Variant report

Variant	rs17114125
Chromosome Location	chr1:57038322-57038323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11206845	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12058459	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12058536	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12059747	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12059843	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12070247	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12070557	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12090895	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12098117	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17114119	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1953114	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28365912	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6687908	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6702052	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72903425	1.00[EUR][1000 genomes];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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57016000-57038600	Weak transcription	HSMMtube	muscle
2	chr1:57017400-57039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:57017800-57040800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:57025600-57040000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:57029400-57042200	Weak transcription	Thymus	Thymus
6	chr1:57032000-57038800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:57032200-57040600	Weak transcription	HSMM	muscle
8	chr1:57032400-57042400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:57032800-57039200	Weak transcription	Small Intestine	intestine
10	chr1:57032800-57041000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:57033000-57038800	Weak transcription	Fetal Brain Male	brain
12	chr1:57033800-57039800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:57035200-57039600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:57035200-57039600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:57035200-57039600	Enhancers	Fetal Intestine Large	intestine
16	chr1:57035200-57041400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:57035400-57039400	Enhancers	Brain Substantia Nigra	brain
18	chr1:57035400-57039400	Enhancers	Stomach Mucosa	stomach
19	chr1:57035400-57039600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
20	chr1:57035400-57039800	Enhancers	Brain Angular Gyrus	brain
21	chr1:57035600-57038800	Enhancers	Adipose Nuclei	Adipose
22	chr1:57035600-57038800	Enhancers	HepG2	liver
23	chr1:57035800-57038600	Weak transcription	Aorta	Aorta
24	chr1:57035800-57039000	Enhancers	A549	lung
25	chr1:57035800-57039800	Weak transcription	Lung	lung
26	chr1:57036400-57040800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:57036600-57038400	Enhancers	Brain Hippocampus Middle	brain
28	chr1:57036600-57039000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:57036600-57039000	Genic enhancers	NHLF	lung
30	chr1:57036600-57039400	Enhancers	Placenta	Placenta
31	chr1:57036600-57039600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:57036600-57039800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:57036600-57040600	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:57036600-57040600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr1:57036800-57038400	Enhancers	Psoas Muscle	Psoas
36	chr1:57036800-57038800	Enhancers	Ovary	ovary
37	chr1:57036800-57039000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:57036800-57039200	Enhancers	Brain Anterior Caudate	brain
39	chr1:57036800-57039600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:57036800-57041600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:57037000-57038600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:57037000-57038800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:57037000-57040000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:57037200-57038400	Weak transcription	Fetal Kidney	kidney
45	chr1:57037200-57038400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:57037200-57038800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:57037200-57038800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:57037200-57039200	Weak transcription	Right Atrium	heart
49	chr1:57037200-57039400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:57037200-57039400	Enhancers	Skeletal Muscle Male	skeletal muscle

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