Variant report

Variant	nsv983957
Chromosome Location	chr14:55836658-55843320
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55839764..55841295-chr14:55849699..55852190,2	MCF-7	breast:
2	chr14:55834865..55836765-chr14:55837611..55840603,2	MCF-7	breast:
3	chr14:55836452..55838141-chr14:55877105..55879990,2	MCF-7	breast:
4	chr14:55741219..55743724-chr14:55842987..55845044,2	K562	blood:
5	chr14:55842441..55844954-chr14:55847953..55850798,4	K562	blood:
6	chr14:55838023..55840863-chr14:55842688..55845162,2	K562	blood:
7	chr14:55838023..55840863-chr14:55842688..55845162,2	K562	blood:
8	chr14:55834865..55836765-chr14:55837611..55840603,2	MCF-7	breast:
9	chr14:55828992..55831981-chr14:55837033..55839790,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000126775	chromatin interactions

Extended variants
information (count: 312 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200842228	chr14:55836669-55836670	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369167678	chr14:55836679-55836680	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554925806	chr14:55836694-55836695	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531727924	chr14:55836699-55836700	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189195104	chr14:55836744-55836745	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528496192	chr14:55836746-55836747	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10136596	chr14:55836773-55836774	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs115312481	chr14:55836799-55836800	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529897716	chr14:55836889-55836890	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372185466	chr14:55836900-55836901	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs151198431	chr14:55836916-55836917	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375119329	chr14:55836927-55836928	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536171648	chr14:55836928-55836929	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75789405	chr14:55836975-55836976	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548696542	chr14:55836981-55836982	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558914153	chr14:55836994-55836995	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116405666	chr14:55837030-55837031	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369563173	chr14:55837032-55837033	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550031465	chr14:55837034-55837035	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74726735	chr14:55837043-55837044	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540814814	chr14:55837046-55837047	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538233217	chr14:55837047-55837048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140251092	chr14:55837052-55837053	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146983002	chr14:55837057-55837058	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35577968	chr14:55837121-55837122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372482886	chr14:55837124-55837125	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542398462	chr14:55837130-55837131	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs72717733	chr14:55837198-55837199	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200043542	chr14:55837230-55837231	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375564914	chr14:55837246-55837247	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs117636590	chr14:55837255-55837256	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546057506	chr14:55837260-55837261	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147914064	chr14:55837277-55837278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs80197603	chr14:55837288-55837289	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540318914	chr14:55837337-55837338	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138266041	chr14:55837361-55837362	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529330662	chr14:55837365-55837366	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551099162	chr14:55837374-55837375	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376340600	chr14:55837379-55837380	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569841389	chr14:55837386-55837387	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113333931	chr14:55837412-55837413	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368918157	chr14:55837421-55837422	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536343811	chr14:55837433-55837434	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552485806	chr14:55837445-55837446	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570682715	chr14:55837448-55837449	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192154575	chr14:55837451-55837452	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143371948	chr14:55837454-55837455	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184196713	chr14:55837456-55837457	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535155861	chr14:55837460-55837461	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556657895	chr14:55837461-55837462	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
2	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:55813600-55837200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:55814400-55853200	Weak transcription	Right Atrium	heart
5	chr14:55816000-55837200	Weak transcription	K562	blood
6	chr14:55818000-55841800	Weak transcription	Hela-S3	cervix
7	chr14:55818200-55842800	Weak transcription	Brain Angular Gyrus	brain
8	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:55818800-55842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:55819200-55842800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:55819400-55847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:55819400-55850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:55819800-55842200	Weak transcription	HSMM	muscle
16	chr14:55821200-55842800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:55821400-55848800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:55821400-55849200	Weak transcription	Fetal Heart	heart
19	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:55821800-55839800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:55821800-55840400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:55822200-55842800	Weak transcription	Brain Substantia Nigra	brain
23	chr14:55823200-55840600	Weak transcription	NHEK	skin
24	chr14:55823200-55848400	Weak transcription	HMEC	breast
25	chr14:55824000-55848400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:55828200-55837400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr14:55830400-55837400	Strong transcription	Primary T cells from cord blood	blood
28	chr14:55830800-55837200	Strong transcription	Fetal Intestine Large	intestine
29	chr14:55830800-55839000	Strong transcription	Fetal Muscle Leg	muscle
30	chr14:55831000-55859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:55831400-55837000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:55831800-55837000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr14:55831800-55837000	Strong transcription	Left Ventricle	heart
34	chr14:55831800-55858000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr14:55832000-55837000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr14:55832000-55837400	Strong transcription	Fetal Thymus	thymus
37	chr14:55832000-55838200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:55832000-55839600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:55832000-55840600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:55832000-55849600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:55832000-55850800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:55832200-55837000	Strong transcription	Brain Hippocampus Middle	brain
43	chr14:55832200-55837400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:55832200-55838000	Strong transcription	Brain Cingulate Gyrus	brain
45	chr14:55832400-55839200	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:55832400-55857800	Strong transcription	Liver	Liver
47	chr14:55832600-55838800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:55832600-55840200	Weak transcription	Primary B cells from cord blood	blood
49	chr14:55832800-55842400	Weak transcription	Fetal Kidney	kidney
50	chr14:55832800-55842800	Weak transcription	Pancreas	Pancrea

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