Variant report

Variant	rs17071534
Chromosome Location	chr13:48838888-48838889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1002865	0.81[YRI][hapmap]
rs12583514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17071548	1.00[ASN][1000 genomes]
rs17071695	0.84[YRI][hapmap]
rs3092865	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4151479	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151522	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151598	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55830747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56029999	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs561475	1.00[JPT][hapmap]
rs56945534	1.00[ASN][1000 genomes]
rs57935201	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59550884	1.00[ASN][1000 genomes]
rs61709341	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs645833	1.00[JPT][hapmap]
rs7337056	1.00[ASN][1000 genomes]
rs73487075	1.00[ASN][1000 genomes]
rs74074170	1.00[ASN][1000 genomes]
rs74074183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74074184	1.00[ASN][1000 genomes]
rs74074189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9332246	0.84[YRI][hapmap]
rs9332287	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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:126 , 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	chr13:48827600-48839000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr13:48827600-48839800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:48827600-48839800	Strong transcription	Dnd41	blood
13	chr13:48827600-48841000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:48827600-48843600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:48827800-48839800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:48827800-48839800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:48827800-48840800	Strong transcription	Placenta	Placenta
18	chr13:48827800-48843800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:48828000-48840400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr13:48828200-48839000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:48828200-48840000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:48828600-48840200	Strong transcription	Adipose Nuclei	Adipose
23	chr13:48828600-48845800	Weak transcription	Stomach Mucosa	stomach
24	chr13:48828800-48840800	Strong transcription	Liver	Liver
25	chr13:48829000-48839800	Strong transcription	Fetal Lung	lung
26	chr13:48829800-48843400	Weak transcription	Spleen	Spleen
27	chr13:48830800-48840800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr13:48831200-48841200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr13:48832800-48845200	Weak transcription	Fetal Intestine Small	intestine
30	chr13:48833000-48843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:48833400-48840000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr13:48833400-48840400	Strong transcription	Fetal Kidney	kidney
33	chr13:48833400-48840600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:48833600-48840400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:48833600-48843600	Weak transcription	Pancreas	Pancrea
36	chr13:48833600-48844400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr13:48833800-48851600	Weak transcription	Fetal Heart	heart
38	chr13:48835800-48849400	Weak transcription	NHLF	lung
39	chr13:48836200-48839800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr13:48836400-48840000	Genic enhancers	Primary T cells from cord blood	blood
41	chr13:48836400-48840000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:48836400-48840400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr13:48836400-48840600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr13:48836600-48839200	Genic enhancers	Monocytes-CD14+_RO01746	blood
45	chr13:48836800-48839400	Strong transcription	HSMMtube	muscle
46	chr13:48836800-48839800	Strong transcription	Rectal Smooth Muscle	rectum
47	chr13:48836800-48840400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr13:48837000-48839800	Genic enhancers	Primary monocytes fromperipheralblood	blood
49	chr13:48837000-48839800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr13:48837200-48840600	Strong transcription	Fetal Stomach	stomach

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