Variant report

Variant	rs163386
Chromosome Location	chr17:15587874-15587875
allele	C/T
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	SREBP1	chr17:15587425-15587986	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:15586583-15588019	PFSK-1	brain:	n/a	n/a
3	MXI1	chr17:15586961-15587881	IMR90	lung:	n/a	n/a
4	SREBP2	chr17:15587423-15588056	GM12878	blood:	n/a	n/a
5	GABPA	chr17:15587177-15587931	K562	blood:	n/a	n/a
6	POLR2A	chr17:15587185-15587899	H1-hESC	embryonic stem cell:	n/a	n/a
7	GABPA	chr17:15587461-15587943	MCF-7	breast:	n/a	n/a
8	GABPA	chr17:15587484-15587964	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr17:15587208-15587916	A549	lung:	n/a	n/a
10	POLR2A	chr17:15586523-15587888	HepG2	liver:	n/a	n/a
11	HCFC1	chr17:15586958-15588037	Hela-S3	cervix:	n/a	n/a
12	SIX5	chr17:15587422-15587895	H1-hESC	embryonic stem cell:	n/a	chr17:15587648-15587657 chr17:15587647-15587661 chr17:15587650-15587659
13	POLR2A	chr17:15587231-15587902	PFSK-1	brain:	n/a	n/a
14	GABPA	chr17:15587505-15587948	HL-60	blood:	n/a	n/a
15	POLR2A	chr17:15586927-15587898	MCF10A-Er-Src	breast:	n/a	n/a
16	MXI1	chr17:15586883-15588055	SK-N-SH	brain:	n/a	n/a
17	GABPA	chr17:15587217-15587929	A549	lung:	n/a	n/a
18	SIX5	chr17:15587156-15588019	A549	lung:	n/a	chr17:15587648-15587657 chr17:15587647-15587661 chr17:15587650-15587659
19	POLR2A	chr17:15587057-15587875	MCF-7	breast:	n/a	n/a
20	GABPA	chr17:15587239-15587970	MCF-7	breast:	n/a	n/a
21	POLR2A	chr17:15586644-15587888	K562	blood:	n/a	n/a
22	POLR2A	chr17:15586997-15587903	SK-N-MC	brain:	n/a	n/a
23	ELF1	chr17:15587342-15587878	GM12878	blood:	n/a	chr17:15587619-15587632
24	GABPA	chr17:15586978-15588095	A549	lung:	n/a	n/a

Variant related genes	Relation type
TRIM16	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs151315	0.85[EUR][1000 genomes]
rs163378	0.85[EUR][1000 genomes]
rs163379	0.85[EUR][1000 genomes]
rs163381	0.81[ASN][1000 genomes]
rs163382	0.85[EUR][1000 genomes]
rs163383	0.84[EUR][1000 genomes]
rs163384	0.86[EUR][1000 genomes]
rs163387	0.86[EUR][1000 genomes]
rs163388	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs163389	0.81[ASN][1000 genomes]
rs163391	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs189280	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs234608	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15586400-15588000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr17:15586400-15588000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr17:15586600-15588000	Active TSS	Brain Cingulate Gyrus	brain
4	chr17:15586600-15588000	Active TSS	Brain Germinal Matrix	brain
5	chr17:15586600-15588200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr17:15586600-15588200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:15586800-15588000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:15586800-15588000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:15586800-15588000	Active TSS	Muscle Satellite Cultured Cells	--
10	chr17:15586800-15588000	Active TSS	HSMMtube	muscle
11	chr17:15586800-15588000	Active TSS	NH-A	brain
12	chr17:15586800-15588000	Active TSS	NHDF-Ad	bronchial
13	chr17:15586800-15588200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:15586800-15588200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr17:15586800-15588200	Active TSS	HepG2	liver
16	chr17:15586800-15588200	Active TSS	K562	blood
17	chr17:15587000-15588000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:15587000-15588000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:15587000-15588000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:15587000-15588000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:15587000-15588000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr17:15587000-15588000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:15587000-15588000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:15587000-15588000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:15587000-15588000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr17:15587000-15588000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr17:15587000-15588000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr17:15587000-15588000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr17:15587000-15588000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:15587000-15588000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:15587000-15588000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:15587000-15588000	Active TSS	Brain Substantia Nigra	brain
33	chr17:15587000-15588000	Active TSS	Colonic Mucosa	Colon
34	chr17:15587000-15588000	Active TSS	Esophagus	oesophagus
35	chr17:15587000-15588000	Active TSS	Fetal Brain Female	brain
36	chr17:15587000-15588000	Active TSS	Fetal Intestine Small	intestine
37	chr17:15587000-15588000	Active TSS	Fetal Lung	lung
38	chr17:15587000-15588000	Active TSS	Placenta	Placenta
39	chr17:15587000-15588000	Active TSS	Left Ventricle	heart
40	chr17:15587000-15588000	Active TSS	Ovary	ovary
41	chr17:15587000-15588000	Active TSS	Psoas Muscle	Psoas
42	chr17:15587000-15588000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr17:15587000-15588000	Active TSS	Right Ventricle	heart
44	chr17:15587000-15588000	Active TSS	Stomach Mucosa	stomach
45	chr17:15587000-15588000	Active TSS	HUVEC	blood vessel
46	chr17:15587000-15588000	Active TSS	NHLF	lung
47	chr17:15587000-15588200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:15587000-15588200	Active TSS	Colon Smooth Muscle	Colon
49	chr17:15587000-15588200	Active TSS	Fetal Kidney	kidney
50	chr17:15587000-15588200	Active TSS	Pancreatic Islets	Pancreatic Islet

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