Variant report

Variant	nsv826971
Chromosome Location	chr14:70086328-70088629
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70071959..70073623-chr14:70086065..70088402,2	K562	blood:
2	chr14:70087739..70089747-chr14:70125920..70128190,2	MCF-7	breast:
3	chr14:70080315..70081958-chr14:70085435..70087455,2	K562	blood:
4	chr14:70083322..70086232-chr14:70086631..70089872,4	K562	blood:
5	chr14:70086768..70089383-chr14:70104603..70106500,2	MCF-7	breast:
6	chr14:70086712..70090061-chr14:70093256..70096092,3	K562	blood:
7	chr14:70077503..70080648-chr14:70081276..70089043,11	MCF-7	breast:
8	chr14:70085556..70087478-chr14:70119417..70121355,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100647	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10554011	chr14:70086331-70086332	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557107527	chr14:70086372-70086373	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547931963	chr14:70086403-70086404	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189322813	chr14:70086410-70086411	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566030130	chr14:70086430-70086431	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555039264	chr14:70086454-70086455	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535464461	chr14:70086490-70086491	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74060224	chr14:70086505-70086506	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147753129	chr14:70086529-70086530	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148820153	chr14:70086545-70086546	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs8010466	chr14:70086601-70086602	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181239555	chr14:70086620-70086621	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573013080	chr14:70086642-70086643	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116237362	chr14:70086644-70086645	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541260337	chr14:70086646-70086647	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373867413	chr14:70086658-70086659	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs8010868	chr14:70086659-70086660	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561033141	chr14:70086730-70086731	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143426707	chr14:70086799-70086800	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150936439	chr14:70086855-70086856	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34686932	chr14:70086874-70086875	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs367610238	chr14:70086889-70086890	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563660509	chr14:70086897-70086898	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550847221	chr14:70086916-70086917	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs117876462	chr14:70086934-70086935	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112787815	chr14:70086962-70086963	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144682754	chr14:70086990-70086991	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566914778	chr14:70087028-70087029	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371450882	chr14:70087046-70087047	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559518387	chr14:70087097-70087098	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114804146	chr14:70087179-70087180	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537632763	chr14:70087187-70087188	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112913475	chr14:70087211-70087212	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114552580	chr14:70087228-70087229	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184886988	chr14:70087289-70087290	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555718974	chr14:70087291-70087292	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141795871	chr14:70087351-70087352	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560942198	chr14:70087382-70087383	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188759936	chr14:70087387-70087388	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs74060225	chr14:70087432-70087433	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564672536	chr14:70087455-70087456	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557979432	chr14:70087553-70087554	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531973689	chr14:70087566-70087567	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11627867	chr14:70087647-70087648	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548396640	chr14:70087653-70087654	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115407412	chr14:70087660-70087661	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548727499	chr14:70087761-70087762	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566971755	chr14:70087766-70087767	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568206101	chr14:70087772-70087773	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145535566	chr14:70087844-70087845	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70080000-70089200	Enhancers	Small Intestine	intestine
3	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
4	chr14:70080600-70088200	Enhancers	Liver	Liver
5	chr14:70080600-70088800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr14:70080800-70088800	Enhancers	Brain Substantia Nigra	brain
7	chr14:70080800-70092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:70081200-70087400	Enhancers	Brain Angular Gyrus	brain
9	chr14:70081200-70088600	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:70081600-70088800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:70082400-70086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:70082400-70092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70082400-70092000	Weak transcription	Gastric	stomach
14	chr14:70082400-70092200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:70082600-70088000	Weak transcription	HepG2	liver
16	chr14:70082600-70088600	Enhancers	Brain Anterior Caudate	brain
17	chr14:70082600-70092600	Weak transcription	Esophagus	oesophagus
18	chr14:70082800-70086400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:70082800-70087200	Enhancers	Colon Smooth Muscle	Colon
20	chr14:70082800-70089600	Enhancers	Primary B cells from peripheral blood	blood
21	chr14:70083000-70088800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:70083000-70088800	Enhancers	Thymus	Thymus
23	chr14:70083000-70089000	Enhancers	Adipose Nuclei	Adipose
24	chr14:70083000-70092000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:70083000-70092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:70083200-70086800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr14:70083200-70086800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:70083200-70087800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:70083200-70088800	Enhancers	Duodenum Mucosa	Duodenum
30	chr14:70083200-70091800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr14:70083200-70092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:70083200-70092000	Enhancers	Primary T cells from cord blood	blood
33	chr14:70083200-70092000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr14:70083200-70092000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:70083400-70086800	Weak transcription	Fetal Kidney	kidney
36	chr14:70083400-70087200	Enhancers	Stomach Smooth Muscle	stomach
37	chr14:70083400-70087400	Enhancers	HSMMtube	muscle
38	chr14:70083400-70087800	Enhancers	Rectal Smooth Muscle	rectum
39	chr14:70083400-70088200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:70083400-70089000	Enhancers	HMEC	breast
41	chr14:70083400-70089200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr14:70083400-70089600	Enhancers	K562	blood
43	chr14:70083400-70090000	Weak transcription	HUVEC	blood vessel
44	chr14:70083400-70091800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr14:70083400-70092000	Weak transcription	Fetal Stomach	stomach
46	chr14:70083400-70093400	Enhancers	Brain Hippocampus Middle	brain
47	chr14:70083400-70095200	Weak transcription	Fetal Intestine Large	intestine
48	chr14:70083400-70097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:70083800-70086800	Enhancers	Primary B cells from cord blood	blood
50	chr14:70083800-70089000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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