Variant report

Variant	nsv579851
Chromosome Location	chr19:43920612-43955114
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:43936817..43937670-chr19:44023393..44024322,3	K562	blood:
2	chr19:43947823..43950572-chr19:43967998..43969717,2	MCF-7	breast:
3	chr19:43928435..43931381-chr19:43932773..43935782,3	K562	blood:
4	chr19:43950879..43951915-chr19:44023292..44024529,15	K562	blood:
5	chr19:43937678..43940228-chr19:44019604..44022571,2	MCF-7	breast:
6	chr19:43942400..43947044-chr19:43967250..43970389,5	MCF-7	breast:
7	chr19:43950463..43951811-chr19:44023286..44024411,8	MCF-7	breast:
8	chr19:43937119..43937651-chr19:44098505..44099433,2	MCF-7	breast:
9	chr19:43821071..43821590-chr19:43929652..43930334,2	MCF-7	breast:
10	chr19:43942702..43944453-chr19:44007455..44009598,2	MCF-7	breast:
11	chr19:43950829..43952315-chr19:44023277..44024591,13	MCF-7	breast:
12	chr19:43936721..43937673-chr19:43951109..43951816,2	MCF-7	breast:
13	chr19:43937232..43939100-chr19:44037778..44039902,2	MCF-7	breast:
14	chr19:43950949..43953195-chr19:44029676..44031859,2	MCF-7	breast:
15	chr19:43936721..43937673-chr19:43951109..43951816,2	MCF-7	breast:
16	chr19:43942729..43944786-chr19:43970636..43972210,2	MCF-7	breast:
17	chr19:43928435..43931381-chr19:43932773..43935782,3	K562	blood:
18	chr19:43951229..43953633-chr19:43981664..43984219,2	MCF-7	breast:
19	chr19:43949660..43952729-chr19:43966089..43969502,3	K562	blood:
20	chr19:43928535..43930747-chr19:43966422..43969412,2	MCF-7	breast:
21	chr19:43937028..43937653-chr19:43950851..43951764,3	MCF-7	breast:
22	chr19:43809862..43810443-chr19:43929397..43930009,2	MCF-7	breast:
23	chr19:43937158..43937719-chr19:44059063..44059904,2	K562	blood:
24	chr19:43937028..43937653-chr19:43950851..43951764,3	MCF-7	breast:
25	chr19:43820685..43821690-chr19:43929045..43930443,5	MCF-7	breast:
26	chr19:43950972..43953195-chr19:43955258..43957293,2	MCF-7	breast:
27	chr19:43936775..43937531-chr19:44023386..44024282,4	MCF-7	breast:
28	chr19:43949852..43952277-chr19:44156357..44158096,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124466	chromatin interactions
ENSG00000176531	chromatin interactions
ENSG00000105755	chromatin interactions

Extended variants
information (count: 1400 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1400 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35033974	chr19:43920612-43920613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377389343	chr19:43920620-43920621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111961433	chr19:43920621-43920622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147374764	chr19:43920622-43920623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139575901	chr19:43920624-43920625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61736284	chr19:43920637-43920638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201937290	chr19:43920639-43920640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144795192	chr19:43920653-43920654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572838169	chr19:43920670-43920671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144788229	chr19:43920703-43920704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192293408	chr19:43920745-43920746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369287037	chr19:43920757-43920758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150958011	chr19:43920832-43920833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575591906	chr19:43920854-43920855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544115850	chr19:43920887-43920888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185552115	chr19:43920898-43920899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529531075	chr19:43920902-43920903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540680868	chr19:43920952-43920953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190473326	chr19:43920997-43920998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527560439	chr19:43921035-43921036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529223585	chr19:43921048-43921049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548944430	chr19:43921090-43921091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180690822	chr19:43921121-43921122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2355989	chr19:43921146-43921147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184389065	chr19:43921159-43921160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367716641	chr19:43921183-43921184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373804556	chr19:43921227-43921228	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs571768522	chr19:43921228-43921229	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs566363479	chr19:43921246-43921247	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs546685343	chr19:43921249-43921250	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs142112984	chr19:43921261-43921262	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs2355990	chr19:43921285-43921286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555390110	chr19:43921375-43921376	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs200903495	chr19:43921470-43921471	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs575653444	chr19:43921486-43921487	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs10416367	chr19:43921596-43921597	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs114382544	chr19:43921656-43921657	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs577731899	chr19:43921689-43921690	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs144399842	chr19:43921826-43921827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560242832	chr19:43921858-43921859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573781544	chr19:43921926-43921927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542653850	chr19:43921974-43921975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562540457	chr19:43921986-43921987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373356810	chr19:43921989-43921990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531917855	chr19:43922056-43922057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147832314	chr19:43922060-43922061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3816438	chr19:43922061-43922062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs111753574	chr19:43922102-43922103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527860324	chr19:43922103-43922104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547991979	chr19:43922123-43922124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43919000-43937400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:43920200-43930000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:43920400-43921800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr19:43920800-43921600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr19:43920800-43921800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:43920800-43922000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr19:43921200-43921800	Bivalent Enhancer	HepG2	liver
8	chr19:43921400-43921600	Enhancers	Primary B cells from cord blood	blood
9	chr19:43921800-43929200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr19:43923800-43924200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:43923800-43925200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr19:43924000-43925400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr19:43924600-43925000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr19:43924800-43925000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr19:43925000-43925800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:43925000-43930000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:43925200-43925800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:43925400-43925800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:43925800-43926000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr19:43925800-43926000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr19:43925800-43926600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr19:43926000-43930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:43926400-43926800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:43926400-43926800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:43926800-43929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:43926800-43929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:43929200-43930000	Enhancers	Hela-S3	cervix
28	chr19:43929200-43931000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr19:43929200-43932000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr19:43929200-43932600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr19:43929400-43929800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:43929400-43929800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr19:43929400-43930000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:43929400-43930200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr19:43929400-43931200	Enhancers	Duodenum Mucosa	Duodenum
36	chr19:43929400-43931400	Enhancers	Stomach Mucosa	stomach
37	chr19:43929600-43929800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr19:43929600-43930000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr19:43929600-43930200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr19:43929600-43930200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:43929600-43930400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:43929600-43930400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:43929800-43930200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr19:43929800-43930200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr19:43929800-43930200	Enhancers	Stomach Smooth Muscle	stomach
46	chr19:43929800-43930400	Enhancers	Primary B cells from peripheral blood	blood
47	chr19:43929800-43930400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:43929800-43930600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:43930000-43930400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr19:43930000-43930400	Enhancers	H1 Cell Line	embryonic stem cell

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