Variant report

Variant	rs2095610
Chromosome Location	chr1:185231987-185231988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:185231967-185232086	MCF-7	breast:	n/a	n/a
2	CTCF	chr1:185231840-185231990	NHLF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185230521..185233061-chr1:185233311..185235376,2	MCF-7	breast:
2	chr1:185231859..185233579-chr1:185234900..185236407,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206640	TF binding region
ENSG00000252612	TF binding region
ENSG00000233583	Chromatin interaction
ENSG00000252612	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10174	0.83[EUR][1000 genomes]
rs10218496	0.83[ASN][1000 genomes]
rs10798002	0.89[EUR][1000 genomes]
rs10798003	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798004	0.93[ASN][1000 genomes]
rs10798006	0.92[ASN][1000 genomes]
rs10911700	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911702	0.82[EUR][1000 genomes]
rs10911706	0.82[ASN][1000 genomes]
rs12026391	0.82[EUR][1000 genomes]
rs12041704	0.85[EUR][1000 genomes]
rs12096987	0.82[ASN][1000 genomes]
rs12119471	0.85[ASN][1000 genomes]
rs12127840	0.85[ASN][1000 genomes]
rs12135172	0.85[ASN][1000 genomes]
rs12135769	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12136040	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1336753	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1889976	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2152707	0.83[EUR][1000 genomes]
rs2295212	0.82[ASN][1000 genomes]
rs2378909	0.85[EUR][1000 genomes]
rs2378910	0.91[EUR][1000 genomes]
rs2383269	0.83[ASN][1000 genomes]
rs34611062	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57977436	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6424975	0.82[ASN][1000 genomes]
rs6666742	0.85[ASN][1000 genomes]
rs6682891	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6685627	0.91[EUR][1000 genomes]
rs7123	0.80[EUR][1000 genomes]
rs7537341	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7539575	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7539658	0.85[ASN][1000 genomes]
rs7542721	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7550599	0.83[ASN][1000 genomes]
rs7553819	0.81[ASN][1000 genomes]
rs883753	0.90[EUR][1000 genomes]
rs9988622	0.82[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
rs2095610	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 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	chr1:185227600-185232000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:185227800-185262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:185228800-185250400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:185229800-185232800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:185230400-185247000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:185230600-185233000	Weak transcription	Fetal Heart	heart
11	chr1:185230600-185236200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:185231000-185263400	Weak transcription	Fetal Kidney	kidney
13	chr1:185231800-185232600	Enhancers	K562	blood
14	chr1:185231800-185234400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:185231800-185249200	Weak transcription	Primary T cells from cord blood	blood

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