Variant report

Variant	nsv1054482
Chromosome Location	chr14:104961016-105037016
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:58)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:104694080..104694805-chr14:105030047..105031033,2	MCF-7	breast:
2	chr14:104989297..104991322-chr14:104992411..104994539,2	MCF-7	breast:
3	chr14:104972353..104974316-chr14:104979460..104981371,2	K562	blood:
4	chr14:105030217..105030977-chr14:105106374..105106938,2	K562	blood:
5	chr14:105013872..105015383-chr14:105019169..105021029,2	K562	blood:
6	chr14:105017921..105022172-chr14:105022189..105024897,5	MCF-7	breast:
7	chr14:104970856..104973249-chr14:104973750..104975351,2	MCF-7	breast:
8	chr14:105017921..105022172-chr14:105022189..105024897,5	MCF-7	breast:
9	chr14:104969493..104972414-chr14:104974399..104975982,2	K562	blood:
10	chr14:105034085..105038904-chr14:105041483..105045004,4	MCF-7	breast:
11	chr14:104972522..104975026-chr14:104979915..104983932,3	MCF-7	breast:
12	chr14:104989297..104991322-chr14:104992411..104994539,2	MCF-7	breast:
13	chr14:104969493..104972414-chr14:104974399..104975982,2	K562	blood:
14	chr14:105022528..105025531-chr14:105027060..105029977,3	K562	blood:
15	chr14:105029275..105030973-chr14:105053381..105055372,2	MCF-7	breast:
16	chr14:104603508..104604499-chr14:105029618..105031234,27	MCF-7	breast:
17	chr14:105017735..105019335-chr6:28831183..28833671,2	MCF-7	breast:
18	chr14:104544184..104544985-chr14:105029856..105031015,7	MCF-7	breast:
19	chr14:104603333..104605492-chr14:105030428..105032769,2	MCF-7	breast:
20	chr14:105025262..105028783-chr14:105030319..105032347,4	MCF-7	breast:
21	chr14:105006694..105010475-chr14:105012280..105015827,3	MCF-7	breast:
22	chr14:105025262..105028783-chr14:105030319..105032347,4	MCF-7	breast:
23	chr14:104970856..104973249-chr14:104973750..104975351,2	MCF-7	breast:
24	chr14:104824690..104827500-chr14:105019187..105021176,2	MCF-7	breast:
25	chr14:105032385..105034173-chr14:105061495..105063938,2	K562	blood:
26	chr14:105018505..105021042-chr14:105030444..105032502,2	MCF-7	breast:
27	chr14:104567251..104568942-chr14:105029276..105031338,2	MCF-7	breast:
28	chr14:104998567..105001306-chr14:105002948..105006156,3	MCF-7	breast:
29	chr14:104603560..104604807-chr14:105030044..105030981,6	MCF-7	breast:
30	chr14:105016071..105018557-chr14:105018817..105021096,3	K562	blood:
31	chr14:104597148..104597987-chr14:105029848..105030810,3	MCF-7	breast:
32	chr14:105013872..105015383-chr14:105019169..105021029,2	K562	blood:
33	chr14:105016071..105018557-chr14:105018817..105021096,3	K562	blood:
34	chr14:105027918..105029787-chr14:105034276..105037133,2	MCF-7	breast:
35	chr14:104544004..104544697-chr14:105030089..105031236,3	MCF-7	breast:
36	chr14:104544095..104545346-chr14:105030053..105031029,7	K562	blood:
37	chr14:104603534..104604192-chr14:105028243..105029014,2	MCF-7	breast:
38	chr14:105018505..105021042-chr14:105030444..105032502,2	MCF-7	breast:
39	chr14:105027918..105029787-chr14:105034276..105037133,2	MCF-7	breast:
40	chr14:104972353..104974316-chr14:104979460..104981371,2	K562	blood:
41	chr14:105006694..105010475-chr14:105012280..105015827,3	MCF-7	breast:
42	chr14:104972522..104975026-chr14:104979915..104983932,3	MCF-7	breast:
43	chr14:104603594..104604494-chr14:105016753..105017932,4	MCF-7	breast:
44	chr14:104599830..104602632-chr14:105024556..105026842,2	MCF-7	breast:
45	chr14:105035401..105038783-chr14:105042040..105045385,3	MCF-7	breast:
46	chr14:104578163..104580512-chr14:105027254..105029393,2	MCF-7	breast:
47	chr14:104602285..104604606-chr14:105027289..105030127,2	MCF-7	breast:
48	chr14:104808612..104811334-chr14:105028919..105032790,3	MCF-7	breast:
49	chr14:105017888..105020132-chr14:105106949..105108571,2	MCF-7	breast:
50	chr14:104602607..104605303-chr14:105029346..105032032,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM179-5	chr14:104975962-104978198	NONHSAT040260
2	lnc-C14orf180-3	chr14:104993418-104993777	expReg_chr14_7636_+

No data

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

Extended variants
information (count: 3173 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3173 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558875965	chr14:104961030-104961031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572607980	chr14:104961034-104961035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575670014	chr14:104961059-104961060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187820900	chr14:104961079-104961080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373941075	chr14:104961138-104961139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184643046	chr14:104962211-104962212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs548142752	chr14:104962212-104962213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs547797693	chr14:104962217-104962218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs111727554	chr14:104962309-104962310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs144017646	chr14:104962369-104962370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs10140805	chr14:104962372-104962373	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576957106	chr14:104962389-104962390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539394870	chr14:104962396-104962397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs189158084	chr14:104962398-104962399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576367130	chr14:104962433-104962434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs541864404	chr14:104962442-104962443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs10151834	chr14:104962454-104962455	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs3889686	chr14:104962526-104962527	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114480917	chr14:104962528-104962529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560563113	chr14:104962529-104962530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs28449913	chr14:104962667-104962668	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs28714324	chr14:104962678-104962679	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562858147	chr14:104962680-104962681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531856237	chr14:104962698-104962699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs28566061	chr14:104962704-104962705	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35480335	chr14:104962712-104962713	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534072001	chr14:104962753-104962754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs148647340	chr14:104962754-104962755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs11620654	chr14:104963006-104963007	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7140257	chr14:104963012-104963013	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74088738	chr14:104963039-104963040	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181611588	chr14:104963081-104963082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372042641	chr14:104963097-104963098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561790483	chr14:104963098-104963099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs4294750	chr14:104963113-104963114	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547431486	chr14:104963143-104963144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs377044990	chr14:104963149-104963150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs76583337	chr14:104963172-104963173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570942470	chr14:104963229-104963230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185686097	chr14:104963339-104963340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550030750	chr14:104963349-104963350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190928836	chr14:104963387-104963388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs7141960	chr14:104966414-104966415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571992040	chr14:104966428-104966429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376777800	chr14:104966432-104966433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573282102	chr14:104966451-104966452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545471414	chr14:104966455-104966456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111526795	chr14:104966481-104966482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558373915	chr14:104966484-104966485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575094368	chr14:104966514-104966515	Enhancers	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:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104959600-104961200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr14:104962200-104962600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr14:104962200-104962800	ZNF genes & repeats	Right Atrium	heart
4	chr14:104963000-104963400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:104966400-104966600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:104966600-104970600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:104966800-104967200	Enhancers	Brain Germinal Matrix	brain
8	chr14:104970000-104972000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr14:104970400-104970800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:104970600-104970800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:104970600-104971000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:104970600-104971000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:104970800-104971000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
14	chr14:104970800-104971400	Enhancers	Spleen	Spleen
15	chr14:104971000-104972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:104971200-104971800	Enhancers	Brain Germinal Matrix	brain
17	chr14:104971600-104971800	Enhancers	Fetal Brain Male	brain
18	chr14:104971800-104972000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:104971800-104972600	Weak transcription	Brain Germinal Matrix	brain
20	chr14:104971800-104973400	Weak transcription	Fetal Brain Male	brain
21	chr14:104972200-104972400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:104972200-104973400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:104972600-104972800	Enhancers	Brain Germinal Matrix	brain
24	chr14:104973400-104973800	Enhancers	Fetal Brain Male	brain
25	chr14:104973400-104976000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:104973800-104976000	Weak transcription	Fetal Brain Male	brain
27	chr14:104974200-104974400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:104976000-104977600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:104976000-104982000	Enhancers	Fetal Brain Male	brain
30	chr14:104976200-104976600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr14:104976200-104981000	Enhancers	Brain Germinal Matrix	brain
32	chr14:104976400-104981800	Enhancers	Fetal Brain Female	brain
33	chr14:104976600-104977800	Enhancers	Esophagus	oesophagus
34	chr14:104976600-104978600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:104976800-104977000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:104976800-104977200	Enhancers	Brain Cingulate Gyrus	brain
37	chr14:104976800-104977400	Enhancers	Brain Hippocampus Middle	brain
38	chr14:104976800-104977600	Enhancers	Brain Angular Gyrus	brain
39	chr14:104976800-104977800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr14:104976800-104977800	Enhancers	Brain Substantia Nigra	brain
41	chr14:104977000-104977600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:104977000-104977800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:104977000-104977800	Enhancers	Brain Anterior Caudate	brain
44	chr14:104977000-104977800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr14:104977000-104977800	Bivalent Enhancer	NHEK	skin
46	chr14:104977000-104978000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr14:104977200-104977400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr14:104977200-104977600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:104977200-104977600	Bivalent Enhancer	HMEC	breast
50	chr14:104977400-104977600	Enhancers	Brain Cingulate Gyrus	brain

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