Variant report

Variant	rs41275080
Chromosome Location	chr13:110406831-110406832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110404473..110407455-chr13:110429957..110432658,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1550043	1.00[EUR][1000 genomes]
rs55836500	1.00[EUR][1000 genomes]
rs56395277	1.00[EUR][1000 genomes]
rs57201472	1.00[EUR][1000 genomes]
rs58021650	1.00[EUR][1000 genomes]
rs7320328	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7323744	1.00[EUR][1000 genomes]
rs7327695	1.00[EUR][1000 genomes]
rs73606279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73612884	1.00[EUR][1000 genomes]
rs73612888	1.00[EUR][1000 genomes]
rs73612890	1.00[EUR][1000 genomes]
rs73612892	1.00[EUR][1000 genomes]
rs73612896	1.00[EUR][1000 genomes]
rs73612897	1.00[EUR][1000 genomes]
rs73612899	1.00[EUR][1000 genomes]
rs73615005	1.00[EUR][1000 genomes]
rs7982446	0.91[AFR][1000 genomes]
rs7983565	1.00[EUR][1000 genomes]
rs9583434	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv526943	chr13:110393477-110421884	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110396400-110416400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:110396600-110407400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr13:110396600-110407400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:110396600-110411800	Weak transcription	Fetal Kidney	kidney
5	chr13:110396600-110412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:110396600-110412800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:110396600-110417000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:110396800-110411200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr13:110396800-110417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr13:110397000-110407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:110397000-110407400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr13:110397000-110407800	Weak transcription	Fetal Thymus	thymus
13	chr13:110397000-110416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:110397200-110407400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr13:110397200-110407800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:110397200-110408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr13:110397200-110411400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:110397200-110430400	Weak transcription	NHLF	lung
20	chr13:110397400-110407200	Weak transcription	Fetal Intestine Small	intestine
21	chr13:110397400-110407400	Weak transcription	Brain Anterior Caudate	brain
22	chr13:110397400-110408000	Weak transcription	Spleen	Spleen
23	chr13:110397400-110409200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:110397400-110411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:110397400-110419400	Weak transcription	Lung	lung
26	chr13:110397600-110407800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr13:110397800-110407600	Weak transcription	Colonic Mucosa	Colon
28	chr13:110397800-110407800	Weak transcription	Fetal Muscle Leg	muscle
29	chr13:110398600-110409000	Weak transcription	Fetal Heart	heart
30	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:110402200-110413200	Strong transcription	HSMM	muscle
32	chr13:110402400-110407200	Weak transcription	Fetal Stomach	stomach
33	chr13:110402400-110408000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr13:110402600-110409600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:110402800-110407400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:110403000-110407200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:110403000-110410000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr13:110403200-110409400	Weak transcription	Psoas Muscle	Psoas
39	chr13:110403200-110416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:110403200-110430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr13:110403400-110408800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:110403400-110414600	Weak transcription	Esophagus	oesophagus
43	chr13:110403600-110409400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr13:110404000-110408800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr13:110404000-110409400	Strong transcription	Aorta	Aorta
46	chr13:110404000-110409400	Strong transcription	Liver	Liver
47	chr13:110404200-110407200	Weak transcription	NHEK	skin
48	chr13:110404200-110408600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:110404200-110408600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:110404200-110409200	Strong transcription	HMEC	breast

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