Variant report

Variant	rs1905539
Chromosome Location	chr10:118739314-118739315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:118737800..118740271-chr10:118750000..118751537,2	MCF-7	breast:
2	chr10:118738451..118741295-chr10:118744110..118745939,2	K562	blood:
3	chr10:118734513..118736119-chr10:118738818..118741061,2	MCF-7	breast:
4	chr10:118738234..118741187-chr10:118764097..118766554,3	MCF-7	breast:
5	chr10:118736494..118739401-chr10:118765061..118766707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187164	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10218905	0.81[EUR][1000 genomes]
rs10787735	0.81[EUR][1000 genomes]
rs11197861	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11197863	0.83[EUR][1000 genomes]
rs1122688	0.81[EUR][1000 genomes]
rs2101264	0.83[EUR][1000 genomes]
rs2118207	0.80[EUR][1000 genomes]
rs2257791	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4751614	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4752018	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7083142	0.82[EUR][1000 genomes]
rs7902527	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7903295	0.83[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1905539	KIAA1598	cis	Whole Blood	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118699200-118740600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:118699200-118748200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:118703600-118740000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:118703600-118752200	Weak transcription	Gastric	stomach
5	chr10:118708200-118744000	Weak transcription	K562	blood
6	chr10:118711000-118739600	Weak transcription	Fetal Stomach	stomach
7	chr10:118711200-118740000	Weak transcription	Adipose Nuclei	Adipose
8	chr10:118721600-118764000	Weak transcription	Ovary	ovary
9	chr10:118723200-118740000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:118725200-118763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:118725600-118740600	Weak transcription	Fetal Intestine Small	intestine
12	chr10:118727600-118743400	Weak transcription	HepG2	liver
13	chr10:118730600-118739800	Enhancers	Fetal Brain Male	brain
14	chr10:118734200-118748200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr10:118734400-118744000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:118735000-118739600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:118735000-118743800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr10:118735000-118752000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr10:118735000-118762800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:118735200-118744800	Weak transcription	HUVEC	blood vessel
21	chr10:118736000-118739400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:118736200-118751400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:118736400-118753000	Weak transcription	Liver	Liver
24	chr10:118736800-118743800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:118737000-118739400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr10:118737000-118740200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:118737200-118744000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:118737200-118750000	Weak transcription	A549	lung
29	chr10:118737200-118762800	Weak transcription	NHEK	skin
30	chr10:118737400-118760200	Weak transcription	Pancreas	Pancrea
31	chr10:118737600-118739600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr10:118737600-118740600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr10:118737600-118743400	Weak transcription	Fetal Intestine Large	intestine
34	chr10:118738000-118739800	Enhancers	Brain Hippocampus Middle	brain
35	chr10:118738200-118739400	Enhancers	Brain Germinal Matrix	brain
36	chr10:118738200-118739600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr10:118738200-118739600	Enhancers	Brain Cingulate Gyrus	brain
38	chr10:118738200-118739800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr10:118738200-118739800	Enhancers	Fetal Brain Female	brain
40	chr10:118738400-118739400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr10:118738400-118739800	Enhancers	Brain Angular Gyrus	brain
42	chr10:118738400-118741000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr10:118738400-118744200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:118738600-118739400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr10:118738800-118741800	Weak transcription	Brain Anterior Caudate	brain
46	chr10:118738800-118749200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr10:118738800-118762800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:118739000-118739400	ZNF genes & repeats	Aorta	Aorta
49	chr10:118739000-118748200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:118739200-118740200	Weak transcription	Brain Substantia Nigra	brain

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