Variant report

Variant	rs12938714
Chromosome Location	chr17:28645110-28645111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:28639261..28640937-chr17:28642822..28645154,2	K562	blood:
2	chr17:28631905..28634186-chr17:28642758..28645693,2	MCF-7	breast:
3	chr17:28619475..28622368-chr17:28642860..28645789,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1050565	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11656408	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11870192	0.82[AMR][1000 genomes]
rs12939390	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12941223	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12945042	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12947654	0.83[EUR][1000 genomes]
rs12949747	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17767256	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2321706	0.91[ASN][1000 genomes]
rs3103303	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3103306	0.91[ASN][1000 genomes]
rs3110060	0.87[ASN][1000 genomes]
rs3110061	0.87[ASN][1000 genomes]
rs3110452	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3110454	0.87[ASN][1000 genomes]
rs33980254	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34353378	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34622227	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35724800	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36000555	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36048853	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3764449	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3794806	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7208052	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7214248	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7223821	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73268099	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7342921	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8078900	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8080149	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs998087	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064975	chr17:28604187-28851905	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv543299	chr17:28604187-28851905	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv543300	chr17:28620420-28659310	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12938714	BLMH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:28639800-28653800	Weak transcription	Fetal Intestine Large	intestine
2	chr17:28642400-28647800	Weak transcription	HepG2	liver
3	chr17:28643000-28645600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:28643600-28648400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr17:28643800-28645600	Enhancers	K562	blood
6	chr17:28644000-28667000	Weak transcription	Colonic Mucosa	Colon
7	chr17:28644200-28672600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:28644400-28645400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr17:28644400-28645400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr17:28644400-28658400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:28645000-28645800	Enhancers	Colon Smooth Muscle	Colon
12	chr17:28645000-28646400	Enhancers	Pancreatic Islets	Pancreatic Islet

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