Variant report

Variant	nsv526811
Chromosome Location	chr14:67946912-67949074
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:0)
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	chr14:67946762..67947287-chr14:67969455..67970025,2	MCF-7	breast:
2	chr14:67935396..67937435-chr14:67945472..67948247,2	MCF-7	breast:
3	chr14:67946150..67948174-chr14:67950017..67952096,2	MCF-7	breast:
4	chr14:67945641..67948338-chr14:67966357..67969353,2	MCF-7	breast:
5	chr14:67944442..67947234-chr14:67997536..68000572,3	MCF-7	breast:
6	chr14:67944168..67950756-chr14:67978926..67983400,9	MCF-7	breast:
7	chr14:67945430..67947453-chr14:67950590..67952638,3	MCF-7	breast:
8	chr14:67919473..67920342-chr14:67946537..67947177,3	MCF-7	breast:
9	chr14:67912569..67913643-chr14:67946452..67947328,6	MCF-7	breast:
10	chr14:67908929..67909688-chr14:67946732..67947393,3	MCF-7	breast:
11	chr14:67908880..67909947-chr14:67946478..67947292,3	MCF-7	breast:
12	chr14:67939344..67942070-chr14:67946929..67950674,3	MCF-7	breast:
13	chr14:67919473..67920365-chr14:67946537..67947323,6	MCF-7	breast:
14	chr14:67945813..67949224-chr14:67990739..67993658,4	MCF-7	breast:
15	chr14:67945315..67948095-chr14:67972222..67974425,2	MCF-7	breast:
16	chr14:67912599..67913704-chr14:67946532..67947321,6	MCF-7	breast:
17	chr14:67945105..67947990-chr14:67956817..67958766,2	MCF-7	breast:
18	chr14:67908947..67909688-chr14:67946562..67947331,3	MCF-7	breast:
19	chr14:67928246..67929078-chr14:67946550..67947331,3	MCF-7	breast:
20	chr14:67928154..67928999-chr14:67946524..67947358,3	MCF-7	breast:
21	chr14:67935565..67937568-chr14:67945579..67947744,3	MCF-7	breast:
22	chr14:67946842..67948505-chr14:67958854..67960376,2	MCF-7	breast:
23	chr14:67946457..67947472-chr14:68000217..68001213,11	MCF-7	breast:
24	chr14:67946462..67947472-chr14:68000220..68001028,4	MCF-7	breast:
25	chr14:67907067..67911151-chr14:67944659..67948573,6	MCF-7	breast:
26	chr14:67945819..67948998-chr14:67952251..67955708,4	MCF-7	breast:
27	chr14:67946481..67947300-chr14:67979982..67980806,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198133	chromatin interactions
ENSG00000265993	chromatin interactions
ENSG00000054690	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17104366	chr14:67946912-67946913	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143669720	chr14:67946950-67946951	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs546401046	chr14:67946951-67946952	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs374613038	chr14:67946967-67946968	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs558519915	chr14:67947016-67947017	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs576832770	chr14:67947041-67947042	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs543725998	chr14:67947070-67947071	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs192890895	chr14:67947100-67947101	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs540688975	chr14:67947127-67947128	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs562514965	chr14:67947138-67947139	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576689805	chr14:67947153-67947154	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs529613957	chr14:67947172-67947173	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs74058425	chr14:67947173-67947174	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185079630	chr14:67947194-67947195	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs559982495	chr14:67947195-67947196	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs555622818	chr14:67947226-67947227	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs551975814	chr14:67947229-67947230	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs570277852	chr14:67947246-67947247	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs189594202	chr14:67947247-67947248	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112629588	chr14:67947292-67947293	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs541420590	chr14:67947329-67947330	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568487060	chr14:67947343-67947344	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192835643	chr14:67947370-67947371	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554272688	chr14:67947379-67947380	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146545276	chr14:67947401-67947402	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141153392	chr14:67947411-67947412	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539915513	chr14:67947423-67947424	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558402717	chr14:67947547-67947548	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs566136202	chr14:67947561-67947562	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576671972	chr14:67947587-67947588	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs144891098	chr14:67947671-67947672	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs8007004	chr14:67947806-67947807	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573196786	chr14:67947829-67947830	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541446190	chr14:67947897-67947898	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs183674861	chr14:67947954-67947955	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375632548	chr14:67948006-67948007	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188042593	chr14:67948034-67948035	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368175502	chr14:67948112-67948113	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75570856	chr14:67948132-67948133	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572064701	chr14:67948151-67948152	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs74058426	chr14:67948169-67948170	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531401567	chr14:67948190-67948191	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs550088661	chr14:67948211-67948212	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545272680	chr14:67948290-67948291	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs529314033	chr14:67948333-67948334	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181974299	chr14:67948427-67948428	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs79903243	chr14:67948473-67948474	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs1609998	chr14:67948482-67948483	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs2145466	chr14:67948499-67948500	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs112271431	chr14:67948518-67948519	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67933000-67954400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:67934600-67950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
4	chr14:67935200-67952200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:67936000-67952000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:67937400-67951600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:67937400-67954800	Weak transcription	Gastric	stomach
8	chr14:67937400-67955000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:67937600-67952000	Strong transcription	Primary T cells from cord blood	blood
10	chr14:67937600-67955000	Weak transcription	Brain Anterior Caudate	brain
11	chr14:67938200-67953400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:67938400-67951800	Weak transcription	Fetal Brain Female	brain
13	chr14:67938800-67947000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:67939400-67952400	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:67939800-67953800	Weak transcription	Primary B cells from cord blood	blood
16	chr14:67940600-67950000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:67940800-67950200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:67941600-67948200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr14:67942000-67955000	Weak transcription	Esophagus	oesophagus
20	chr14:67942800-67950400	Weak transcription	Lung	lung
21	chr14:67943000-67947000	Weak transcription	Spleen	Spleen
22	chr14:67943000-67947200	Weak transcription	Fetal Thymus	thymus
23	chr14:67944000-67947200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:67945000-67949400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:67945000-67950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:67945000-67950200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:67945200-67950200	Weak transcription	Psoas Muscle	Psoas
28	chr14:67945200-67950400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:67945400-67947000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:67945400-67947800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:67945400-67950200	Weak transcription	Thymus	Thymus
32	chr14:67945400-67955000	Weak transcription	Small Intestine	intestine
33	chr14:67945600-67947000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:67945600-67947400	Weak transcription	Fetal Intestine Large	intestine
35	chr14:67945600-67948600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr14:67945600-67950000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:67945600-67950000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:67945600-67950800	Weak transcription	NHEK	skin
39	chr14:67945600-67951800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:67945600-67954600	Weak transcription	Colonic Mucosa	Colon
41	chr14:67945600-67954800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:67945800-67948200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr14:67946000-67947200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr14:67946200-67947200	Enhancers	HSMMtube	muscle
45	chr14:67946400-67947000	Enhancers	Duodenum Mucosa	Duodenum
46	chr14:67946400-67947200	Enhancers	Fetal Stomach	stomach
47	chr14:67946600-67947000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:67946600-67947000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:67946600-67947000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:67946600-67947000	Enhancers	Fetal Lung	lung

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