Variant report

Variant	nsv983963
Chromosome Location	chr14:81649917-81652878
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	chr14:81645137..81647091-chr14:81650122..81652233,2	K562	blood:
2	chr14:81649550..81651536-chr14:81676600..81679545,2	K562	blood:
3	chr14:81643246..81655314-chr14:81683241..81689401,24	K562	blood:
4	chr14:81649228..81655392-chr14:81682762..81688409,10	K562	blood:
5	chr14:81647751..81650741-chr14:81651817..81654403,2	K562	blood:
6	chr14:81647751..81650741-chr14:81651817..81654403,2	K562	blood:
7	chr14:81637815..81640374-chr14:81649220..81650814,2	K562	blood:
8	chr14:81647401..81650665-chr14:81685451..81688014,6	MCF-7	breast:
9	chr14:81651257..81653411-chr14:81683481..81686410,2	MCF-7	breast:
10	chr14:81647686..81650322-chr14:81684054..81687029,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165417	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535767893	chr14:81649928-81649929	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551290946	chr14:81649929-81649930	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191190415	chr14:81649965-81649966	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183397737	chr14:81649975-81649976	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539667236	chr14:81650038-81650039	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532688004	chr14:81650067-81650068	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186601842	chr14:81650072-81650073	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192755933	chr14:81650073-81650074	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184598690	chr14:81650155-81650156	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75641338	chr14:81650245-81650246	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574407593	chr14:81650326-81650327	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143396624	chr14:81650333-81650334	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2033255	chr14:81650364-81650365	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562950459	chr14:81650378-81650379	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530357589	chr14:81650406-81650407	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145899500	chr14:81650555-81650556	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575474007	chr14:81650570-81650571	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138716864	chr14:81650585-81650586	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564527225	chr14:81650641-81650642	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528596655	chr14:81650708-81650709	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376797032	chr14:81650793-81650794	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141546281	chr14:81650899-81650900	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561919572	chr14:81650903-81650904	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150865111	chr14:81650947-81650948	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139414130	chr14:81651082-81651083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566586787	chr14:81651087-81651088	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149631110	chr14:81651170-81651171	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115434528	chr14:81651171-81651172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188390598	chr14:81651200-81651201	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551555920	chr14:81651209-81651210	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552624385	chr14:81651291-81651292	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192902003	chr14:81651315-81651316	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78152453	chr14:81651328-81651329	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567933057	chr14:81651364-81651365	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76544453	chr14:81651382-81651383	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566160146	chr14:81651427-81651428	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184487916	chr14:81651455-81651456	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs72471722	chr14:81651469-81651470	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34622857	chr14:81651473-81651474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550879277	chr14:81651475-81651476	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575614522	chr14:81651505-81651506	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559164411	chr14:81651522-81651523	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114629340	chr14:81651562-81651563	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557977603	chr14:81651576-81651577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs117186507	chr14:81651581-81651582	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188980894	chr14:81651590-81651591	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562233450	chr14:81651609-81651610	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146065657	chr14:81651622-81651623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556663197	chr14:81651645-81651646	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538143269	chr14:81651722-81651723	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:81637000-81659000	Weak transcription	Esophagus	oesophagus
3	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
4	chr14:81637200-81650000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:81637200-81650200	Weak transcription	Fetal Lung	lung
6	chr14:81637200-81651400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:81637200-81651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:81637200-81652400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:81637200-81652600	Weak transcription	NHEK	skin
10	chr14:81637200-81652800	Weak transcription	Fetal Stomach	stomach
11	chr14:81637200-81653000	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:81637200-81658200	Weak transcription	HSMMtube	muscle
13	chr14:81637200-81658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:81637200-81658800	Weak transcription	Colonic Mucosa	Colon
15	chr14:81637200-81658800	Weak transcription	Left Ventricle	heart
16	chr14:81637400-81650000	Weak transcription	Adipose Nuclei	Adipose
17	chr14:81637400-81650000	Weak transcription	Fetal Kidney	kidney
18	chr14:81637400-81651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:81637400-81651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:81637400-81652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:81637400-81653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:81637400-81653000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:81637400-81656800	Weak transcription	HMEC	breast
24	chr14:81637400-81658800	Weak transcription	Fetal Brain Male	brain
25	chr14:81637400-81659000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:81637600-81650000	Weak transcription	Hela-S3	cervix
27	chr14:81637600-81652400	Weak transcription	A549	lung
28	chr14:81638600-81670200	Weak transcription	Psoas Muscle	Psoas
29	chr14:81639400-81653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:81640000-81657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:81640000-81658800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:81642400-81658800	Weak transcription	Pancreas	Pancrea
33	chr14:81643600-81654200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:81643600-81658800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:81644000-81655400	Strong transcription	Dnd41	blood
37	chr14:81644200-81658400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:81644400-81652400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:81644600-81655400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:81644600-81658200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:81644600-81658600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr14:81644600-81658800	Weak transcription	Brain Angular Gyrus	brain
44	chr14:81644600-81666400	Weak transcription	Stomach Mucosa	stomach
45	chr14:81644600-81685400	Weak transcription	Right Ventricle	heart
46	chr14:81644800-81675600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:81645000-81658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:81645200-81655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:81645400-81653200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:81645600-81653800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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