Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1050565	0.81[ASN][1000 genomes]
rs11656408	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12938714	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12939390	0.93[ASN][1000 genomes]
rs12941223	0.93[ASN][1000 genomes]
rs12945042	0.82[ASN][1000 genomes]
rs12949747	0.82[ASN][1000 genomes]
rs2321706	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3103306	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3110060	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3110061	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3110452	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110454	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33980254	0.84[ASN][1000 genomes]
rs34353378	0.91[ASN][1000 genomes]
rs34622227	0.93[ASN][1000 genomes]
rs35724800	0.86[ASN][1000 genomes]
rs36000555	0.93[ASN][1000 genomes]
rs36048853	0.96[ASN][1000 genomes]
rs3764449	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3794806	0.80[ASN][1000 genomes]
rs7208052	0.86[ASN][1000 genomes]
rs7214248	0.82[ASN][1000 genomes]
rs73268099	0.84[ASN][1000 genomes]
rs7342921	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8078900	0.84[ASN][1000 genomes]
rs8080149	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs998087	0.83[EUR][1000 genomes];0.94[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
rs3103303	BLMH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:28639800-28653800	Weak transcription	Fetal Intestine Large	intestine
2	chr17:28644000-28667000	Weak transcription	Colonic Mucosa	Colon
3	chr17:28644200-28672600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:28644400-28658400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr17:28645600-28650400	Weak transcription	K562	blood
6	chr17:28645600-28653800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr17:28645800-28649200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:28647000-28650000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:28647800-28649400	Enhancers	A549	lung
10	chr17:28648000-28649200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr17:28648000-28663800	Weak transcription	Spleen	Spleen
12	chr17:28648400-28649000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:28648600-28649000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr17:28648800-28649800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:28648800-28649800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr17:28648800-28650600	Weak transcription	HepG2	liver

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