Variant report

Variant	rs17171248
Chromosome Location	chr7:38029832-38029833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:37986861..37989135-chr7:38028141..38031087,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10488618	0.86[ASN][1000 genomes]
rs1349396	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1376254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464716	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1524051	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1524052	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17171238	0.86[ASN][1000 genomes]
rs17171240	0.90[ASN][1000 genomes]
rs17171245	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171277	0.81[EUR][1000 genomes]
rs1949774	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2044830	0.90[ASN][1000 genomes]
rs2122620	0.86[ASN][1000 genomes]
rs2392527	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4430011	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55971087	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57948667	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61618798	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6965376	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs73691906	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs952368	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs952369	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9648456	0.90[EUR][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	nsv8074	chr7:37865340-38210087	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17171248	HBG2	trans	brain	seeQTL
rs17171248	HBG1	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38027000-38030000	Weak transcription	Pancreas	Pancrea
2	chr7:38028400-38031200	Enhancers	Stomach Mucosa	stomach
3	chr7:38028600-38038200	Weak transcription	HSMMtube	muscle
4	chr7:38028800-38031200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:38029000-38038800	Weak transcription	HSMM	muscle

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