Variant report

Variant	rs11593277
Chromosome Location	chr10:118757354-118757355
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:118747095..118751622-chr10:118752184..118758339,7	K562	blood:
2	chr10:118756635..118759830-chr10:118763258..118765641,4	MCF-7	breast:
3	chr10:118754411..118757627-chr10:118759486..118762210,3	MCF-7	breast:
4	chr10:118756628..118761775-chr10:118762306..118766688,9	MCF-7	breast:
5	chr10:118749831..118751722-chr10:118756839..118758419,2	K562	blood:
6	chr10:118752140..118753720-chr10:118755796..118757523,2	K562	blood:

Variant related genes	Relation type
ENSG00000187164	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10218905	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10510025	0.81[EUR][1000 genomes]
rs10787735	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10886016	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10886017	0.81[EUR][1000 genomes]
rs10886021	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11197863	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1122688	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11598817	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12769006	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1419832	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1905538	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1905542	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1905544	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2101264	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2118207	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2531685	0.81[EUR][1000 genomes]
rs2531689	0.81[ASN][1000 genomes]
rs2531690	0.82[ASN][1000 genomes]
rs2627194	0.83[EUR][1000 genomes]
rs4092881	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4638225	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6585422	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7074047	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7077565	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7079724	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7083142	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7089699	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs719012	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs740600	0.81[EUR][1000 genomes]
rs7901788	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7903295	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755506	chr10:118748764-118800107	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11593277	KIAA1598	cis	Whole Blood	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118721600-118764000	Weak transcription	Ovary	ovary
2	chr10:118725200-118763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:118735000-118762800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:118737200-118762800	Weak transcription	NHEK	skin
5	chr10:118737400-118760200	Weak transcription	Pancreas	Pancrea
6	chr10:118738800-118762800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:118745000-118760400	Weak transcription	K562	blood
8	chr10:118747400-118763000	Weak transcription	HUVEC	blood vessel
9	chr10:118749800-118759600	Weak transcription	Brain Germinal Matrix	brain
10	chr10:118750200-118764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:118751200-118760200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr10:118751600-118758200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:118751600-118763800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:118751800-118760000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr10:118752200-118757800	Weak transcription	Hela-S3	cervix
16	chr10:118752400-118763600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:118752400-118764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:118754000-118757400	Enhancers	Fetal Intestine Large	intestine
19	chr10:118754400-118757400	Enhancers	Brain Substantia Nigra	brain
20	chr10:118755000-118760400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr10:118755200-118757400	Enhancers	Brain Anterior Caudate	brain
22	chr10:118755600-118759600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:118755600-118760200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:118755600-118763800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:118755800-118759600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:118755800-118760400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr10:118756400-118757400	Enhancers	Brain Hippocampus Middle	brain
28	chr10:118756600-118761400	Weak transcription	Liver	Liver
29	chr10:118756800-118759600	Weak transcription	Brain Angular Gyrus	brain
30	chr10:118756800-118761400	Weak transcription	A549	lung
31	chr10:118756800-118763200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:118756800-118763600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:118757000-118761000	Weak transcription	HepG2	liver
34	chr10:118757200-118758200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:118757200-118759600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:118757200-118759600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr10:118757200-118763600	Weak transcription	Rectal Mucosa Donor 31	rectum

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