Variant report

Variant	rs332855
Chromosome Location	chr19:38661480-38661481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:38661426-38661521	K562	blood:	n/a	n/a
2	POLR2A	chr19:38661422-38661631	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38660108..38661702-chr19:38665066..38666638,2	MCF-7	breast:

Variant related genes	Relation type
SIPA1L3	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10404957	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1654369	0.82[ASN][1000 genomes]
rs2005055	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2099340	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2384778	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2569412	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs332842	0.83[EUR][1000 genomes]
rs332843	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs332844	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs332848	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs332849	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs332850	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs332851	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs332856	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs332858	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs332864	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35932728	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4802251	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6508765	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs705507	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8100128	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8100144	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8101826	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8109695	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8109799	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111180	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8112798	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs855614	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs855632	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9941474	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38638200-38667200	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr19:38653400-38663400	Strong transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:38653600-38661600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:38653600-38663200	Strong transcription	Gastric	stomach
5	chr19:38653600-38663400	Weak transcription	HUVEC	blood vessel
6	chr19:38653600-38663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:38653600-38663800	Strong transcription	Fetal Intestine Large	intestine
8	chr19:38653600-38665200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:38653600-38668600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr19:38653600-38696400	Weak transcription	Small Intestine	intestine
11	chr19:38653800-38661600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:38653800-38661600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:38653800-38662400	Weak transcription	Brain Substantia Nigra	brain
14	chr19:38653800-38663600	Weak transcription	HMEC	breast
15	chr19:38653800-38663800	Strong transcription	Fetal Intestine Small	intestine
16	chr19:38653800-38664000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:38653800-38666600	Strong transcription	A549	lung
18	chr19:38653800-38670800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:38654000-38663000	Weak transcription	NHEK	skin
20	chr19:38654000-38664000	Strong transcription	Fetal Stomach	stomach
21	chr19:38654200-38661600	Strong transcription	Osteobl	bone
22	chr19:38655000-38661600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:38655200-38669400	Weak transcription	Fetal Lung	lung
24	chr19:38656200-38662200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:38656200-38662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:38656200-38663400	Weak transcription	HSMM	muscle
27	chr19:38656200-38664200	Weak transcription	HSMMtube	muscle
28	chr19:38656200-38664200	Weak transcription	NHDF-Ad	bronchial
29	chr19:38656200-38675200	Weak transcription	Stomach Mucosa	stomach
30	chr19:38656400-38662400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:38656400-38663800	Weak transcription	Right Ventricle	heart
32	chr19:38656400-38670400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr19:38656400-38670400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr19:38656400-38670800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:38656400-38671400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:38656400-38674000	Weak transcription	Colon Smooth Muscle	Colon
37	chr19:38656800-38669400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr19:38657400-38662400	Weak transcription	Brain Angular Gyrus	brain
39	chr19:38657400-38665800	Weak transcription	NHLF	lung
40	chr19:38657600-38662400	Weak transcription	Left Ventricle	heart
41	chr19:38657600-38673400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:38657600-38673800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:38657600-38696200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:38657800-38663600	Weak transcription	Colonic Mucosa	Colon
45	chr19:38657800-38669600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:38658400-38663200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr19:38658400-38674000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:38658400-38684800	Weak transcription	HepG2	liver
49	chr19:38658400-38694000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:38658600-38662400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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