Variant report

Variant	rs7539575
Chromosome Location	chr1:185238669-185238670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185229966..185231549-chr1:185237493..185239817,2	K562	blood:
2	chr1:185238608..185240468-chr1:185252682..185255068,2	K562	blood:
3	chr1:185236190..185238778-chr1:185258731..185260809,2	K562	blood:
4	chr1:185233763..185236348-chr1:185237577..185240144,2	K562	blood:
5	chr1:185234057..185236826-chr1:185238378..185241484,4	K562	blood:
6	chr1:185237694..185239337-chr1:185247474..185249416,2	K562	blood:

Variant related genes	Relation type
ENSG00000252612	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10174	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs10218496	0.84[ASN][1000 genomes]
rs10798002	0.97[EUR][1000 genomes]
rs10798003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798004	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798006	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911700	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911702	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs10911704	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs10911706	0.83[ASN][1000 genomes]
rs10911708	0.85[EUR][1000 genomes]
rs12026391	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs12041704	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12096987	0.88[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12119471	0.86[ASN][1000 genomes]
rs12127840	0.86[ASN][1000 genomes]
rs12135172	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12135769	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12136040	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336753	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17641003	0.86[EUR][1000 genomes]
rs1889976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095610	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2152707	0.89[EUR][1000 genomes]
rs2224027	0.82[CEU][hapmap]
rs2295212	0.83[ASN][1000 genomes]
rs2378909	0.92[EUR][1000 genomes]
rs2378910	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2383269	0.85[ASN][1000 genomes]
rs34611062	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57977436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424975	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6666742	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6682891	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66845254	0.80[EUR][1000 genomes]
rs6685627	0.98[EUR][1000 genomes]
rs7123	0.87[EUR][1000 genomes]
rs726567	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs7512245	0.81[ASN][1000 genomes]
rs7537341	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7539658	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7542721	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545878	0.81[CEU][hapmap]
rs7550599	0.84[ASN][1000 genomes]
rs7553819	0.82[ASN][1000 genomes]
rs883753	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs9988622	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7539575	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:185210600-185250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
4	chr1:185227000-185247400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:185227800-185262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:185228800-185250400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:185230400-185247000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:185231000-185263400	Weak transcription	Fetal Kidney	kidney
9	chr1:185231800-185249200	Weak transcription	Primary T cells from cord blood	blood
10	chr1:185234000-185253200	Weak transcription	Fetal Heart	heart
11	chr1:185235000-185261800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:185235200-185256800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:185235400-185265400	Weak transcription	Brain Substantia Nigra	brain
14	chr1:185236600-185265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:185237000-185248000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:185237800-185240800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:185237800-185241000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:185238600-185238800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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