Variant report

Variant	esv1366716
Chromosome Location	chr19:55608328-55608454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr19:55608008-55609133	A549	lung:	n/a	n/a
2	POLR2A	chr19:55607965-55609131	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:55608097-55609120	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:55608347-55608777	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:55608387-55608782	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:55608264-55609035	A549	lung:	n/a	n/a
7	POLR2A	chr19:55608433-55608737	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:55608249-55609010	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:55608006-55609100	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:55608438-55608709	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:55608049-55609093	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:55608001-55609101	A549	lung:	n/a	n/a
13	POLR2A	chr19:55608020-55609113	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:55608368-55608905	K562	blood:	n/a	n/a
15	POLR2A	chr19:55607995-55609121	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:55608383-55608711	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr19:55608005-55609181	GM12891	blood:	n/a	n/a
18	POLR2A	chr19:55608419-55608557	ProgFib	skin:	n/a	n/a
19	POLR2A	chr19:55608246-55608424	K562	blood:	n/a	n/a
20	REST	chr19:55608043-55608408	PANC-1	pancreas:	n/a	chr19:55608049-55608062

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:55602817..55605063-chr19:55607847..55611978,5	K562	blood:
2	chr19:55606533..55609893-chr19:55627288..55629671,4	MCF-7	breast:
3	chr19:55591561..55594163-chr19:55604044..55608526,4	K562	blood:
4	chr19:55593783..55596973-chr19:55605739..55609072,3	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1R12C	TF binding region
ENSG00000125503	chromatin interactions
ENSG00000131037	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11672675	chr19:55608329-55608330	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs62124200	chr19:55608354-55608355	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs112303742	chr19:55608361-55608362	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs67395660	chr19:55608371-55608372	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs111960953	chr19:55608372-55608373	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs111365066	chr19:55608387-55608388	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs79964275	chr19:55608393-55608394	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs565087423	chr19:55608396-55608397	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs62124201	chr19:55608401-55608402	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs113852915	chr19:55608425-55608426	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs202003479	chr19:55608434-55608435	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs372611347	chr19:55608435-55608436	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung squamous cell carcinoma	20842114	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55593800-55620400	Weak transcription	HMEC	breast
2	chr19:55599200-55626600	Weak transcription	Fetal Kidney	kidney
3	chr19:55599200-55627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:55599400-55614800	Weak transcription	GM12878-XiMat	blood
5	chr19:55599800-55626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:55600000-55610600	Weak transcription	NHDF-Ad	bronchial
7	chr19:55600000-55612800	Weak transcription	HSMMtube	muscle
8	chr19:55600000-55613400	Weak transcription	Fetal Lung	lung
9	chr19:55600000-55613800	Weak transcription	NH-A	brain
10	chr19:55600000-55614600	Weak transcription	HSMM	muscle
11	chr19:55600000-55626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:55600000-55627000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:55600200-55609800	Weak transcription	Stomach Mucosa	stomach
14	chr19:55600200-55610800	Strong transcription	NHLF	lung
15	chr19:55600200-55612600	Weak transcription	K562	blood
16	chr19:55600200-55614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:55600600-55614600	Weak transcription	HUVEC	blood vessel
18	chr19:55601400-55611000	Weak transcription	Right Atrium	heart
19	chr19:55601400-55626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:55601800-55609800	Strong transcription	Colonic Mucosa	Colon
21	chr19:55602000-55613800	Strong transcription	Gastric	stomach
22	chr19:55602000-55615400	Strong transcription	Lung	lung
23	chr19:55602000-55618400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:55602800-55614200	Weak transcription	Psoas Muscle	Psoas
25	chr19:55602800-55626400	Weak transcription	Hela-S3	cervix
26	chr19:55603600-55609400	Weak transcription	NHEK	skin
27	chr19:55603800-55612600	Weak transcription	Small Intestine	intestine
28	chr19:55604000-55608400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:55605600-55610000	Strong transcription	Brain Hippocampus Middle	brain
30	chr19:55605600-55614400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:55605800-55609400	Strong transcription	Right Ventricle	heart
32	chr19:55606400-55609200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:55606400-55609400	Weak transcription	A549	lung
34	chr19:55606400-55613600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:55606400-55613800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr19:55606400-55621600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr19:55606600-55610800	Weak transcription	Fetal Heart	heart
38	chr19:55606600-55612600	Weak transcription	Brain Substantia Nigra	brain
39	chr19:55606600-55614000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:55606600-55614200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr19:55606600-55627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:55606800-55609200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr19:55606800-55609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:55606800-55609400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:55606800-55613200	Weak transcription	Brain Angular Gyrus	brain
46	chr19:55606800-55613800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr19:55607000-55609200	Weak transcription	Primary T cells from cord blood	blood
48	chr19:55607000-55609200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr19:55607000-55609200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr19:55607000-55609400	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links