Variant report

Variant	esv3407670
Chromosome Location	chr19:35818952-35819313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:35818840-35818990	NHDF-neo	bronchial:	n/a	n/a
2	CTCF	chr19:35818555-35819051	MCF-7	breast:	n/a	n/a
3	CTCF	chr19:35818566-35818977	K562	blood:	n/a	n/a
4	CTCF	chr19:35818458-35819094	K562	blood:	n/a	n/a
5	CTCF	chr19:35818548-35818970	K562	blood:	n/a	n/a
6	CTCF	chr19:35818680-35818970	A549	lung:	n/a	n/a
7	CTCF	chr19:35818530-35819033	MCF-7	breast:	n/a	n/a
8	CTCF	chr19:35818567-35818959	K562	blood:	n/a	n/a
9	CTCF	chr19:35817105-35819140	A549	lung:	n/a	n/a
10	RAD21	chr19:35818520-35819066	A549	lung:	n/a	n/a
11	RAD21	chr19:35818547-35818977	A549	lung:	n/a	n/a
12	RAD21	chr19:35818546-35819014	MCF-7	breast:	n/a	n/a
13	RAD21	chr19:35818605-35819087	MCF-7	breast:	n/a	n/a
14	RCOR1	chr19:35818578-35818955	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:35757401..35760609-chr19:35817502..35820242,3	MCF-7	breast:
2	chr19:35808879..35811383-chr19:35819038..35823207,3	K562	blood:
3	chr19:35759820..35760630-chr19:35818301..35819272,2	MCF-7	breast:
4	chr19:35758155..35760598-chr19:35818136..35820258,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269553	TF binding region
CD22	TF binding region
ENSG00000012124	chromatin interactions
ENSG00000105698	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60999256	chr19:35818965-35818966	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs201354735	chr19:35818966-35818967	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201358426	chr19:35818967-35818968	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs199990826	chr19:35818968-35818969	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs1894308	chr19:35819002-35819003	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538670606	chr19:35819009-35819010	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs192629466	chr19:35819094-35819095	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs374120713	chr19:35819097-35819098	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs5827928	chr19:35819120-35819121	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs565471245	chr19:35819185-35819186	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs1894309	chr19:35819207-35819208	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184793247	chr19:35819225-35819226	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554797832	chr19:35819240-35819241	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188376984	chr19:35819246-35819247	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529036650	chr19:35819278-35819279	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147535740	chr19:35819281-35819282	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs143023705	chr19:35819282-35819283	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs59160862	chr19:35819284-35819285	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4806128	chr19:35819285-35819286	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374313306	chr19:35819303-35819304	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs59691248	chr19:35819305-35819306	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs7507226	chr19:35819306-35819307	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs375939174	chr19:35819310-35819311	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35810400-35835200	Weak transcription	Fetal Lung	lung
2	chr19:35811600-35832200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:35812000-35819600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:35812000-35820000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:35812200-35819400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:35813400-35819800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr19:35814600-35819600	Enhancers	Primary B cells from cord blood	blood
8	chr19:35815400-35819600	Enhancers	Primary B cells from peripheral blood	blood
9	chr19:35815400-35819800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr19:35815600-35819600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:35816800-35819600	Weak transcription	GM12878-XiMat	blood
12	chr19:35817600-35844000	Weak transcription	Brain Angular Gyrus	brain
13	chr19:35818000-35819600	Weak transcription	Ovary	ovary
14	chr19:35818000-35820000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:35818000-35820400	Weak transcription	Brain Hippocampus Middle	brain
16	chr19:35818400-35819600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr19:35818400-35820600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr19:35818400-35821600	Strong transcription	Brain Substantia Nigra	brain
19	chr19:35818600-35819600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:35818800-35819200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:35818800-35820000	Weak transcription	Spleen	Spleen
22	chr19:35818800-35821400	Weak transcription	K562	blood
23	chr19:35818800-35823600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:35818800-35836600	Weak transcription	Brain Anterior Caudate	brain
25	chr19:35819200-35819600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:35819200-35820000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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