Variant report

Variant	rs17471125
Chromosome Location	chr1:97553128-97553129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10875055	1.00[CHB][hapmap]
rs11165814	1.00[ASN][1000 genomes]
rs12133667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12139679	1.00[ASN][1000 genomes]
rs1413227	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1413229	1.00[CHB][hapmap]
rs1413231	1.00[CHB][hapmap]
rs1413235	1.00[CHB][hapmap]
rs17469736	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3762412	1.00[CHB][hapmap]
rs494271	1.00[CHB][hapmap]
rs4950023	1.00[CHB][hapmap]
rs496179	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs533365	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs542490	1.00[ASN][1000 genomes]
rs6593632	1.00[CHB][hapmap]
rs6593636	1.00[CHB][hapmap]
rs6593637	1.00[CHB][hapmap]
rs6661442	1.00[CHB][hapmap]
rs6681752	1.00[CHB][hapmap]
rs6683351	1.00[CHB][hapmap]
rs6683883	1.00[CHB][hapmap]
rs6697132	1.00[CHB][hapmap]
rs7513333	1.00[CHB][hapmap]
rs7537668	1.00[CHB][hapmap]
rs828052	1.00[CHB][hapmap]
rs828054	1.00[CHB][hapmap]
rs828058	1.00[CHB][hapmap]
rs885622	1.00[CHB][hapmap]
rs914959	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830692	chr1:97501492-97625153	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17471125	NRBF2	trans	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97537400-97559400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:97538000-97603600	Weak transcription	Psoas Muscle	Psoas
3	chr1:97538600-97554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:97538600-97557400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:97538600-97561800	Weak transcription	Right Ventricle	heart
6	chr1:97538600-97562200	Weak transcription	Left Ventricle	heart
7	chr1:97538600-97562200	Weak transcription	Lung	lung
8	chr1:97539600-97559400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:97539600-97565000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:97540000-97566800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:97540400-97575200	Weak transcription	Ovary	ovary
12	chr1:97542200-97562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:97542400-97553600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:97542400-97584800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:97542600-97560000	Weak transcription	Dnd41	blood
16	chr1:97542800-97562200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:97543000-97562600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:97544000-97556800	Weak transcription	Primary T cells from cord blood	blood
19	chr1:97545200-97559600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:97545200-97559600	Weak transcription	Adipose Nuclei	Adipose
21	chr1:97545200-97559800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:97545200-97561000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:97546200-97561400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:97548400-97554400	Weak transcription	Liver	Liver
25	chr1:97549000-97562200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:97549200-97554400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:97550000-97554000	Weak transcription	NH-A	brain
28	chr1:97550000-97559600	Weak transcription	NHLF	lung
29	chr1:97550800-97559200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:97552600-97574600	Strong transcription	Monocytes-CD14+_RO01746	blood

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