Variant report

Variant	rs10221188
Chromosome Location	chr17:15587575-15587576
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	POLR2A	chr17:15587367-15587753	U87	brain:	n/a	n/a
2	POLR2A	chr17:15587053-15587863	MCF-7	breast:	n/a	n/a
3	ETS1	chr17:15587406-15587831	GM12878	blood:	n/a	chr17:15587648-15587661 chr17:15587623-15587630 chr17:15587623-15587632
4	POLR2A	chr17:15587400-15587672	A549	lung:	n/a	n/a
5	CTCF	chr17:15587480-15587630	HUVEC	blood vessel:	n/a	n/a
6	HDAC2	chr17:15587436-15587658	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr17:15587448-15587814	Hela-S3	cervix:	n/a	chr17:15587641-15587659 chr17:15587650-15587659 chr17:15587648-15587657
8	POLR2A	chr17:15587313-15587748	Hela-S3	cervix:	n/a	n/a
9	MYC	chr17:15587558-15587587	MCF-7	breast:	n/a	n/a
10	TCF3	chr17:15587407-15587658	GM12878	blood:	n/a	n/a
11	RCOR1	chr17:15587529-15587632	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:15587383-15587666	H1-hESC	embryonic stem cell:	n/a	n/a
13	GABPA	chr17:15587431-15587861	H1-hESC	embryonic stem cell:	n/a	n/a
14	SREBP1	chr17:15587425-15587986	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:15587393-15587717	H1-hESC	embryonic stem cell:	n/a	n/a
16	SPI1	chr17:15587469-15587705	K562	blood:	n/a	chr17:15587620-15587633
17	MYC	chr17:15587378-15587747	K562	blood:	n/a	n/a
18	MYC	chr17:15587176-15587745	K562	blood:	n/a	n/a
19	POLR2A	chr17:15586583-15588019	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr17:15586938-15587682	GM12891	blood:	n/a	n/a
21	POLR2A	chr17:15587534-15587626	K562	blood:	n/a	n/a
22	MAX	chr17:15587454-15587820	HepG2	liver:	n/a	n/a
23	SIX5	chr17:15587455-15587802	K562	blood:	n/a	chr17:15587648-15587657 chr17:15587647-15587661 chr17:15587650-15587659
24	MYC	chr17:15587499-15587712	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr17:15587302-15587789	GM12878	blood:	n/a	n/a
26	MAZ	chr17:15587514-15587790	GM12878	blood:	n/a	n/a
27	MYC	chr17:15587336-15587690	MCF-7	breast:	n/a	n/a
28	ELF1	chr17:15587473-15587817	A549	lung:	n/a	chr17:15587619-15587632
29	REST	chr17:15587422-15587804	PFSK-1	brain:	n/a	n/a
30	SPI1	chr17:15587485-15587714	K562	blood:	n/a	chr17:15587620-15587633
31	RCOR1	chr17:15587512-15587711	HepG2	liver:	n/a	n/a
32	IRF1	chr17:15587410-15587795	K562	blood:	n/a	n/a
33	POLR2A	chr17:15587067-15587783	K562	blood:	n/a	n/a
34	SIX5	chr17:15587505-15587739	H1-hESC	embryonic stem cell:	n/a	chr17:15587648-15587657 chr17:15587647-15587661 chr17:15587650-15587659
35	MAX	chr17:15587445-15587839	A549	lung:	n/a	n/a
36	POLR2A	chr17:15587449-15587736	K562	blood:	n/a	n/a
37	SIX5	chr17:15587442-15587785	GM12878	blood:	n/a	chr17:15587648-15587657 chr17:15587647-15587661 chr17:15587650-15587659
38	MYC	chr17:15587521-15587647	MCF10A-Er-Src	breast:	n/a	n/a
39	IRF4	chr17:15587300-15587703	GM12878	blood:	n/a	n/a
40	ZNF143	chr17:15587444-15587818	K562	blood:	n/a	chr17:15587641-15587659 chr17:15587650-15587659 chr17:15587648-15587657
41	MXI1	chr17:15587415-15587712	Hela-S3	cervix:	n/a	n/a
42	YY1	chr17:15587447-15587787	GM12892	blood:	n/a	n/a
43	TAF1	chr17:15587434-15587787	PFSK-1	brain:	n/a	n/a
44	ELF1	chr17:15587364-15587809	GM12878	blood:	n/a	chr17:15587619-15587632
45	MXI1	chr17:15586961-15587881	IMR90	lung:	n/a	n/a
46	TAF1	chr17:15587482-15587718	ECC-1	luminal epithelium:	n/a	n/a
47	PAX5	chr17:15587149-15587578	GM12878	blood:	n/a	n/a
48	POLR2A	chr17:15587417-15587645	GM12891	blood:	n/a	n/a
49	CTCF	chr17:15587185-15587590	K562	blood:	n/a	n/a
50	TBP	chr17:15587512-15587621	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-385D13.1.1-1	chr17:15587510-15587611	NONHSAT145838
2	lnc-RP11-385D13.1.1-1	chr17:15587510-15587580	NONHSAT145840
3	lnc-RP11-385D13.1.1-1	chr17:15587510-15587589	NONHSAT145841
4	lnc-RP11-385D13.1.1-1	chr17:15587510-15587615	NONHSAT145843
5	lnc-RP11-385D13.1.1-1	chr17:15587510-15587625	NONHSAT145847
6	lnc-RP11-385D13.1.1-1	chr17:15587510-15587613	NONHSAT145844
7	lnc-RP11-385D13.1.1-1	chr17:15587510-15587612	NONHSAT145845
8	lnc-RP11-385D13.1.1-1	chr17:15587510-15587613	NONHSAT145846

Variant related genes	Relation type
TRIM16	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10221200	0.88[EUR][1000 genomes]
rs11653189	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3760299	0.89[GIH][hapmap]
rs57330456	0.90[AMR][1000 genomes]
rs62071666	0.82[AMR][1000 genomes]
rs6502466	0.85[CEU][hapmap];0.82[YRI][hapmap]
rs7223846	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8075077	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
7	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv522130	chr17:15563393-15592762	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv518620	chr17:15563393-15608194	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10221188	ZNF286A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15586400-15587800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:15586400-15588000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr17:15586400-15588000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr17:15586600-15588000	Active TSS	Brain Cingulate Gyrus	brain
5	chr17:15586600-15588000	Active TSS	Brain Germinal Matrix	brain
6	chr17:15586600-15588200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr17:15586600-15588200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:15586800-15588000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:15586800-15588000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:15586800-15588000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr17:15586800-15588000	Active TSS	HSMMtube	muscle
12	chr17:15586800-15588000	Active TSS	NH-A	brain
13	chr17:15586800-15588000	Active TSS	NHDF-Ad	bronchial
14	chr17:15586800-15588200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:15586800-15588200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr17:15586800-15588200	Active TSS	HepG2	liver
17	chr17:15586800-15588200	Active TSS	K562	blood
18	chr17:15587000-15587600	Active TSS	Small Intestine	intestine
19	chr17:15587000-15587600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr17:15587000-15587800	Active TSS	Fetal Brain Male	brain
21	chr17:15587000-15587800	Active TSS	Fetal Thymus	thymus
22	chr17:15587000-15588000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr17:15587000-15588000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:15587000-15588000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:15587000-15588000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:15587000-15588000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr17:15587000-15588000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:15587000-15588000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:15587000-15588000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:15587000-15588000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:15587000-15588000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr17:15587000-15588000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr17:15587000-15588000	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr17:15587000-15588000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:15587000-15588000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:15587000-15588000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:15587000-15588000	Active TSS	Brain Substantia Nigra	brain
38	chr17:15587000-15588000	Active TSS	Colonic Mucosa	Colon
39	chr17:15587000-15588000	Active TSS	Esophagus	oesophagus
40	chr17:15587000-15588000	Active TSS	Fetal Brain Female	brain
41	chr17:15587000-15588000	Active TSS	Fetal Intestine Small	intestine
42	chr17:15587000-15588000	Active TSS	Fetal Lung	lung
43	chr17:15587000-15588000	Active TSS	Placenta	Placenta
44	chr17:15587000-15588000	Active TSS	Left Ventricle	heart
45	chr17:15587000-15588000	Active TSS	Ovary	ovary
46	chr17:15587000-15588000	Active TSS	Psoas Muscle	Psoas
47	chr17:15587000-15588000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr17:15587000-15588000	Active TSS	Right Ventricle	heart
49	chr17:15587000-15588000	Active TSS	Stomach Mucosa	stomach
50	chr17:15587000-15588000	Active TSS	HUVEC	blood vessel

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