Variant report

Variant	nsv524908
Chromosome Location	chr14:64700045-64703593
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64698101..64700318-chr14:64700621..64702248,2	MCF-7	breast:
2	chr14:64682391..64682932-chr14:64701375..64701946,2	MCF-7	breast:
3	chr14:64701457..64702120-chr14:64765041..64765931,2	MCF-7	breast:
4	chr14:64701764..64704749-chr14:64970192..64972112,2	MCF-7	breast:
5	chr14:64699270..64701391-chr14:64702522..64704154,2	MCF-7	breast:
6	chr14:64681860..64684849-chr14:64698718..64700886,3	MCF-7	breast:
7	chr14:64699270..64701391-chr14:64702522..64704154,2	MCF-7	breast:
8	chr14:64701804..64703412-chr14:64765136..64766748,2	MCF-7	breast:
9	chr14:64690892..64693639-chr14:64700268..64702860,3	MCF-7	breast:
10	chr14:64701411..64702290-chr14:64764943..64765931,3	MCF-7	breast:
11	chr14:64698101..64700318-chr14:64700621..64702248,2	MCF-7	breast:
12	chr14:64694405..64698467-chr14:64698699..64701055,4	MCF-7	breast:
13	chr14:64682391..64683248-chr14:64701375..64702283,4	MCF-7	breast:
14	chr14:64701659..64704399-chr14:64760187..64762657,2	MCF-7	breast:
15	chr14:64701273..64703199-chr14:64731826..64734576,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089775	chromatin interactions
ENSG00000126804	chromatin interactions
ENSG00000140009	chromatin interactions
ENSG00000054654	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs944050	chr14:64700045-64700046	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181906871	chr14:64700046-64700047	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368744840	chr14:64700058-64700059	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs28649584	chr14:64700076-64700077	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372668044	chr14:64700077-64700078	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs58684342	chr14:64700082-64700083	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs58213162	chr14:64700096-64700097	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs57964318	chr14:64700109-64700110	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534099412	chr14:64700110-64700111	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547986590	chr14:64700118-64700119	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs944049	chr14:64700182-64700183	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536343482	chr14:64700183-64700184	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11851942	chr14:64700210-64700211	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559446698	chr14:64700214-64700215	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116919186	chr14:64700224-64700225	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs944048	chr14:64700243-64700244	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs944047	chr14:64700292-64700293	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs944046	chr14:64700299-64700300	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs558861437	chr14:64700352-64700353	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572383514	chr14:64700371-64700372	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61366663	chr14:64700380-64700381	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554754705	chr14:64700384-64700385	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574594638	chr14:64700404-64700405	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543100206	chr14:64700405-64700406	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs56831520	chr14:64700518-64700519	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143073294	chr14:64700553-64700554	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185111921	chr14:64700573-64700574	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552093247	chr14:64700574-64700575	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372892210	chr14:64700575-64700576	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527989735	chr14:64700576-64700577	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547821053	chr14:64700585-64700586	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147485508	chr14:64700688-64700689	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530264666	chr14:64700694-64700695	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1256064	chr14:64700739-64700740	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs139820982	chr14:64700752-64700753	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543626457	chr14:64700771-64700772	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190170221	chr14:64700772-64700773	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571807743	chr14:64700776-64700777	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558593461	chr14:64700785-64700786	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs867442	chr14:64700853-64700854	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539623000	chr14:64700901-64700902	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181512766	chr14:64700961-64700962	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs59566953	chr14:64700983-64700984	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs118122973	chr14:64700990-64700991	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs867443	chr14:64701042-64701043	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556211675	chr14:64701061-64701062	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576145350	chr14:64701068-64701069	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544961719	chr14:64701088-64701089	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs564932537	chr14:64701116-64701117	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149574093	chr14:64701128-64701129	Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64665400-64700200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:64674800-64700600	Strong transcription	Fetal Intestine Large	intestine
3	chr14:64688600-64700200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr14:64688800-64710600	Weak transcription	Fetal Heart	heart
5	chr14:64689200-64705400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:64690200-64711200	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:64691600-64700800	Weak transcription	Brain Anterior Caudate	brain
8	chr14:64691600-64701000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:64691800-64701400	Weak transcription	NHEK	skin
10	chr14:64692200-64701000	Weak transcription	Brain Angular Gyrus	brain
11	chr14:64692400-64700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:64692400-64701200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:64692600-64700400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:64694600-64701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:64695800-64700200	Weak transcription	Fetal Brain Male	brain
16	chr14:64695800-64705800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:64696000-64700800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:64696000-64700800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:64696000-64701000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:64696000-64701200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:64696000-64701600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:64696000-64701800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:64696000-64701800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:64696000-64702800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:64696000-64703400	Weak transcription	Gastric	stomach
26	chr14:64696000-64705600	Weak transcription	Fetal Lung	lung
27	chr14:64696000-64705800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:64696200-64700400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:64696200-64700600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:64696200-64701000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:64696200-64702800	Weak transcription	Fetal Kidney	kidney
32	chr14:64696200-64706000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:64696400-64701000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:64696400-64703000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:64696400-64708200	Weak transcription	Aorta	Aorta
36	chr14:64697000-64700400	Strong transcription	Dnd41	blood
37	chr14:64697200-64702800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:64697600-64700800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:64697800-64700400	Strong transcription	Brain Germinal Matrix	brain
40	chr14:64698200-64700600	Strong transcription	Adipose Nuclei	Adipose
41	chr14:64698200-64700800	Enhancers	HUVEC	blood vessel
42	chr14:64698200-64701600	Weak transcription	Colonic Mucosa	Colon
43	chr14:64698400-64700600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:64698400-64705600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr14:64698600-64700400	Strong transcription	Esophagus	oesophagus
46	chr14:64698600-64700600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:64698600-64702600	Strong transcription	Fetal Stomach	stomach
48	chr14:64698800-64700200	Genic enhancers	Left Ventricle	heart
49	chr14:64698800-64700200	Genic enhancers	Spleen	Spleen
50	chr14:64698800-64700400	Genic enhancers	Thymus	Thymus

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