Variant report

Variant	rs7034478
Chromosome Location	chr9:26950987-26950988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:26891218..26893852-chr9:26950942..26953085,3	K562	blood:
2	chr9:26891162..26893292-chr9:26950661..26952922,2	MCF-7	breast:
3	chr9:26949977..26952390-chr9:26952885..26955695,2	MCF-7	breast:
4	chr9:26947507..26949074-chr9:26950532..26952059,2	MCF-7	breast:
5	chr9:26943098..26949574-chr9:26949927..26957421,13	K562	blood:

Variant related genes	Relation type
ENSG00000137055	Chromatin interaction
ENSG00000120159	Chromatin interaction
ENSG00000096872	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10738762	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10757634	0.85[ASN][1000 genomes]
rs10757635	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10757636	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10812488	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10812502	0.84[ASN][1000 genomes]
rs10812503	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10812504	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10812506	0.81[ASN][1000 genomes]
rs10812507	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10812508	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10812515	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10812518	0.85[EUR][1000 genomes]
rs10967621	0.83[ASN][1000 genomes]
rs10967622	0.83[ASN][1000 genomes]
rs10967623	0.83[ASN][1000 genomes]
rs10967627	0.83[ASN][1000 genomes]
rs10967629	0.96[ASN][1000 genomes]
rs10967630	0.83[ASN][1000 genomes]
rs10967632	0.96[ASN][1000 genomes]
rs10967633	0.83[ASN][1000 genomes]
rs10967635	0.81[ASN][1000 genomes]
rs10967636	0.81[ASN][1000 genomes]
rs10967648	0.84[ASN][1000 genomes]
rs10967652	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967670	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11534184	0.83[ASN][1000 genomes]
rs11555693	0.81[ASN][1000 genomes]
rs11562224	0.81[ASN][1000 genomes]
rs12235490	0.81[ASN][1000 genomes]
rs12237867	0.84[ASN][1000 genomes]
rs12337896	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1541144	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819539	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2184438	0.94[ASN][1000 genomes]
rs2184439	0.92[ASN][1000 genomes]
rs2225720	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3739544	0.83[ASN][1000 genomes]
rs3758218	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413873	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55827505	0.83[ASN][1000 genomes]
rs55870543	0.80[ASN][1000 genomes]
rs57450012	0.83[ASN][1000 genomes]
rs59159685	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60841248	0.81[ASN][1000 genomes]
rs7018585	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7020010	0.96[ASN][1000 genomes]
rs7034115	0.96[ASN][1000 genomes]
rs7034670	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7034888	0.81[ASN][1000 genomes]
rs7034899	0.81[ASN][1000 genomes]
rs7035292	0.82[AMR][1000 genomes]
rs7035447	0.81[ASN][1000 genomes]
rs7038218	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7040505	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7042133	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7042447	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7849248	0.91[ASN][1000 genomes]
rs7854191	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7860542	0.86[ASN][1000 genomes]
rs7863476	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7865952	0.82[ASN][1000 genomes]
rs7870787	0.94[ASN][1000 genomes]
rs7874940	0.83[ASN][1000 genomes]
rs7875068	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875171	0.83[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	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7034478	IFT74	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26947600-26955200	Weak transcription	Spleen	Spleen
2	chr9:26948000-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:26948200-26953600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr9:26948200-26953600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr9:26948200-26954000	Weak transcription	Osteobl	bone
6	chr9:26948200-26955000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:26948200-26955000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:26948200-26955000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:26948200-26955000	Weak transcription	Adipose Nuclei	Adipose
10	chr9:26948200-26955000	Weak transcription	Brain Angular Gyrus	brain
11	chr9:26948200-26955000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:26948200-26955000	Weak transcription	Brain Substantia Nigra	brain
13	chr9:26948200-26955000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:26948200-26955000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:26948200-26955000	Weak transcription	NHDF-Ad	bronchial
16	chr9:26948200-26955000	Weak transcription	NHLF	lung
17	chr9:26948200-26955200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:26948200-26955200	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:26948200-26955400	Weak transcription	Psoas Muscle	Psoas
20	chr9:26948200-26955800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:26948400-26953800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:26948400-26954000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:26948400-26954200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:26948400-26954600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:26948400-26955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:26948400-26955200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr9:26948400-26955200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr9:26948400-26955200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:26948400-26955200	Weak transcription	Liver	Liver
30	chr9:26949800-26951800	Weak transcription	K562	blood
31	chr9:26949800-26954800	Weak transcription	A549	lung
32	chr9:26949800-26955200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr9:26949800-26955400	Weak transcription	NH-A	brain
34	chr9:26950000-26953800	Weak transcription	Small Intestine	intestine
35	chr9:26950000-26954000	Weak transcription	HepG2	liver
36	chr9:26950000-26955200	Weak transcription	HMEC	breast
37	chr9:26950000-26955200	Weak transcription	NHEK	skin
38	chr9:26950600-26955200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:26950600-26955400	Weak transcription	Hela-S3	cervix

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