Variant report

Variant	nsv566045
Chromosome Location	chr14:104983655-105037425
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:49)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105035401..105038783-chr14:105042040..105045385,3	MCF-7	breast:
2	chr14:105013872..105015383-chr14:105019169..105021029,2	K562	blood:
3	chr14:105018505..105021042-chr14:105030444..105032502,2	MCF-7	breast:
4	chr14:104603508..104604499-chr14:105029618..105031234,27	MCF-7	breast:
5	chr14:105017888..105020132-chr14:105106949..105108571,2	MCF-7	breast:
6	chr14:104602285..104604606-chr14:105027289..105030127,2	MCF-7	breast:
7	chr14:104599830..104602632-chr14:105024556..105026842,2	MCF-7	breast:
8	chr14:105027918..105029787-chr14:105034276..105037133,2	MCF-7	breast:
9	chr14:104694080..104694805-chr14:105030047..105031033,2	MCF-7	breast:
10	chr14:104998567..105001306-chr14:105002948..105006156,3	MCF-7	breast:
11	chr14:105025262..105028783-chr14:105030319..105032347,4	MCF-7	breast:
12	chr14:105027918..105029787-chr14:105034276..105037133,2	MCF-7	breast:
13	chr14:105025262..105028783-chr14:105030319..105032347,4	MCF-7	breast:
14	chr14:104989297..104991322-chr14:104992411..104994539,2	MCF-7	breast:
15	chr14:104602607..104605303-chr14:105029346..105032032,3	MCF-7	breast:
16	chr14:105013872..105015383-chr14:105019169..105021029,2	K562	blood:
17	chr14:105017921..105022172-chr14:105022189..105024897,5	MCF-7	breast:
18	chr14:104603560..104604807-chr14:105030044..105030981,6	MCF-7	breast:
19	chr14:104824690..104827500-chr14:105019187..105021176,2	MCF-7	breast:
20	chr14:105006694..105010475-chr14:105012280..105015827,3	MCF-7	breast:
21	chr14:105018505..105021042-chr14:105030444..105032502,2	MCF-7	breast:
22	chr14:105030117..105031530-chr14:105105903..105107265,8	MCF-7	breast:
23	chr14:105016071..105018557-chr14:105018817..105021096,3	K562	blood:
24	chr14:104544095..104545346-chr14:105030053..105031029,7	K562	blood:
25	chr14:104609989..104612052-chr14:105021237..105023581,2	MCF-7	breast:
26	chr14:104597148..104597987-chr14:105029848..105030810,3	MCF-7	breast:
27	chr14:105022528..105025531-chr14:105027060..105029977,3	K562	blood:
28	chr14:105032385..105034173-chr14:105061495..105063938,2	K562	blood:
29	chr14:104998567..105001306-chr14:105002948..105006156,3	MCF-7	breast:
30	chr14:104544184..104544985-chr14:105029856..105031015,7	MCF-7	breast:
31	chr14:105029275..105030973-chr14:105053381..105055372,2	MCF-7	breast:
32	chr14:104567251..104568942-chr14:105029276..105031338,2	MCF-7	breast:
33	chr14:105030217..105030977-chr14:105106374..105106938,2	K562	blood:
34	chr14:104597425..104598274-chr14:105030009..105030913,3	MCF-7	breast:
35	chr14:104603333..104605492-chr14:105030428..105032769,2	MCF-7	breast:
36	chr14:105016071..105018557-chr14:105018817..105021096,3	K562	blood:
37	chr14:105017735..105019335-chr6:28831183..28833671,2	MCF-7	breast:
38	chr14:104989297..104991322-chr14:104992411..104994539,2	MCF-7	breast:
39	chr14:104972522..104975026-chr14:104979915..104983932,3	MCF-7	breast:
40	chr14:105017921..105022172-chr14:105022189..105024897,5	MCF-7	breast:
41	chr14:104544004..104544697-chr14:105030089..105031236,3	MCF-7	breast:
42	chr14:104601077..104602107-chr14:105029674..105030837,6	MCF-7	breast:
43	chr14:104808612..104811334-chr14:105028919..105032790,3	MCF-7	breast:
44	chr14:104603594..104604494-chr14:105016753..105017932,4	MCF-7	breast:
45	chr14:104578163..104580512-chr14:105027254..105029393,2	MCF-7	breast:
46	chr14:105022528..105025531-chr14:105027060..105029977,3	K562	blood:
47	chr14:105034085..105038904-chr14:105041483..105045004,4	MCF-7	breast:
48	chr14:104603534..104604192-chr14:105028243..105029014,2	MCF-7	breast:
49	chr14:105006694..105010475-chr14:105012280..105015827,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf180-3	chr14:104993418-104993777	expReg_chr14_7636_+

No data

Variant related genes	Relation type
ENSG00000066735	chromatin interactions
ENSG00000225595	chromatin interactions
ENSG00000258748	chromatin interactions

Extended variants
information (count: 2373 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2373 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4983568	chr14:104983655-104983656	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527693792	chr14:104983671-104983672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554247889	chr14:104983684-104983685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138345399	chr14:104983743-104983744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149637982	chr14:104983769-104983770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60561755	chr14:104983770-104983771	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530116458	chr14:104983801-104983802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371987286	chr14:104983808-104983809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531618577	chr14:104983845-104983846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78150245	chr14:104983848-104983849	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561833151	chr14:104983849-104983850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527491165	chr14:104983850-104983851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193082653	chr14:104983896-104983897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4983569	chr14:104983920-104983921	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532925092	chr14:104983958-104983959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549350808	chr14:104983959-104983960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56166764	chr14:104983966-104983967	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144362216	chr14:104983996-104983997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12878152	chr14:104984014-104984015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568518303	chr14:104984103-104984104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570137684	chr14:104984168-104984169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148338167	chr14:104984175-104984176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs118175333	chr14:104984294-104984295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143117348	chr14:104984298-104984299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183305634	chr14:104984299-104984300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs147473988	chr14:104984314-104984315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376062263	chr14:104984317-104984318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530370814	chr14:104984351-104984352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs542107407	chr14:104984360-104984361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550437399	chr14:104984361-104984362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs55675810	chr14:104984368-104984369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200037135	chr14:104984369-104984370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs72420641	chr14:104984370-104984371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs60693988	chr14:104984371-104984372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200867637	chr14:104984375-104984376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543005801	chr14:104984380-104984381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200027496	chr14:104984382-104984383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs139893002	chr14:104984392-104984393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570212198	chr14:104984397-104984398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369954284	chr14:104984408-104984409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76832661	chr14:104984409-104984410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs137949342	chr14:104984411-104984412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs373445479	chr14:104984412-104984413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs534625200	chr14:104984420-104984421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs56052246	chr14:104984422-104984423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs562908844	chr14:104984426-104984427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200302942	chr14:104984427-104984428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs76764106	chr14:104984447-104984448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs71421865	chr14:104984451-104984452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs548425414	chr14:104984461-104984462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104982000-104984200	Weak transcription	Fetal Brain Male	brain
2	chr14:104982200-104984600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:104984200-104984600	ZNF genes & repeats	Fetal Brain Male	brain
4	chr14:104984600-104985000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104985000-104985400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:104985400-104985800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:104985800-104986200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:104993000-104993200	Enhancers	Gastric	stomach
9	chr14:104993000-104993800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:104993000-104994200	ZNF genes & repeats	Fetal Brain Male	brain
11	chr14:104993200-104993400	Active TSS	Fetal Heart	heart
12	chr14:104993200-104994000	ZNF genes & repeats	Fetal Kidney	kidney
13	chr14:104993400-104994000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:104993400-104998000	Weak transcription	Fetal Heart	heart
15	chr14:104994800-104995000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr14:104997200-104997400	Enhancers	Fetal Brain Female	brain
17	chr14:104997200-104998600	Enhancers	Right Ventricle	heart
18	chr14:104997400-105000400	Weak transcription	Fetal Brain Female	brain
19	chr14:104997600-104997800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:104997800-104998000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr14:104997800-104998600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:104998000-104998600	Enhancers	Fetal Brain Male	brain
23	chr14:104998000-104998600	Enhancers	Fetal Heart	heart
24	chr14:104998000-104998600	Enhancers	Left Ventricle	heart
25	chr14:104998000-104998800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:104998200-104998600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr14:104998400-104998800	Enhancers	NHEK	skin
28	chr14:104998400-104999000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:104998400-104999200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:104998600-105003200	Weak transcription	Left Ventricle	heart
31	chr14:104998600-105003600	Weak transcription	Right Ventricle	heart
32	chr14:104998800-105003600	Weak transcription	NHEK	skin
33	chr14:104999000-105003600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:104999200-105003200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:104999800-105001200	Enhancers	Fetal Brain Male	brain
36	chr14:105000400-105000800	Enhancers	Fetal Brain Female	brain
37	chr14:105000400-105001400	Enhancers	Brain Germinal Matrix	brain
38	chr14:105003000-105004200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:105003200-105003800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:105003200-105003800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:105003200-105004000	Enhancers	Left Ventricle	heart
42	chr14:105003200-105004000	Enhancers	Right Atrium	heart
43	chr14:105003200-105004000	Enhancers	Spleen	Spleen
44	chr14:105003200-105004200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:105003200-105004400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:105003400-105004000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:105003400-105004000	Enhancers	Esophagus	oesophagus
48	chr14:105003400-105004000	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr14:105003400-105004000	Active TSS	Gastric	stomach
50	chr14:105003400-105004000	Enhancers	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links