Variant report

Variant	esv3391904
Chromosome Location	chr19:56768905-56769539
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	chr19:56763438..56764980-chr19:56767122..56769734,2	K562	blood:
2	chr19:56768465..56770206-chr19:56776029..56778555,2	K562	blood:

Variant related genes	Relation type
ENSG00000131848	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532674776	chr19:56768922-56768923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552571527	chr19:56768929-56768930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111580178	chr19:56768937-56768938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201800313	chr19:56768987-56768988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189394093	chr19:56768994-56768995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113575041	chr19:56768997-56768998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536941612	chr19:56768998-56768999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181370248	chr19:56769030-56769031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567333423	chr19:56769069-56769070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111396055	chr19:56769099-56769100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371567696	chr19:56769110-56769111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs8106150	chr19:56769138-56769139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10412659	chr19:56769142-56769143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376935085	chr19:56769170-56769171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572568141	chr19:56769172-56769173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372971821	chr19:56769193-56769194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544710723	chr19:56769243-56769244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112100077	chr19:56769254-56769255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs58647019	chr19:56769264-56769265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61711882	chr19:56769265-56769266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375972182	chr19:56769293-56769294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs56067313	chr19:56769303-56769304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs59907095	chr19:56769327-56769328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs8106391	chr19:56769337-56769338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575249812	chr19:56769338-56769339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs58263854	chr19:56769356-56769357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs58872079	chr19:56769363-56769364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs36031183	chr19:56769365-56769366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370601904	chr19:56769366-56769367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544572087	chr19:56769396-56769397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112761202	chr19:56769398-56769399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4479361	chr19:56769408-56769409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575064651	chr19:56769409-56769410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34188325	chr19:56769430-56769431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540801928	chr19:56769431-56769432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373983511	chr19:56769437-56769438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370133368	chr19:56769497-56769498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73621069	chr19:56769502-56769503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567980839	chr19:56769515-56769516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543254646	chr19:56769524-56769525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562729820	chr19:56769526-56769527	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150821896	chr19:56769536-56769537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
2	chr19:56735400-56774400	Weak transcription	Primary T cells from cord blood	blood
3	chr19:56747600-56781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:56751000-56776400	Weak transcription	Lung	lung
5	chr19:56753000-56809000	Weak transcription	Gastric	stomach
6	chr19:56764200-56773800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:56764200-56788400	Weak transcription	A549	lung
8	chr19:56764400-56774400	Weak transcription	Left Ventricle	heart
9	chr19:56764400-56788400	Weak transcription	Fetal Muscle Leg	muscle
10	chr19:56764400-56788600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr19:56764400-56798600	Weak transcription	Placenta	Placenta
12	chr19:56764600-56769600	Weak transcription	Spleen	Spleen
13	chr19:56764600-56769800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:56764600-56788200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:56764600-56799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:56764600-56804000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:56764800-56774600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr19:56765000-56788400	Weak transcription	Brain Anterior Caudate	brain
19	chr19:56765200-56769400	Weak transcription	K562	blood
20	chr19:56766600-56804200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr19:56767400-56782400	Weak transcription	Fetal Kidney	kidney
22	chr19:56768000-56769600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:56768000-56772200	Weak transcription	Thymus	Thymus
24	chr19:56768200-56769800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:56768400-56782000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:56768600-56777200	Weak transcription	Fetal Lung	lung
27	chr19:56768600-56794800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:56768800-56769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:56768800-56783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:56769000-56782200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:56769200-56788400	Weak transcription	Adipose Nuclei	Adipose
32	chr19:56769400-56769600	Enhancers	K562	blood

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