Variant report

Variant	rs2531685
Chromosome Location	chr10:118646129-118646130
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:118641858..118644146-chr10:118645128..118648052,2	MCF-7	breast:
2	chr10:118646049..118649271-chr10:118762894..118765234,3	MCF-7	breast:
3	chr10:118636634..118640505-chr10:118641692..118646395,4	K562	blood:
4	chr10:118617053..118619205-chr10:118645139..118647080,2	K562	blood:
5	chr10:118640643..118643048-chr10:118646002..118648138,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187164	Chromatin interaction
ENSG00000188316	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10218905	0.94[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs10510025	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10787735	0.84[EUR][1000 genomes]
rs10886016	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10886017	0.89[EUR][1000 genomes]
rs10886021	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11197863	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1122688	0.94[CEU][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs11593277	0.81[EUR][1000 genomes]
rs11598817	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12769006	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1419832	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1637570	0.85[JPT][hapmap]
rs1637572	0.91[JPT][hapmap]
rs1905538	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1905542	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1905544	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2101264	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2118207	0.94[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2531686	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2531689	0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2531690	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627194	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2627197	0.91[JPT][hapmap]
rs3781566	0.82[JPT][hapmap]
rs4092881	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4638225	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6585422	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7074047	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7077565	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7079724	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7083142	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7089699	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs719012	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs740600	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7903295	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs879255	0.82[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2531685	KIAA1598	cis	Whole Blood	GTEx
rs2531685	KIAA1598	cis	brain	BrainEAC

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118636600-118647800	Weak transcription	Liver	Liver
2	chr10:118637200-118648400	Weak transcription	Brain Substantia Nigra	brain
3	chr10:118637200-118658800	Weak transcription	Pancreas	Pancrea
4	chr10:118637600-118670400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:118637800-118648400	Weak transcription	Brain Angular Gyrus	brain
6	chr10:118638600-118648400	Weak transcription	Fetal Intestine Large	intestine
7	chr10:118639000-118666600	Weak transcription	Fetal Intestine Small	intestine
8	chr10:118639400-118646400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:118639600-118648000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:118640400-118646400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:118640400-118647800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:118640400-118649600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr10:118640600-118647800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:118640800-118646400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:118640800-118647600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr10:118640800-118647600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:118640800-118651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:118641000-118647200	Weak transcription	HSMM	muscle
19	chr10:118641000-118647600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:118641000-118650600	Weak transcription	Adipose Nuclei	Adipose
21	chr10:118641400-118648000	Weak transcription	Lung	lung
22	chr10:118641800-118647600	Weak transcription	NH-A	brain
23	chr10:118641800-118648000	Weak transcription	Esophagus	oesophagus
24	chr10:118641800-118648000	Weak transcription	Stomach Mucosa	stomach
25	chr10:118641800-118658800	Weak transcription	K562	blood
26	chr10:118641800-118665200	Weak transcription	HepG2	liver
27	chr10:118641800-118665400	Weak transcription	Fetal Brain Female	brain
28	chr10:118642200-118647000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:118642200-118649200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr10:118642400-118647800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:118642600-118652800	Weak transcription	Fetal Brain Male	brain
32	chr10:118642600-118670400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr10:118643000-118647200	Strong transcription	A549	lung
34	chr10:118643000-118650200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr10:118643400-118650800	Weak transcription	Aorta	Aorta
36	chr10:118643600-118649800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:118643800-118651000	Weak transcription	Brain Anterior Caudate	brain
38	chr10:118644000-118647800	Weak transcription	HUVEC	blood vessel
39	chr10:118645200-118646200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:118645200-118646800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:118645200-118648600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:118645400-118649000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:118645400-118673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr10:118645600-118648600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr10:118645800-118646200	Strong transcription	Hela-S3	cervix
46	chr10:118645800-118646400	Enhancers	Fetal Kidney	kidney
47	chr10:118645800-118646600	Genic enhancers	Brain Germinal Matrix	brain
48	chr10:118645800-118646800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr10:118645800-118646800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr10:118645800-118646800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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