Variant report

Variant	rs9913018
Chromosome Location	chr17:20064072-20064073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20063115..20065572-chr17:20066389..20068846,2	MCF-7	breast:
2	chr17:20061838..20064819-chr17:20072515..20074758,3	MCF-7	breast:
3	chr17:20063491..20068167-chr17:20071822..20078082,7	MCF-7	breast:
4	chr17:20063488..20065796-chr17:20068015..20069552,2	K562	blood:
5	chr17:20057984..20061939-chr17:20062110..20066958,6	K562	blood:

Variant related genes	Relation type
ENSG00000128487	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11868429	1.00[CHB][hapmap]
rs12051550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12051844	0.85[ASN][1000 genomes]
rs12051865	1.00[CHB][hapmap]
rs13339684	0.88[EUR][1000 genomes]
rs16942325	0.91[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16959946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16960660	0.89[EUR][1000 genomes]
rs16960678	0.89[EUR][1000 genomes]
rs16960700	0.85[ASN][1000 genomes]
rs16960715	0.86[ASN][1000 genomes]
rs16960717	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16960730	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs16960735	0.82[ASN][1000 genomes]
rs16964352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1971043	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1971044	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28550747	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28567541	0.89[EUR][1000 genomes]
rs28622601	0.89[EUR][1000 genomes]
rs28644386	0.88[EUR][1000 genomes]
rs3751979	1.00[CHB][hapmap]
rs3764436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5025290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56138907	0.89[EUR][1000 genomes]
rs61141789	0.85[ASN][1000 genomes]
rs6587061	1.00[CHB][hapmap]
rs6587218	0.89[ASN][1000 genomes]
rs6587221	0.86[ASN][1000 genomes]
rs7210439	0.89[EUR][1000 genomes]
rs7211948	0.86[ASN][1000 genomes]
rs7213349	0.91[ASN][1000 genomes]
rs7213816	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7215097	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7215432	0.91[ASN][1000 genomes]
rs7218859	0.82[ASN][1000 genomes]
rs7225605	0.89[EUR][1000 genomes]
rs73299658	0.85[ASN][1000 genomes]
rs73301548	0.90[ASN][1000 genomes]
rs73981803	0.89[EUR][1000 genomes]
rs73981807	0.89[EUR][1000 genomes]
rs73981849	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73984564	0.88[EUR][1000 genomes]
rs73984568	0.88[EUR][1000 genomes]
rs73984571	0.89[EUR][1000 genomes]
rs73984573	0.89[EUR][1000 genomes]
rs8077051	0.85[ASN][1000 genomes]
rs9889684	0.89[EUR][1000 genomes]
rs9895177	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9896190	0.82[ASN][1000 genomes]
rs9897161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9897168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9899514	1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs9901357	0.92[EUR][1000 genomes]
rs9901484	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9902683	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9905976	0.87[ASN][1000 genomes]
rs9908032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9908418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9909156	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9911605	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs9911879	0.89[EUR][1000 genomes]
rs9916729	0.89[EUR][1000 genomes]
rs9941362	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs9941376	1.00[CHB][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv833396	chr17:20029183-20150808	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv2003	chr17:20046306-20090653	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9913018	USP32P3	cis	Nerve Tibial	GTEx
rs9913018	AKAP10	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20060400-20079400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:20060600-20075400	Weak transcription	A549	lung
3	chr17:20060600-20076400	Weak transcription	HSMM	muscle
4	chr17:20060800-20066600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr17:20060800-20067600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:20060800-20068000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:20060800-20073200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:20060800-20075000	Weak transcription	NHEK	skin
9	chr17:20060800-20092200	Weak transcription	Fetal Intestine Small	intestine
10	chr17:20061000-20075200	Weak transcription	NH-A	brain
11	chr17:20061400-20068600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:20061400-20073600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:20061400-20075200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr17:20061600-20080000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:20061800-20067800	Weak transcription	Brain Germinal Matrix	brain
16	chr17:20061800-20069000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:20061800-20075400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:20062000-20065000	Enhancers	Brain Hippocampus Middle	brain
19	chr17:20062000-20067000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:20062000-20068000	Weak transcription	Fetal Brain Female	brain
21	chr17:20062000-20074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:20062000-20074800	Weak transcription	HMEC	breast
23	chr17:20062000-20090400	Weak transcription	Aorta	Aorta
24	chr17:20062200-20073400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr17:20062200-20075200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:20062200-20075800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:20062400-20065800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr17:20063000-20073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:20063400-20066800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:20063400-20071400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:20063400-20073400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr17:20063400-20075200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr17:20063400-20075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr17:20063600-20067800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr17:20063600-20067800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr17:20063600-20067800	Weak transcription	Brain Anterior Caudate	brain
37	chr17:20063600-20068000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:20063600-20073600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:20063600-20075200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr17:20063800-20066800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr17:20063800-20067000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:20063800-20068600	Weak transcription	Brain Substantia Nigra	brain
43	chr17:20063800-20069600	Weak transcription	Hela-S3	cervix
44	chr17:20063800-20071800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:20063800-20073000	Weak transcription	Spleen	Spleen
46	chr17:20063800-20073400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr17:20063800-20073400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr17:20063800-20074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:20063800-20075000	Weak transcription	Ovary	ovary
50	chr17:20064000-20065400	Weak transcription	Primary monocytes fromperipheralblood	blood

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