Variant report

Variant	rs28715696
Chromosome Location	chr9:97241324-97241325
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	chr9:97240021..97241980-chr9:97249433..97252135,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10114295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10116979	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10125631	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10441776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10993194	0.85[EUR][1000 genomes]
rs10993201	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12338230	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12343123	0.90[EUR][1000 genomes]
rs12343977	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16911832	1.00[EUR][1000 genomes]
rs2406663	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28459299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28477240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28575335	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56413623	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6479541	0.88[EUR][1000 genomes]
rs6479545	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6479549	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7022386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7025878	0.83[EUR][1000 genomes]
rs7027704	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7027860	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7028388	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7030967	0.90[EUR][1000 genomes]
rs7034153	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7036474	0.82[EUR][1000 genomes]
rs7037298	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7041219	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7042219	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7042434	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7042468	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7045712	0.90[EUR][1000 genomes]
rs7046779	0.88[EUR][1000 genomes]
rs73529936	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7850084	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7858126	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7868600	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7868703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7873527	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs908808	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv893594	chr9:97221463-97283226	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs28715696	HIATL1	cis	lung	GTEx
rs28715696	HIATL1	Cis_1M	lymphoblastoid	RTeQTL
rs28715696	HIATL1	cis	Adipose Subcutaneous	GTEx
rs28715696	HIATL1	cis	Skin Sun Exposed Lower leg	GTEx
rs28715696	RP11-307E17.8	cis	Esophagus Muscularis	GTEx
rs28715696	HIATL1	cis	Nerve Tibial	GTEx
rs28715696	HIATL1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97241000-97241800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:97241200-97241400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:97241200-97241600	Weak transcription	Spleen	Spleen
4	chr9:97241200-97241800	Flanking Active TSS	K562	blood
5	chr9:97241200-97243800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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