Variant report

Variant	nsv901957
Chromosome Location	chr14:55819219-55853724
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:52)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:55839764..55841295-chr14:55849699..55852190,2	MCF-7	breast:
2	chr14:55842441..55844954-chr14:55847953..55850798,4	K562	blood:
3	chr14:55838023..55840863-chr14:55842688..55845162,2	K562	blood:
4	chr14:55851395..55854155-chr14:55863478..55865665,2	MCF-7	breast:
5	chr14:55845918..55850716-chr14:55877074..55879382,5	K562	blood:
6	chr14:55823892..55826628-chr14:55877338..55879370,2	MCF-7	breast:
7	chr14:55828992..55831981-chr14:55837033..55839790,2	MCF-7	breast:
8	chr14:55838023..55840863-chr14:55842688..55845162,2	K562	blood:
9	chr14:55812369..55814760-chr14:55818097..55821866,3	MCF-7	breast:
10	chr14:55811214..55813889-chr14:55823159..55825575,2	MCF-7	breast:
11	chr14:55851134..55854346-chr14:55857455..55859971,3	K562	blood:
12	chr14:55817121..55819281-chr14:55819678..55821286,2	MCF-7	breast:
13	chr14:55813775..55816746-chr14:55819381..55821287,2	MCF-7	breast:
14	chr14:55832090..55833883-chr14:55878712..55880700,2	MCF-7	breast:
15	chr14:55839764..55841295-chr14:55849699..55852190,2	MCF-7	breast:
16	chr14:55827842..55829684-chr14:55847193..55849641,2	MCF-7	breast:
17	chr14:55697987..55700374-chr14:55851952..55854394,2	K562	blood:
18	chr14:55737146..55740453-chr14:55819969..55824723,7	MCF-7	breast:
19	chr14:55831903..55834657-chr14:55852806..55855439,2	MCF-7	breast:
20	chr14:55737428..55739982-chr14:55820352..55823007,3	K562	blood:
21	chr14:55836452..55838141-chr14:55877105..55879990,2	MCF-7	breast:
22	chr14:55834865..55836765-chr14:55837611..55840603,2	MCF-7	breast:
23	chr14:55766047..55767790-chr14:55821223..55823323,2	MCF-7	breast:
24	chr14:55736450..55738716-chr14:55817481..55820238,2	K562	blood:
25	chr14:55736773..55740408-chr14:55819454..55822170,5	MCF-7	breast:
26	chr14:55741219..55743724-chr14:55842987..55845044,2	K562	blood:
27	chr14:55828992..55831981-chr14:55837033..55839790,2	MCF-7	breast:
28	chr14:55827842..55829684-chr14:55847193..55849641,2	MCF-7	breast:
29	chr14:55737506..55738720-chr14:55820321..55822020,12	MCF-7	breast:
30	chr14:55679455..55680007-chr14:55821048..55821633,3	K562	blood:
31	chr14:55834865..55836765-chr14:55837611..55840603,2	MCF-7	breast:
32	chr14:55737789..55738706-chr14:55821094..55822088,2	MCF-7	breast:
33	chr14:55737488..55738478-chr14:55820977..55822074,28	MCF-7	breast:
34	chr14:55831903..55834657-chr14:55852806..55855439,2	MCF-7	breast:
35	chr14:55851517..55854050-chr14:55862955..55864558,2	K562	blood:
36	chr14:55737620..55738471-chr14:55821039..55821977,3	K562	blood:
37	chr14:55737565..55739457-chr14:55849984..55852206,2	K562	blood:
38	chr14:55832794..55835676-chr14:55852395..55854057,2	K562	blood:
39	chr14:55832794..55835676-chr14:55852395..55854057,2	K562	blood:
40	chr14:55820434..55823262-chr14:55823747..55828312,4	K562	blood:
41	chr14:55842441..55844954-chr14:55847953..55850798,4	K562	blood:
42	chr14:55727647..55729391-chr14:55818839..55821445,2	MCF-7	breast:
43	chr14:55820434..55823262-chr14:55823747..55828312,4	K562	blood:
44	chr14:55809381..55811401-chr14:55819564..55823074,3	MCF-7	breast:
45	chr14:55764219..55765273-chr14:55820714..55821903,4	MCF-7	breast:
46	chr14:55712140..55713012-chr14:55821024..55821977,2	MCF-7	breast:
47	chr14:55737683..55738577-chr14:55820987..55821926,2	MCF-7	breast:
48	chr14:55824095..55826135-chr14:55826447..55829261,2	MCF-7	breast:
49	chr14:55851233..55853002-chr14:55877358..55880266,2	MCF-7	breast:
50	chr14:55737565..55739561-chr14:55849984..55852206,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS3-2	chr14:55821219-55821303	NONHSAT036997
2	lnc-LGALS3-2	chr14:55821782-55821802	NONHSAT036997

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	FBXO34	hsa-miR-181a-5p	chr14:55820031-55820053
2	KIAA0831	hsa-miR-103a-3p	chr14:55835760-55835783
3	FBXO34	hsa-miR-181a-5p	chr14:55820052-55820075
4	ATG14	hsa-miR-16-5p	chr14:55833583-55833577
5	FBXO34	hsa-miR-181a-5p	chr14:55820073-55820097
6	FBXO34	hsa-miR-181a-5p	chr14:55820068-55820074
7	KIAA0831	hsa-miR-16-5p	chr14:55833577-55833596
8	ATG14	hsa-miR-16-5p	chr14:55835765-55835759
9	FBXO34	hsa-miR-181a-5p	chr14:55820090-55820096
10	KIAA0831	hsa-miR-16-5p	chr14:55835759-55835781

Variant related genes	Relation type
ENSG00000126775	chromatin interactions
ENSG00000258413	chromatin interactions
ENSG00000178974	chromatin interactions

Extended variants
information (count: 1551 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1551 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10138395	chr14:55819219-55819220	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148730342	chr14:55819232-55819233	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371099912	chr14:55819257-55819258	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs374114341	chr14:55819272-55819273	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138667502	chr14:55819273-55819274	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189204235	chr14:55819305-55819306	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114576128	chr14:55819318-55819319	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142724770	chr14:55819339-55819340	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552238438	chr14:55819354-55819355	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192116680	chr14:55819372-55819373	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369569876	chr14:55819445-55819446	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559347198	chr14:55819457-55819458	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574828518	chr14:55819482-55819483	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541846051	chr14:55819484-55819485	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563300843	chr14:55819573-55819574	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530607826	chr14:55819609-55819610	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184333135	chr14:55819628-55819629	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564209602	chr14:55819662-55819663	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188484784	chr14:55819667-55819668	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs180928861	chr14:55819736-55819737	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547211150	chr14:55819759-55819760	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568411703	chr14:55819760-55819761	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1045004	chr14:55819791-55819792	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs17128429	chr14:55819800-55819801	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185805973	chr14:55819811-55819812	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568875010	chr14:55819834-55819835	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539468602	chr14:55819842-55819843	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs114041012	chr14:55819846-55819847	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547815910	chr14:55819859-55819860	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs566967371	chr14:55819903-55819904	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539451325	chr14:55819926-55819927	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs534511521	chr14:55819942-55819943	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs553182049	chr14:55819946-55819947	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574762226	chr14:55819954-55819955	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs118019110	chr14:55819979-55819980	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs79227151	chr14:55819995-55819996	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs78257864	chr14:55819996-55819997	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200044467	chr14:55820011-55820012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs375568534	chr14:55820023-55820024	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs556079334	chr14:55820061-55820062	Weak transcription Strong transcription Enhancers	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
41	rs575285790	chr14:55820147-55820148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545791855	chr14:55820156-55820157	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs117256830	chr14:55820187-55820188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144497401	chr14:55820214-55820215	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528236471	chr14:55820290-55820291	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs370383928	chr14:55820352-55820353	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs576078082	chr14:55820369-55820370	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs540448117	chr14:55820421-55820422	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs561975935	chr14:55820422-55820423	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs149531026	chr14:55820439-55820440	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1302 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55800600-55823600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
3	chr14:55806800-55820800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:55811200-55820600	Weak transcription	Fetal Heart	heart
6	chr14:55813600-55837200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:55814000-55830400	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:55814400-55853200	Weak transcription	Right Atrium	heart
9	chr14:55815400-55820600	Weak transcription	Psoas Muscle	Psoas
10	chr14:55816000-55837200	Weak transcription	K562	blood
11	chr14:55816200-55820600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:55816400-55823600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:55816600-55819600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:55816600-55823000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:55817000-55819400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr14:55817000-55819400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:55817000-55819600	Strong transcription	Primary T cells from cord blood	blood
18	chr14:55817000-55819600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:55817000-55819600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:55817000-55819800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:55817000-55819800	Strong transcription	Thymus	Thymus
22	chr14:55817000-55820000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:55817000-55820000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr14:55817000-55820000	Strong transcription	Osteobl	bone
25	chr14:55817000-55820200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:55817000-55821000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr14:55817000-55822800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:55817200-55819400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:55817200-55819400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:55817200-55819400	Strong transcription	Adipose Nuclei	Adipose
31	chr14:55817200-55819400	Strong transcription	Brain Anterior Caudate	brain
32	chr14:55817200-55819400	Strong transcription	Brain Cingulate Gyrus	brain
33	chr14:55817200-55819400	Strong transcription	HepG2	liver
34	chr14:55817200-55819600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr14:55817200-55819600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:55817200-55819600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:55817200-55819600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:55817200-55819600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:55817200-55819600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr14:55817200-55819600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:55817200-55819600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:55817200-55819600	Strong transcription	Lung	lung
43	chr14:55817200-55819600	Strong transcription	Right Ventricle	heart
44	chr14:55817200-55819600	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:55817200-55819600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr14:55817200-55819800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:55817200-55819800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:55817200-55819800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:55817200-55819800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:55817200-55819800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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