Variant report

Variant	nsv820069
Chromosome Location	chr19:42654429-42657475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42657320-42657470	HepG2	liver:	n/a	n/a
2	MYC	chr19:42657375-42657426	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr19:42657473-42657521	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:42655799-42655824	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:42656018-42656037	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:42655888-42655898	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:42655166-42655229	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42652766..42655502-chr19:42672644..42674234,2	MCF-7	breast:
2	chr19:42637467..42639958-chr19:42655393..42657223,2	K562	blood:
3	chr19:42657429..42659835-chr19:42663396..42665628,2	K562	blood:
4	chr19:42650733..42654783-chr19:42655622..42659821,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF526-1	chr19:42656721-42656858	ENSG00000249075

No data

Variant related genes	Relation type
ENSG00000259436	TF binding region
ENSG00000266226	chromatin interactions
ENSG00000259436	chromatin interactions
ENSG00000254887	chromatin interactions
SOCS2	miRNA target sites

Extended variants
information (count: 101 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71361004	chr19:42654438-42654439	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148956700	chr19:42654441-42654442	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115123972	chr19:42654442-42654443	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560809345	chr19:42654443-42654444	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145731795	chr19:42654471-42654472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71361005	chr19:42654502-42654503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73932874	chr19:42654555-42654556	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565074819	chr19:42654699-42654700	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191699156	chr19:42654750-42654751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182851837	chr19:42654760-42654761	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545084655	chr19:42654791-42654792	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113232113	chr19:42654905-42654906	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114699142	chr19:42654923-42654924	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs138313110	chr19:42654942-42654943	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs113496381	chr19:42654953-42654954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549699228	chr19:42654975-42654976	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567930427	chr19:42654984-42654985	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538450057	chr19:42655104-42655105	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs556516725	chr19:42655166-42655167	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs141244775	chr19:42655209-42655210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs73552838	chr19:42655210-42655211	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs553840935	chr19:42655217-42655218	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs572118078	chr19:42655234-42655235	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs117975636	chr19:42655304-42655305	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560872042	chr19:42655306-42655307	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373171478	chr19:42655321-42655322	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs543679428	chr19:42655365-42655366	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564980222	chr19:42655379-42655380	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs117285798	chr19:42655400-42655401	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547182334	chr19:42655515-42655516	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs559442101	chr19:42655537-42655538	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs529734659	chr19:42655538-42655539	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545652140	chr19:42655569-42655570	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555577175	chr19:42655570-42655571	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs548175357	chr19:42655602-42655603	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569655952	chr19:42655605-42655606	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538184741	chr19:42655615-42655616	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs550447386	chr19:42655616-42655617	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564124192	chr19:42655641-42655642	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs571791603	chr19:42655658-42655659	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs539185991	chr19:42655727-42655728	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs144973244	chr19:42655738-42655739	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187926863	chr19:42655818-42655819	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs192170489	chr19:42655848-42655849	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369999507	chr19:42655868-42655869	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs112320846	chr19:42655896-42655897	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576379785	chr19:42655924-42655925	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs185876263	chr19:42655930-42655931	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376310666	chr19:42655962-42655963	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs73932875	chr19:42655986-42655987	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42637600-42658200	Weak transcription	Right Atrium	heart
2	chr19:42640200-42659400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:42652600-42658800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:42653000-42656000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:42653200-42655000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:42653200-42661200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:42653400-42655800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr19:42653400-42656400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr19:42653600-42655800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr19:42653600-42656400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr19:42653600-42659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:42653800-42656400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:42653800-42657400	Enhancers	Fetal Brain Female	brain
14	chr19:42653800-42658000	Enhancers	Pancreas	Pancrea
15	chr19:42653800-42658600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:42653800-42658600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:42653800-42660600	Enhancers	Fetal Brain Male	brain
18	chr19:42654000-42654600	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr19:42654000-42656400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:42654200-42655000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:42654200-42656400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr19:42654200-42657800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:42654200-42658600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr19:42654400-42654600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:42654400-42654800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:42654400-42654800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr19:42654400-42655400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:42654400-42655600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr19:42654400-42656200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr19:42654400-42658400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:42654400-42658400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:42654600-42654800	Enhancers	Brain Germinal Matrix	brain
33	chr19:42654600-42656200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:42654800-42655200	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr19:42654800-42656200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:42654800-42658000	Enhancers	Liver	Liver
37	chr19:42655000-42655200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:42655000-42655600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:42655000-42655800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:42655000-42656000	Enhancers	A549	lung
41	chr19:42655000-42656400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr19:42655000-42656400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr19:42655000-42656400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr19:42655200-42655400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:42655200-42655800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:42655200-42657400	Enhancers	Brain Germinal Matrix	brain
47	chr19:42655400-42656200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr19:42655400-42656400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr19:42655600-42656000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr19:42655600-42657800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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