Variant report

Variant	esv3489738
Chromosome Location	chr19:56604158-56604354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56603039..56605277-chr19:56607170..56609426,2	MCF-7	breast:
2	chr19:56603070..56605963-chr19:56628065..56630329,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 65 )

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	rs73934666	chr19:56604170-56604171	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143468702	chr19:56604178-56604179	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs558531354	chr19:56604205-56604206	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs114188431	chr19:56604215-56604216	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114953713	chr19:56604218-56604219	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371662931	chr19:56604219-56604220	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs190631630	chr19:56604248-56604249	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184202340	chr19:56604254-56604255	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376592720	chr19:56604292-56604293	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188703971	chr19:56604307-56604308	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs527409112	chr19:56604319-56604320	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs547386454	chr19:56604352-56604353	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	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
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
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
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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56592600-56620000	Weak transcription	HSMMtube	muscle
2	chr19:56592800-56622600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:56593000-56606400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr19:56593000-56616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:56593000-56616600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:56593000-56616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:56593600-56616000	Weak transcription	Stomach Mucosa	stomach
9	chr19:56594800-56616800	Weak transcription	HUVEC	blood vessel
10	chr19:56596400-56605400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:56596600-56604200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:56596600-56604400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:56596600-56604600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:56596600-56614800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:56597200-56619400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:56598000-56605400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:56598200-56604800	Strong transcription	Gastric	stomach
18	chr19:56598800-56604600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:56599800-56605400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr19:56599800-56615200	Strong transcription	Liver	Liver
21	chr19:56600000-56604200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:56600000-56604600	Strong transcription	Primary T cells from cord blood	blood
23	chr19:56600000-56619000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:56600400-56604800	Weak transcription	Aorta	Aorta
25	chr19:56600400-56614400	Strong transcription	HepG2	liver
26	chr19:56600600-56604200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:56600600-56609000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:56600800-56604800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:56600800-56616800	Weak transcription	Small Intestine	intestine
30	chr19:56601000-56604800	Weak transcription	Ovary	ovary
31	chr19:56601000-56607000	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:56601200-56604200	Enhancers	Brain Hippocampus Middle	brain
33	chr19:56601400-56604400	Weak transcription	Primary B cells from cord blood	blood
34	chr19:56601400-56604600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:56601400-56612000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:56601600-56604400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr19:56601600-56611800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr19:56601800-56604800	Weak transcription	Colonic Mucosa	Colon
39	chr19:56602200-56604200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr19:56602400-56604200	Flanking Active TSS	HMEC	breast
41	chr19:56602400-56605600	ZNF genes & repeats	Fetal Brain Female	brain
42	chr19:56602400-56606800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:56602600-56610200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr19:56602800-56604200	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr19:56602800-56605200	Genic enhancers	Spleen	Spleen
46	chr19:56602800-56608200	Weak transcription	Fetal Heart	heart
47	chr19:56602800-56614400	ZNF genes & repeats	Fetal Stomach	stomach
48	chr19:56602800-56620000	Weak transcription	NH-A	brain
49	chr19:56603000-56604600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:56603000-56604800	Weak transcription	NHLF	lung

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