Variant report

Variant	nsv566037
Chromosome Location	chr14:104721526-104780294
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	chr14:104736178..104738016-chr14:104740822..104743657,2	MCF-7	breast:
2	chr14:104747907..104749438-chr14:104962689..104965288,2	K562	blood:
3	chr14:104747853..104750552-chr14:104755271..104758240,2	MCF-7	breast:
4	chr14:104772029..104774740-chr14:104807798..104809607,2	K562	blood:
5	chr14:104769312..104770225-chr14:104779545..104780136,2	MCF-7	breast:
6	chr14:104603676..104604415-chr14:104760235..104760804,2	MCF-7	breast:
7	chr14:104736178..104738016-chr14:104740822..104743657,2	MCF-7	breast:
8	chr14:104773211..104774845-chr14:104779810..104781331,2	MCF-7	breast:
9	chr14:104773211..104774845-chr14:104779810..104781331,2	MCF-7	breast:
10	chr14:104762292..104764129-chr14:104770564..104772247,2	MCF-7	breast:
11	chr14:104651259..104651765-chr14:104760560..104761404,2	MCF-7	breast:
12	chr14:104756389..104758056-chr14:104758774..104761093,2	MCF-7	breast:
13	chr14:104728779..104730960-chr14:104733381..104735361,2	K562	blood:
14	chr14:104603795..104604545-chr14:104760161..104761480,5	MCF-7	breast:
15	chr14:104756389..104758056-chr14:104758774..104761093,2	MCF-7	breast:
16	chr14:104746362..104748538-chr14:104754609..104757132,3	MCF-7	breast:
17	chr14:104746362..104748538-chr14:104754609..104757132,3	MCF-7	breast:
18	chr14:104722882..104724563-chr14:104724745..104727407,2	MCF-7	breast:
19	chr14:104575830..104578279-chr14:104758176..104760324,2	MCF-7	breast:
20	chr14:104762292..104764129-chr14:104770564..104772247,2	MCF-7	breast:
21	chr14:104760654..104761549-chr14:104836417..104836978,2	MCF-7	breast:
22	chr14:104728779..104730960-chr14:104733381..104735361,2	K562	blood:
23	chr14:104723993..104726216-chr14:104758223..104760086,2	K562	blood:
24	chr14:104768093..104769693-chr14:104774112..104776117,2	MCF-7	breast:
25	chr14:104756422..104758689-chr14:104761247..104763793,2	MCF-7	breast:
26	chr14:104756422..104758689-chr14:104761247..104763793,2	MCF-7	breast:
27	chr14:104768093..104769693-chr14:104774112..104776117,2	MCF-7	breast:
28	chr14:104623348..104624079-chr14:104760154..104761091,2	MCF-7	breast:
29	chr14:104747853..104750552-chr14:104755271..104758240,2	MCF-7	breast:
30	chr14:104723993..104726216-chr14:104758223..104760086,2	K562	blood:
31	chr14:104750633..104755093-chr14:104756730..104760416,4	MCF-7	breast:
32	chr14:104600334..104603089-chr14:104739484..104741726,2	MCF-7	breast:
33	chr14:104750633..104755093-chr14:104756730..104760416,4	MCF-7	breast:
34	chr14:104769312..104770225-chr14:104779545..104780136,2	MCF-7	breast:
35	chr14:104617545..104619541-chr14:104760413..104762032,2	MCF-7	breast:
36	chr14:104722882..104724563-chr14:104724745..104727407,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000258748	chromatin interactions
ENSG00000166183	chromatin interactions

Extended variants
information (count: 2880 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2880 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8016595	chr14:104721526-104721527	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542118340	chr14:104721541-104721542	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs188881358	chr14:104721569-104721570	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs562360006	chr14:104721632-104721633	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs527735080	chr14:104721635-104721636	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs114230584	chr14:104721664-104721665	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs369837970	chr14:104721677-104721678	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs193235940	chr14:104721698-104721699	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs368072206	chr14:104721709-104721710	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs549951005	chr14:104721732-104721733	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs184765048	chr14:104721771-104721772	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs73364240	chr14:104721789-104721790	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529074318	chr14:104721792-104721793	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs548909592	chr14:104721843-104721844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533856762	chr14:104721895-104721896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576687656	chr14:104721907-104721908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12892201	chr14:104721933-104721934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12892213	chr14:104721953-104721954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71419831	chr14:104721956-104721957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12896264	chr14:104721959-104721960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71129220	chr14:104721965-104721966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188359483	chr14:104721970-104721971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28759203	chr14:104721991-104721992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28369522	chr14:104722010-104722011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28695450	chr14:104722019-104722020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534348473	chr14:104722041-104722042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557299407	chr14:104722055-104722056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547274935	chr14:104722097-104722098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571033252	chr14:104722174-104722175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71419832	chr14:104722187-104722188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71419833	chr14:104722202-104722203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536703357	chr14:104722210-104722211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373325269	chr14:104722214-104722215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529221180	chr14:104722217-104722218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138483688	chr14:104722225-104722226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191275351	chr14:104722278-104722279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116478283	chr14:104722331-104722332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556124948	chr14:104722345-104722346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141375957	chr14:104722357-104722358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35546427	chr14:104722370-104722371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567378671	chr14:104722373-104722374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72322820	chr14:104722374-104722375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74087289	chr14:104722379-104722380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184324024	chr14:104722403-104722404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543590614	chr14:104722458-104722459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563797880	chr14:104722463-104722464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189839833	chr14:104722467-104722468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145119980	chr14:104722508-104722509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148341492	chr14:104722565-104722566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35832611	chr14:104722600-104722601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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

Chromatin state (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104718800-104721800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr14:104718800-104721800	Enhancers	Fetal Muscle Leg	muscle
3	chr14:104719600-104733800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:104720000-104728800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104720800-104721600	Weak transcription	Fetal Brain Female	brain
6	chr14:104721000-104721600	Enhancers	Fetal Lung	lung
7	chr14:104721000-104721600	Bivalent Enhancer	Fetal Stomach	stomach
8	chr14:104721000-104722000	Enhancers	Fetal Brain Male	brain
9	chr14:104721600-104721800	Enhancers	Fetal Brain Female	brain
10	chr14:104721600-104741400	Weak transcription	Fetal Lung	lung
11	chr14:104728800-104729600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:104729200-104733000	Weak transcription	Right Atrium	heart
13	chr14:104729600-104732400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:104730200-104730400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr14:104730800-104731600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr14:104731200-104731400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:104731200-104731400	Enhancers	Fetal Muscle Leg	muscle
18	chr14:104731200-104731400	Bivalent Enhancer	Placenta	Placenta
19	chr14:104731400-104734200	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:104731400-104736600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:104731600-104732400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:104731600-104735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:104732400-104732800	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr14:104732400-104732800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr14:104732400-104733800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr14:104732400-104734000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:104733200-104733400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:104733600-104733800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:104733600-104733800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:104733600-104733800	Enhancers	Gastric	stomach
31	chr14:104733600-104734000	Bivalent Enhancer	Fetal Brain Male	brain
32	chr14:104733600-104734000	Enhancers	Spleen	Spleen
33	chr14:104733600-104734400	Bivalent Enhancer	Fetal Kidney	kidney
34	chr14:104733600-104734800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:104733600-104735400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:104733800-104734000	Weak transcription	Thymus	Thymus
37	chr14:104733800-104734200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr14:104733800-104734400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:104733800-104735200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:104733800-104736000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr14:104734000-104734200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr14:104734000-104734400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:104734000-104734400	Enhancers	Fetal Brain Male	brain
44	chr14:104734000-104734600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr14:104734000-104735400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:104734000-104735400	Weak transcription	Spleen	Spleen
47	chr14:104734200-104734400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:104734200-104734400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr14:104734200-104734400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr14:104734200-104734600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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