Variant report

Variant	nsv566038
Chromosome Location	chr14:104723433-104792254
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:36)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104750633..104755093-chr14:104756730..104760416,4	MCF-7	breast:
2	chr14:104769312..104770225-chr14:104779545..104780136,2	MCF-7	breast:
3	chr14:104600334..104603089-chr14:104739484..104741726,2	MCF-7	breast:
4	chr14:104603795..104604545-chr14:104760161..104761480,5	MCF-7	breast:
5	chr14:104747853..104750552-chr14:104755271..104758240,2	MCF-7	breast:
6	chr14:104736178..104738016-chr14:104740822..104743657,2	MCF-7	breast:
7	chr14:104747907..104749438-chr14:104962689..104965288,2	K562	blood:
8	chr14:104617545..104619541-chr14:104760413..104762032,2	MCF-7	breast:
9	chr14:104746362..104748538-chr14:104754609..104757132,3	MCF-7	breast:
10	chr14:104736178..104738016-chr14:104740822..104743657,2	MCF-7	breast:
11	chr14:104651259..104651765-chr14:104760560..104761404,2	MCF-7	breast:
12	chr14:104769312..104770225-chr14:104779545..104780136,2	MCF-7	breast:
13	chr14:104762292..104764129-chr14:104770564..104772247,2	MCF-7	breast:
14	chr14:104728779..104730960-chr14:104733381..104735361,2	K562	blood:
15	chr14:104728779..104730960-chr14:104733381..104735361,2	K562	blood:
16	chr14:104746362..104748538-chr14:104754609..104757132,3	MCF-7	breast:
17	chr14:104756422..104758689-chr14:104761247..104763793,2	MCF-7	breast:
18	chr14:104772029..104774740-chr14:104807798..104809607,2	K562	blood:
19	chr14:104756389..104758056-chr14:104758774..104761093,2	MCF-7	breast:
20	chr14:104773211..104774845-chr14:104779810..104781331,2	MCF-7	breast:
21	chr14:104750633..104755093-chr14:104756730..104760416,4	MCF-7	breast:
22	chr14:104756389..104758056-chr14:104758774..104761093,2	MCF-7	breast:
23	chr14:104723993..104726216-chr14:104758223..104760086,2	K562	blood:
24	chr14:104575830..104578279-chr14:104758176..104760324,2	MCF-7	breast:
25	chr14:104747853..104750552-chr14:104755271..104758240,2	MCF-7	breast:
26	chr14:104768093..104769693-chr14:104774112..104776117,2	MCF-7	breast:
27	chr14:104756422..104758689-chr14:104761247..104763793,2	MCF-7	breast:
28	chr14:104760654..104761549-chr14:104836417..104836978,2	MCF-7	breast:
29	chr14:104768093..104769693-chr14:104774112..104776117,2	MCF-7	breast:
30	chr14:104603676..104604415-chr14:104760235..104760804,2	MCF-7	breast:
31	chr14:104623348..104624079-chr14:104760154..104761091,2	MCF-7	breast:
32	chr14:104722882..104724563-chr14:104724745..104727407,2	MCF-7	breast:
33	chr14:104762292..104764129-chr14:104770564..104772247,2	MCF-7	breast:
34	chr14:104722882..104724563-chr14:104724745..104727407,2	MCF-7	breast:
35	chr14:104723993..104726216-chr14:104758223..104760086,2	K562	blood:
36	chr14:104773211..104774845-chr14:104779810..104781331,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-614O9.3.1-3	chr14:104755902-104756432	NONHSAT040255
2	lnc-RP11-614O9.3.1-3	chr14:104753936-104755057	NONHSAT040254
3	lnc-C14orf144-1	chr14:104753823-104753890	ENSG00000258913
4	lnc-C14orf144-1	chr14:104753823-104753890	NONHSAT040253
5	lnc-C14orf144-1	chr14:104754171-104754406	ENSG00000258913
6	lnc-C14orf144-1	chr14:104747468-104747661	NONHSAT040253
7	lnc-RP11-614O9.3.1-3	chr14:104755476-104756432	NONHSAT040254
8	lnc-C14orf144-1	chr14:104741681-104741966	ENSG00000258913
9	lnc-C14orf144-1	chr14:104756355-104756432	NONHSAT040253

No data

Variant related genes	Relation type
ENSG00000258748	chromatin interactions
ENSG00000166183	chromatin interactions

Extended variants
information (count: 3402 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3402 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10143250	chr14:104723433-104723434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572742612	chr14:104723479-104723480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189858143	chr14:104723490-104723491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530452505	chr14:104723507-104723508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368700793	chr14:104723511-104723512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550536158	chr14:104723517-104723518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149000746	chr14:104723548-104723549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567266624	chr14:104723594-104723595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536305224	chr14:104723634-104723635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs8008127	chr14:104723686-104723687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs117027509	chr14:104723718-104723719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535225315	chr14:104723792-104723793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4265746	chr14:104723823-104723824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs578184215	chr14:104723831-104723832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561125677	chr14:104723906-104723907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4304958	chr14:104723907-104723908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs377512381	chr14:104723910-104723911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112132112	chr14:104723930-104723931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4486819	chr14:104723939-104723940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182478353	chr14:104723946-104723947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559414585	chr14:104723966-104723967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4374098	chr14:104723973-104723974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544783211	chr14:104724117-104724118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565068081	chr14:104724155-104724156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530799873	chr14:104724187-104724188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142863670	chr14:104724315-104724316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186075018	chr14:104724333-104724334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10146425	chr14:104724365-104724366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562496390	chr14:104724384-104724385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533172367	chr14:104724426-104724427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529703260	chr14:104724455-104724456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556027062	chr14:104724478-104724479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546764304	chr14:104724501-104724502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566548613	chr14:104724518-104724519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528728473	chr14:104724561-104724562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114568179	chr14:104724566-104724567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571866830	chr14:104724622-104724623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537704767	chr14:104724623-104724624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374135148	chr14:104724625-104724626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4306437	chr14:104724637-104724638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4488388	chr14:104724643-104724644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555829358	chr14:104724757-104724758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547393543	chr14:104724835-104724836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536245403	chr14:104724879-104724880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553078401	chr14:104724889-104724890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567836207	chr14:104724922-104724923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144556878	chr14:104724954-104724955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189750107	chr14:104725031-104725032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180806071	chr14:104725058-104725059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575456715	chr14:104725116-104725117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104719600-104733800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr14:104720000-104728800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:104721600-104741400	Weak transcription	Fetal Lung	lung
4	chr14:104728800-104729600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104729200-104733000	Weak transcription	Right Atrium	heart
6	chr14:104729600-104732400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:104730200-104730400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr14:104730800-104731600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr14:104731200-104731400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:104731200-104731400	Enhancers	Fetal Muscle Leg	muscle
11	chr14:104731200-104731400	Bivalent Enhancer	Placenta	Placenta
12	chr14:104731400-104734200	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:104731400-104736600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:104731600-104732400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:104731600-104735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:104732400-104732800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr14:104732400-104732800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr14:104732400-104733800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr14:104732400-104734000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:104733200-104733400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:104733600-104733800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:104733600-104733800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:104733600-104733800	Enhancers	Gastric	stomach
24	chr14:104733600-104734000	Bivalent Enhancer	Fetal Brain Male	brain
25	chr14:104733600-104734000	Enhancers	Spleen	Spleen
26	chr14:104733600-104734400	Bivalent Enhancer	Fetal Kidney	kidney
27	chr14:104733600-104734800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr14:104733600-104735400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:104733800-104734000	Weak transcription	Thymus	Thymus
30	chr14:104733800-104734200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr14:104733800-104734400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr14:104733800-104735200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:104733800-104736000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:104734000-104734200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr14:104734000-104734400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:104734000-104734400	Enhancers	Fetal Brain Male	brain
37	chr14:104734000-104734600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr14:104734000-104735400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:104734000-104735400	Weak transcription	Spleen	Spleen
40	chr14:104734200-104734400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:104734200-104734400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr14:104734200-104734400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr14:104734200-104734600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr14:104734200-104734600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr14:104734200-104734600	Enhancers	Fetal Muscle Leg	muscle
46	chr14:104734200-104734600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr14:104734200-104734800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr14:104734200-104734800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr14:104734200-104734800	Active TSS	Ovary	ovary
50	chr14:104734200-104734800	Enhancers	HUVEC	blood vessel

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