Variant report

Variant	rs7901788
Chromosome Location	chr10:118763586-118763587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:118745589..118747161-chr10:118762227..118764656,2	K562	blood:
2	chr10:118754623..118756244-chr10:118762532..118764217,2	MCF-7	breast:
3	chr10:118607533..118609886-chr10:118761631..118763740,2	MCF-7	breast:
4	chr10:118706892..118708756-chr10:118762371..118764787,2	MCF-7	breast:
5	chr10:118714040..118715856-chr10:118762627..118764628,2	MCF-7	breast:
6	chr10:118762279..118764768-chr10:118773553..118775588,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188316	Chromatin interaction
ENSG00000225302	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10218905	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10510025	0.83[AFR][1000 genomes]
rs10787735	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10886016	0.83[AFR][1000 genomes]
rs10886021	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11197863	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1122688	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11593277	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11598817	0.80[EUR][1000 genomes]
rs12769006	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1905538	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1905542	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2101264	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2118207	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3781566	0.83[AFR][1000 genomes]
rs4092881	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4638225	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6585422	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7077565	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7079724	0.80[EUR][1000 genomes]
rs7083142	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7089699	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs719012	0.81[EUR][1000 genomes]
rs7903295	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[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
rs7901788	KIAA1598	cis	Whole Blood	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118721600-118764000	Weak transcription	Ovary	ovary
2	chr10:118750200-118764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:118751600-118763800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:118752400-118763600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:118752400-118764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:118755600-118763800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:118756800-118763600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:118757200-118763600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr10:118759000-118763600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:118760000-118763600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr10:118760000-118763800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr10:118760200-118763600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr10:118760400-118765200	Active TSS	Brain Cingulate Gyrus	brain
14	chr10:118760800-118763800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:118760800-118765200	Active TSS	Brain Anterior Caudate	brain
16	chr10:118761000-118765200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr10:118761000-118765200	Active TSS	Brain Substantia Nigra	brain
18	chr10:118761400-118765600	Active TSS	Brain Angular Gyrus	brain
19	chr10:118761600-118763800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:118762000-118765200	Active TSS	Brain Hippocampus Middle	brain
21	chr10:118762600-118763600	Active TSS	Fetal Brain Female	brain
22	chr10:118762800-118763600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:118762800-118763600	Enhancers	Pancreas	Pancrea
24	chr10:118762800-118763600	Enhancers	NHEK	skin
25	chr10:118762800-118763800	Enhancers	Fetal Intestine Large	intestine
26	chr10:118762800-118763800	Enhancers	Fetal Intestine Small	intestine
27	chr10:118762800-118763800	Enhancers	Placenta	Placenta
28	chr10:118762800-118764000	Flanking Active TSS	Liver	Liver
29	chr10:118762800-118765200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:118763000-118763600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:118763000-118763600	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr10:118763000-118763600	Enhancers	HMEC	breast
33	chr10:118763000-118763600	Enhancers	HUVEC	blood vessel
34	chr10:118763000-118763800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:118763000-118763800	Enhancers	Adipose Nuclei	Adipose
36	chr10:118763200-118763600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr10:118763200-118763600	Enhancers	Hela-S3	cervix
38	chr10:118763200-118763800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr10:118763200-118763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:118763200-118763800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:118763200-118763800	Enhancers	Fetal Brain Male	brain
42	chr10:118763200-118764000	Weak transcription	Gastric	stomach
43	chr10:118763200-118765200	Active TSS	K562	blood
44	chr10:118763400-118763600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr10:118763400-118763600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:118763400-118763600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr10:118763400-118763600	Active TSS	HepG2	liver
48	chr10:118763400-118766200	Active TSS	A549	lung

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