Variant report

Variant	rs56955865
Chromosome Location	chr13:48838006-48838007
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1002865	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11556899	0.87[ASN][1000 genomes]
rs12584784	0.83[AMR][1000 genomes]
rs3092898	0.83[AMR][1000 genomes]
rs34692420	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56835880	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60372626	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61683759	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73485077	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73485079	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73487044	0.87[ASN][1000 genomes]
rs73487048	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487051	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487055	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487056	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487058	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73495016	0.83[AMR][1000 genomes]
rs7983535	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7986777	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7993670	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7996717	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7999809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002352	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8002765	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9332246	0.87[ASN][1000 genomes]
rs9332278	0.82[ASN][1000 genomes]
rs9332285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332304	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9595874	0.87[ASN][1000 genomes]
rs9595875	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:48810800-48841000	Weak transcription	Hela-S3	cervix
3	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr13:48825400-48841200	Strong transcription	Fetal Thymus	thymus
5	chr13:48825400-48844400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr13:48826200-48840000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:48826400-48841200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:48826800-48842000	Weak transcription	K562	blood
9	chr13:48827400-48840200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr13:48827600-48838800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:48827600-48839000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:48827600-48839800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:48827600-48839800	Strong transcription	Dnd41	blood
14	chr13:48827600-48841000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:48827600-48843600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:48827800-48838200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr13:48827800-48839800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:48827800-48839800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:48827800-48840800	Strong transcription	Placenta	Placenta
20	chr13:48827800-48843800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:48828000-48838600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr13:48828000-48838800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr13:48828000-48840400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr13:48828200-48839000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:48828200-48840000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:48828400-48838400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:48828600-48840200	Strong transcription	Adipose Nuclei	Adipose
28	chr13:48828600-48845800	Weak transcription	Stomach Mucosa	stomach
29	chr13:48828800-48840800	Strong transcription	Liver	Liver
30	chr13:48829000-48839800	Strong transcription	Fetal Lung	lung
31	chr13:48829800-48843400	Weak transcription	Spleen	Spleen
32	chr13:48830000-48838400	Strong transcription	Osteobl	bone
33	chr13:48830800-48840800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:48831200-48841200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr13:48832800-48845200	Weak transcription	Fetal Intestine Small	intestine
36	chr13:48833000-48838200	Strong transcription	Fetal Intestine Large	intestine
37	chr13:48833000-48838400	Strong transcription	NHDF-Ad	bronchial
38	chr13:48833000-48843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:48833400-48840000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:48833400-48840400	Strong transcription	Fetal Kidney	kidney
41	chr13:48833400-48840600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr13:48833600-48838600	Strong transcription	HepG2	liver
43	chr13:48833600-48840400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:48833600-48843600	Weak transcription	Pancreas	Pancrea
45	chr13:48833600-48844400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:48833800-48851600	Weak transcription	Fetal Heart	heart
47	chr13:48834800-48838200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr13:48835200-48838600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:48835400-48838800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr13:48835800-48849400	Weak transcription	NHLF	lung

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