Variant report

Variant	rs4526415
Chromosome Location	chr9:97377525-97377526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97363454..97366255-chr9:97375188..97377706,2	K562	blood:
2	chr9:97375440..97378542-chr9:97391725..97394611,4	MCF-7	breast:
3	chr9:97376514..97379052-chr9:97399479..97401941,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165140	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1754436	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1754437	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1769255	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1769257	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2772021	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28745271	0.82[ASN][1000 genomes]
rs28786777	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2993972	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35600708	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs56144694	0.85[ASN][1000 genomes]
rs56385954	0.91[ASN][1000 genomes]
rs601389	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7020257	0.82[YRI][hapmap]
rs7851565	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4526415	HIATL1	cis	lung	GTEx
rs4526415	HIATL1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97364400-97382800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr9:97364800-97382800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr9:97366600-97384400	Weak transcription	Small Intestine	intestine
4	chr9:97370000-97382400	Weak transcription	Lung	lung
5	chr9:97371400-97401000	Weak transcription	Spleen	Spleen
6	chr9:97371600-97384200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:97372400-97384400	Weak transcription	Gastric	stomach
8	chr9:97373000-97381200	Weak transcription	Fetal Stomach	stomach
9	chr9:97374600-97380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:97374600-97384400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr9:97374600-97392600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:97374600-97393400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:97374800-97381000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:97374800-97384200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:97375200-97385600	Weak transcription	Stomach Mucosa	stomach
16	chr9:97375400-97379400	Weak transcription	HepG2	liver
17	chr9:97375400-97382800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr9:97375400-97382800	Strong transcription	Fetal Intestine Large	intestine
19	chr9:97375400-97383000	Strong transcription	Fetal Intestine Small	intestine
20	chr9:97375800-97380600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:97375800-97381000	Weak transcription	Pancreas	Pancrea
22	chr9:97376200-97385800	Strong transcription	Liver	Liver

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