Variant report

Variant	rs2101264
Chromosome Location	chr10:118737037-118737038
allele	A/G
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	STAT3	chr10:118736932-118737132	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:118735546..118737838-chr10:118739779..118741710,2	MCF-7	breast:
2	chr10:118736494..118739401-chr10:118765061..118766707,2	MCF-7	breast:

Variant related genes	Relation type
KIAA1598	TF binding region
ENSG00000187164	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10218905	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10510025	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10787735	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10886016	1.00[ASW][hapmap];0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10886017	0.84[EUR][1000 genomes]
rs10886021	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11197861	0.82[EUR][1000 genomes]
rs11197863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1122688	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11593277	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11598817	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12769006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1419832	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1637570	0.95[JPT][hapmap]
rs1637572	0.89[CHD][hapmap];0.91[JPT][hapmap]
rs1905538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1905539	0.83[EUR][1000 genomes]
rs1905542	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1905544	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2118207	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2257791	0.87[TSI][hapmap]
rs2531685	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2531686	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2531689	0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2531690	0.88[ASN][1000 genomes]
rs2627194	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2627197	0.88[CHD][hapmap];0.91[JPT][hapmap]
rs3781566	1.00[ASW][hapmap];0.83[CEU][hapmap];0.83[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs4092881	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4638225	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6585422	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7074047	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7077565	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7079724	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7083142	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7087685	0.82[GIH][hapmap]
rs7089699	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs719012	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs740600	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7901788	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7903295	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs879255	0.83[CEU][hapmap];0.83[JPT][hapmap];0.87[LWK][hapmap];0.81[MEX][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2101264	KIAA1598	cis	Whole Blood	GTEx
rs2101264	PNLIPRP2	cis	cerebellum	SCAN

Chromatin state (count:63 , 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	chr10:118724000-118737800	Weak transcription	Lung	lung
11	chr10:118725200-118763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:118725600-118740600	Weak transcription	Fetal Intestine Small	intestine
13	chr10:118727600-118743400	Weak transcription	HepG2	liver
14	chr10:118730600-118739800	Enhancers	Fetal Brain Male	brain
15	chr10:118732200-118738400	Weak transcription	HSMMtube	muscle
16	chr10:118733600-118738800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:118734200-118748200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr10:118734400-118744000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:118734600-118737400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:118734600-118738200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:118734800-118738200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr10:118734800-118739200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr10:118735000-118737600	Weak transcription	NH-A	brain
24	chr10:118735000-118738000	Weak transcription	HSMM	muscle
25	chr10:118735000-118738200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr10:118735000-118738400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr10:118735000-118739600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:118735000-118743800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr10:118735000-118752000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr10:118735000-118762800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:118735200-118737200	Strong transcription	A549	lung
32	chr10:118735200-118738200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr10:118735200-118744800	Weak transcription	HUVEC	blood vessel
34	chr10:118735400-118737200	Strong transcription	NHEK	skin
35	chr10:118735600-118737400	Genic enhancers	Brain Anterior Caudate	brain
36	chr10:118735600-118737400	Strong transcription	Pancreas	Pancrea
37	chr10:118735600-118737600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr10:118735800-118737600	Enhancers	Brain Angular Gyrus	brain
39	chr10:118735800-118737600	Enhancers	Brain Substantia Nigra	brain
40	chr10:118736000-118739400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:118736200-118738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:118736200-118738400	Weak transcription	Colonic Mucosa	Colon
43	chr10:118736200-118751400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:118736400-118737200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:118736400-118737200	Enhancers	Brain Germinal Matrix	brain
46	chr10:118736400-118738400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr10:118736400-118739200	Strong transcription	Hela-S3	cervix
48	chr10:118736400-118753000	Weak transcription	Liver	Liver
49	chr10:118736600-118737200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr10:118736600-118738200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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