Variant report

Variant	rs17448571
Chromosome Location	chr1:161807952-161807953
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	chr1:161787598..161791151-chr1:161806421..161808728,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17408026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17409485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17415553	1.00[AMR][1000 genomes]
rs17416424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17416633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17416920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17417198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17417647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17418028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17418130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17418389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17448307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490419	1.00[AMR][1000 genomes]
rs2490421	1.00[AMR][1000 genomes]
rs2499837	1.00[AMR][1000 genomes]
rs35284289	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36108216	1.00[AMR][1000 genomes]
rs41271949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5014880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809502	1.00[AMR][1000 genomes];0.87[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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
2	chr1:161780400-161824400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:161780600-161808200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:161780600-161823400	Weak transcription	A549	lung
5	chr1:161780600-161836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:161780800-161812400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:161780800-161823000	Weak transcription	HSMMtube	muscle
8	chr1:161780800-161825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:161780800-161834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:161781000-161823000	Weak transcription	Fetal Kidney	kidney
11	chr1:161785400-161822400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:161787600-161809800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:161787600-161821000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:161790200-161816000	Weak transcription	NHEK	skin
15	chr1:161791400-161823000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:161791600-161812800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:161791600-161816200	Weak transcription	HepG2	liver
18	chr1:161791600-161823000	Weak transcription	Fetal Lung	lung
19	chr1:161791800-161808200	Weak transcription	Right Ventricle	heart
20	chr1:161791800-161819800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:161791800-161820800	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:161791800-161822400	Weak transcription	Thymus	Thymus
23	chr1:161791800-161823000	Weak transcription	Fetal Brain Female	brain
24	chr1:161791800-161823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:161791800-161842000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:161792000-161822400	Weak transcription	Aorta	Aorta
27	chr1:161792000-161823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:161792200-161816000	Weak transcription	Brain Anterior Caudate	brain
29	chr1:161792200-161816200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:161792200-161816800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:161792200-161821000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:161792200-161838000	Weak transcription	Fetal Brain Male	brain
33	chr1:161792600-161808200	Weak transcription	Brain Substantia Nigra	brain
34	chr1:161792600-161818600	Weak transcription	Ovary	ovary
35	chr1:161792800-161812600	Weak transcription	HUVEC	blood vessel
36	chr1:161792800-161816000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:161794200-161808400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:161794800-161811400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:161795200-161812800	Weak transcription	Esophagus	oesophagus
40	chr1:161795200-161860200	Weak transcription	Lung	lung
41	chr1:161795400-161822400	Weak transcription	Fetal Stomach	stomach
42	chr1:161795600-161809200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:161795600-161823000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:161795800-161809400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:161795800-161812400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:161795800-161827600	Weak transcription	Gastric	stomach
47	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
48	chr1:161796000-161820600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:161797800-161812800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:161797800-161818600	Weak transcription	NHLF	lung

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