Variant report

Variant	rs28745271
Chromosome Location	chr9:97383222-97383223
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	chr9:97377917..97381579-chr9:97382484..97386312,5	MCF-7	breast:
2	chr9:97379626..97381399-chr9:97382615..97384650,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10993274	0.85[EUR][1000 genomes]
rs10993279	0.80[EUR][1000 genomes]
rs1769257	0.90[ASN][1000 genomes]
rs28369671	0.87[EUR][1000 genomes]
rs28786777	0.82[ASN][1000 genomes]
rs35600708	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4526415	0.82[ASN][1000 genomes]
rs5006547	0.85[EUR][1000 genomes]
rs55983816	0.83[ASN][1000 genomes]
rs56144694	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56385954	0.81[EUR][1000 genomes]
rs7851565	0.83[EUR][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	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
2	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv614918	chr9:97380597-97412037	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv893597	chr9:97380597-97463435	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs28745271	HIATL1	cis	Nerve Tibial	GTEx
rs28745271	HIATL1	cis	lung	GTEx
rs28745271	HIATL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97366600-97384400	Weak transcription	Small Intestine	intestine
2	chr9:97371400-97401000	Weak transcription	Spleen	Spleen
3	chr9:97371600-97384200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:97372400-97384400	Weak transcription	Gastric	stomach
5	chr9:97374600-97384400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr9:97374600-97392600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:97374600-97393400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:97374800-97384200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr9:97375200-97385600	Weak transcription	Stomach Mucosa	stomach
10	chr9:97376200-97385800	Strong transcription	Liver	Liver
11	chr9:97381400-97389800	Weak transcription	Pancreas	Pancrea
12	chr9:97381400-97400400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:97381600-97401000	Weak transcription	Right Atrium	heart
14	chr9:97382600-97392800	Weak transcription	Lung	lung
15	chr9:97382600-97393000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:97382800-97384400	Weak transcription	Fetal Stomach	stomach
17	chr9:97382800-97387000	Weak transcription	Fetal Intestine Large	intestine
18	chr9:97382800-97387600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:97382800-97388200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr9:97382800-97399400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr9:97383000-97383800	Weak transcription	Fetal Intestine Small	intestine
22	chr9:97383000-97384200	Weak transcription	Fetal Lung	lung

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