leg	muscle
46	chr14:45181800-45182000	Enhancers	Stomach Smooth Muscle	stomach
47	chr14:45182000-45182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr14:45185400-45185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:45187400-45188000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:45187600-45187800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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