Variant report

Variant	nsv525108
Chromosome Location	chr19:35577870-35589920
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:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35577914..35578633-chr19:35585871..35586856,2	K562	blood:
2	chr19:35581232..35583047-chr19:35586945..35589675,2	MCF-7	breast:
3	chr19:35588896..35592983-chr19:35603946..35607822,9	MCF-7	breast:
4	chr19:35580355..35585602-chr19:35613550..35616986,5	MCF-7	breast:
5	chr19:35577914..35578633-chr19:35585871..35586856,2	K562	blood:
6	chr19:35576238..35588046-chr19:35602523..35611687,25	MCF-7	breast:
7	chr19:35572347..35575062-chr19:35578237..35581062,2	K562	blood:
8	chr19:35581708..35583305-chr19:35584116..35585715,2	MCF-7	breast:
9	chr19:35577004..35579582-chr19:35584935..35587139,2	K562	blood:
10	chr19:35583635..35586288-chr19:35626706..35628411,2	MCF-7	breast:
11	chr19:35581708..35583305-chr19:35584116..35585715,2	MCF-7	breast:
12	chr19:35576917..35579149-chr19:35607509..35611279,4	MCF-7	breast:
13	chr19:35568285..35570612-chr19:35575218..35577973,3	MCF-7	breast:
14	chr19:35558068..35558861-chr19:35581091..35581986,3	MCF-7	breast:
15	chr19:35581232..35583047-chr19:35586945..35589675,2	MCF-7	breast:
16	chr19:35562050..35566903-chr19:35581624..35584228,4	K562	blood:
17	chr19:35581971..35584009-chr19:35587170..35589088,2	K562	blood:
18	chr19:35577004..35579582-chr19:35584935..35587139,2	K562	blood:
19	chr19:35589524..35591254-chr19:35593014..35595078,2	MCF-7	breast:
20	chr19:35582008..35584098-chr19:35612317..35614523,2	MCF-7	breast:
21	chr19:35582815..35587098-chr19:35604847..35609330,8	MCF-7	breast:
22	chr19:35579665..35581490-chr19:35613218..35615753,2	MCF-7	breast:
23	chr19:35488725..35490801-chr19:35579690..35581562,2	MCF-7	breast:
24	chr1:156426961..156427745-chr19:35584961..35585461,2	Hela-S3	cervix:
25	chr19:35581971..35584009-chr19:35587170..35589088,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC020907.3-1	chr19:35577860-35578004	ENSG00000227392.1

No data

Variant related genes	Relation type
ENSG00000089356	chromatin interactions
ENSG00000089351	chromatin interactions

Extended variants
information (count: 459 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7250814	chr19:35577870-35577871	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554243518	chr19:35577878-35577879	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs572112578	chr19:35577890-35577891	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs376326214	chr19:35577901-35577902	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs574236614	chr19:35577917-35577918	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs533506551	chr19:35578026-35578027	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553356442	chr19:35578054-35578055	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17718894	chr19:35578055-35578056	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144950377	chr19:35578071-35578072	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565471215	chr19:35578089-35578090	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191075412	chr19:35578207-35578208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546091926	chr19:35578213-35578214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550496505	chr19:35578262-35578263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182944547	chr19:35578279-35578280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530226697	chr19:35578283-35578284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148553498	chr19:35578357-35578358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560552001	chr19:35578410-35578411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144420346	chr19:35578450-35578451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77115335	chr19:35578491-35578492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569103820	chr19:35578604-35578605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531396086	chr19:35578606-35578607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146617694	chr19:35578669-35578670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567772314	chr19:35578688-35578689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533664954	chr19:35578708-35578709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs746931	chr19:35578711-35578712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559344066	chr19:35578794-35578795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529754178	chr19:35578810-35578811	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76446194	chr19:35578828-35578829	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374817509	chr19:35578855-35578856	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112846959	chr19:35578923-35578924	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566588617	chr19:35578932-35578933	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533635194	chr19:35578980-35578981	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74258113	chr19:35579001-35579002	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs33911863	chr19:35579002-35579003	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539087998	chr19:35579101-35579102	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187205177	chr19:35579134-35579135	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552962328	chr19:35579146-35579147	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12460459	chr19:35579161-35579162	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2862232	chr19:35579238-35579239	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73041927	chr19:35579251-35579252	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145188182	chr19:35579286-35579287	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535486285	chr19:35579297-35579298	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532535798	chr19:35579304-35579305	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553736986	chr19:35579316-35579317	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373648941	chr19:35579317-35579318	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545921130	chr19:35579353-35579354	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562765046	chr19:35579396-35579397	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531507802	chr19:35579422-35579423	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547955525	chr19:35579544-35579545	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567927483	chr19:35579579-35579580	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pleomorphic liposarcoma	18784837	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	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	18160780	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35560600-35581600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:35572000-35582200	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:35573800-35579800	Enhancers	Primary B cells from cord blood	blood
4	chr19:35574200-35579600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:35574800-35579000	Weak transcription	Liver	Liver
6	chr19:35575200-35581000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:35575400-35578800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:35575600-35578000	Enhancers	Fetal Muscle Leg	muscle
9	chr19:35575600-35579000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr19:35575600-35579200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:35575600-35579200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:35575600-35581200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:35576200-35578000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr19:35576200-35580600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr19:35576400-35578400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr19:35576600-35578200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr19:35576600-35578400	Enhancers	Brain Angular Gyrus	brain
18	chr19:35576600-35579400	Enhancers	Brain Hippocampus Middle	brain
19	chr19:35576800-35579200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:35576800-35579800	Enhancers	Brain Cingulate Gyrus	brain
21	chr19:35577000-35578000	Enhancers	HSMM	muscle
22	chr19:35577200-35579800	Enhancers	Brain Substantia Nigra	brain
23	chr19:35577400-35578000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:35577400-35578200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr19:35577400-35581200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:35577600-35578200	Enhancers	GM12878-XiMat	blood
27	chr19:35577600-35579000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:35577600-35581200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:35577800-35579000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:35577800-35579200	Weak transcription	HSMMtube	muscle
31	chr19:35577800-35581200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr19:35577800-35581200	Weak transcription	Brain Anterior Caudate	brain
33	chr19:35577800-35581600	Weak transcription	Spleen	Spleen
34	chr19:35578000-35579000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:35578000-35579000	Weak transcription	HSMM	muscle
36	chr19:35578000-35579200	Weak transcription	Fetal Muscle Leg	muscle
37	chr19:35578200-35579200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:35578200-35581200	Weak transcription	GM12878-XiMat	blood
39	chr19:35578400-35578800	Weak transcription	Brain Angular Gyrus	brain
40	chr19:35578800-35579600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr19:35578800-35579600	Bivalent Enhancer	HepG2	liver
42	chr19:35578800-35580000	Enhancers	Brain Angular Gyrus	brain
43	chr19:35578800-35580400	Enhancers	Placenta	Placenta
44	chr19:35579000-35579200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr19:35579000-35579400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:35579000-35579600	Enhancers	Fetal Intestine Large	intestine
47	chr19:35579000-35579800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:35579000-35579800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:35579000-35579800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:35579000-35579800	Enhancers	Fetal Intestine Small	intestine

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