Variant report

Variant	rs1200079
Chromosome Location	chr1:169158904-169158905
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169156463..169159221-chr1:169159904..169163374,4	K562	blood:

Variant related genes	Relation type
ENSG00000143156	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10081960	0.97[ASN][1000 genomes]
rs1018831	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1040502	1.00[CHB][hapmap]
rs10429893	0.82[JPT][hapmap]
rs10732287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10753785	0.81[ASN][1000 genomes]
rs10800408	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10800414	0.81[ASN][1000 genomes]
rs10800424	0.82[JPT][hapmap]
rs10800425	0.82[JPT][hapmap]
rs10800435	0.82[JPT][hapmap]
rs10800438	0.82[JPT][hapmap]
rs10800440	0.82[JPT][hapmap]
rs10919124	0.82[JPT][hapmap]
rs1200076	0.81[ASN][1000 genomes]
rs1200077	0.81[ASN][1000 genomes]
rs1200082	0.90[CEU][hapmap]
rs1200083	0.81[ASN][1000 genomes]
rs1200085	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1200160	1.00[CHB][hapmap]
rs1200164	0.82[JPT][hapmap]
rs1208327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1208370	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1208371	0.81[ASN][1000 genomes]
rs1208375	0.81[ASN][1000 genomes]
rs1208377	0.81[ASN][1000 genomes]
rs12086665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12137282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12138150	0.97[ASN][1000 genomes]
rs12752748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1591733	0.82[JPT][hapmap]
rs16861990	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17345107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17349222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1829286	0.87[ASN][1000 genomes]
rs1856303	0.82[JPT][hapmap]
rs1892094	1.00[CHB][hapmap]
rs2037250	0.82[JPT][hapmap]
rs2138898	0.82[JPT][hapmap]
rs2176473	0.82[JPT][hapmap]
rs2179490	0.97[ASN][1000 genomes]
rs2420008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35152438	0.90[ASN][1000 genomes]
rs3766044	1.00[CHB][hapmap]
rs3766057	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs3766095	0.82[JPT][hapmap]
rs3905328	0.82[JPT][hapmap]
rs4264046	0.82[JPT][hapmap]
rs4656178	0.97[ASN][1000 genomes]
rs4656672	0.82[JPT][hapmap]
rs61803315	0.97[ASN][1000 genomes]
rs61803316	0.97[ASN][1000 genomes]
rs6427185	0.82[JPT][hapmap]
rs67450288	0.90[ASN][1000 genomes]
rs7415756	0.82[JPT][hapmap]
rs7522760	0.97[ASN][1000 genomes]
rs7533257	0.82[JPT][hapmap]
rs7540067	1.00[CHB][hapmap]
rs7542713	0.97[ASN][1000 genomes]
rs754550	1.00[CHB][hapmap]
rs754551	1.00[CHB][hapmap]
rs7552323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

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	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1200079	NME7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169130400-169195200	Weak transcription	Pancreas	Pancrea
2	chr1:169150400-169162600	Weak transcription	Psoas Muscle	Psoas
3	chr1:169155600-169162800	Weak transcription	A549	lung
4	chr1:169158000-169162200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:169158800-169159200	Enhancers	Pancreatic Islets	Pancreatic Islet

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