Variant report

Variant	rs41355544
Chromosome Location	chr19:43023219-43023220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35241185	1.00[AMR][1000 genomes]
rs41415047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45584637	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43002200-43025200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:43003200-43030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr19:43003400-43028400	Weak transcription	Esophagus	oesophagus
4	chr19:43003400-43029400	Weak transcription	Small Intestine	intestine
5	chr19:43006200-43029800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:43010200-43024800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:43012200-43028200	Strong transcription	Liver	Liver
8	chr19:43013800-43032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:43014600-43024400	Weak transcription	Fetal Stomach	stomach
10	chr19:43015600-43030800	Weak transcription	Left Ventricle	heart
11	chr19:43015800-43025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:43016000-43032400	Weak transcription	Brain Anterior Caudate	brain
13	chr19:43016400-43025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:43016600-43023600	Weak transcription	Spleen	Spleen
15	chr19:43016600-43024200	Weak transcription	Colonic Mucosa	Colon
16	chr19:43016600-43024800	Weak transcription	Adipose Nuclei	Adipose
17	chr19:43016600-43029400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:43016600-43031800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:43017000-43025200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr19:43017200-43024200	Weak transcription	Primary B cells from cord blood	blood
21	chr19:43017400-43031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:43017800-43025600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:43018200-43030400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr19:43018600-43027200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:43019000-43029200	Weak transcription	Stomach Mucosa	stomach
26	chr19:43019400-43027000	Weak transcription	Placenta	Placenta
27	chr19:43020400-43030400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:43021400-43023600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
29	chr19:43021600-43026200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr19:43021800-43027400	Strong transcription	Fetal Intestine Large	intestine
31	chr19:43022000-43026600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:43022000-43028200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr19:43022000-43028400	Genic enhancers	HepG2	liver
34	chr19:43022200-43028600	Strong transcription	Fetal Intestine Small	intestine
35	chr19:43022400-43023600	Strong transcription	Lung	lung
36	chr19:43023000-43023600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:43023000-43023600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr19:43023000-43023600	Strong transcription	Pancreatic Islets	Pancreatic Islet
39	chr19:43023000-43025400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:43023000-43026200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:43023000-43026200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr19:43023000-43026400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr19:43023000-43027800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:43023200-43023400	Strong transcription	Gastric	stomach
45	chr19:43023200-43023600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:43023200-43023600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:43023200-43026200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:43023200-43026400	Strong transcription	Primary T cells from cord blood	blood
49	chr19:43023200-43027600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:43023200-43032400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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