Variant report

Variant	rs9895057
Chromosome Location	chr17:17204198-17204199
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr17:17203977-17205025	A549	lung:	n/a	n/a
2	MAZ	chr17:17204063-17204273	GM12878	blood:	n/a	n/a
3	TCF12	chr17:17204073-17204238	H1-hESC	embryonic stem cell:	n/a	n/a
4	ELF1	chr17:17203915-17204839	GM12878	blood:	n/a	n/a
5	E2F4	chr17:17204036-17204320	MCF10A-Er-Src	breast:	n/a	n/a
6	SIN3A	chr17:17204055-17204897	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr17:17203997-17204900	A549	lung:	n/a	n/a
8	SIN3AK20	chr17:17203948-17204474	A549	lung:	n/a	n/a
9	MAX	chr17:17203957-17205100	A549	lung:	n/a	n/a
10	MXI1	chr17:17204037-17204856	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr17:17204136-17204704	A549	lung:	n/a	n/a
12	TAF1	chr17:17203937-17205076	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr17:17204113-17204795	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAZ	chr17:17204030-17204470	IMR90	lung:	n/a	n/a
15	CTCF	chr17:17204100-17204250	SAEC	small airway:	n/a	n/a
16	GTF2F1	chr17:17204181-17204340	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr17:17203885-17205194	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr17:17204111-17204915	A549	lung:	n/a	n/a
19	POLR2A	chr17:17204173-17204477	Gliobla	brain:	n/a	n/a
20	KAP1	chr17:17204148-17205000	U2OS	brain:	n/a	n/a
21	POLR2A	chr17:17204017-17204934	Raji	blood:	n/a	n/a
22	YY1	chr17:17204030-17204894	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3AK20	chr17:17204085-17204537	PANC-1	pancreas:	n/a	n/a
24	TAF1	chr17:17203999-17205017	A549	lung:	n/a	n/a
25	EBF1	chr17:17204014-17204579	GM12878	blood:	n/a	n/a
26	CTCF	chr17:17204180-17204330	GM12871	blood:	n/a	n/a
27	ETS1	chr17:17203936-17204448	A549	lung:	n/a	n/a
28	POLR2A	chr17:17204148-17205049	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr17:17204080-17204348	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr17:17204169-17204250	H1-hESC	embryonic stem cell:	n/a	n/a
31	SIN3AK20	chr17:17203993-17204603	A549	lung:	n/a	n/a
32	E2F6	chr17:17203964-17204906	A549	lung:	n/a	n/a
33	KAP1	chr17:17204057-17205008	HEK293	kidney:	n/a	n/a
34	SP4	chr17:17204076-17204729	H1-hESC	embryonic stem cell:	n/a	n/a
35	REST	chr17:17203912-17204991	A549	lung:	n/a	n/a
36	REST	chr17:17204031-17204604	A549	lung:	n/a	n/a
37	YY1	chr17:17203997-17204993	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr17:17204018-17204999	HEK293	kidney:	n/a	n/a
39	TBP	chr17:17203979-17204960	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr17:17204080-17204230	A549	lung:	n/a	n/a
41	SP1	chr17:17203975-17204986	A549	lung:	n/a	n/a
42	SP1	chr17:17203973-17205022	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr17:17204080-17204230	HMEC	breast:	n/a	n/a
44	SP1	chr17:17203884-17204999	A549	lung:	n/a	n/a
45	ZNF143	chr17:17204152-17204792	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIX5	chr17:17204004-17205007	A549	lung:	n/a	chr17:17204094-17204103 chr17:17204081-17204090
47	RCOR1	chr17:17204035-17204212	GM12878	blood:	n/a	n/a
48	POLR2A	chr17:17204099-17204880	A549	lung:	n/a	n/a
49	POLR2A	chr17:17203884-17204461	U87	brain:	n/a	n/a
50	POLR2A	chr17:17203951-17204928	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17182421..17186483-chr17:17204152..17209830,5	MCF-7	breast:

No data

Variant related genes	Relation type
NT5M	TF binding region
ENSG00000141030	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12451886	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2041393	0.97[ASN][1000 genomes]
rs62066114	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62066115	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7207856	0.97[ASN][1000 genomes]
rs7217114	0.83[ASN][1000 genomes]
rs7217162	0.83[ASN][1000 genomes]
rs9889367	0.81[ASN][1000 genomes]
rs9889738	0.81[ASN][1000 genomes]
rs9899615	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9907528	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9907711	0.82[ASN][1000 genomes]
rs9907857	0.82[ASN][1000 genomes]
rs9908209	0.84[AFR][1000 genomes]
rs9908807	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9909032	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9909111	0.82[ASN][1000 genomes]
rs9912109	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv33859	chr17:17189904-17208157	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17200400-17204200	Weak transcription	HMEC	breast
2	chr17:17200400-17206000	Weak transcription	NHEK	skin
3	chr17:17201600-17204200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:17202000-17206400	Weak transcription	HSMM	muscle
5	chr17:17202200-17204200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr17:17203400-17204200	Enhancers	Fetal Heart	heart
7	chr17:17203400-17204600	Enhancers	Fetal Brain Male	brain
8	chr17:17203400-17204600	Active TSS	A549	lung
9	chr17:17203400-17204800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr17:17203400-17205200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr17:17203400-17205200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr17:17203400-17207000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr17:17203600-17204200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr17:17203600-17204200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:17203600-17204200	Enhancers	Brain Angular Gyrus	brain
16	chr17:17203600-17204200	Active TSS	Fetal Lung	lung
17	chr17:17203600-17204200	Enhancers	GM12878-XiMat	blood
18	chr17:17203600-17204200	Enhancers	NHDF-Ad	bronchial
19	chr17:17203600-17204800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr17:17203600-17204800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr17:17203600-17205000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:17203600-17205200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:17203600-17205200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:17203600-17205200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:17203600-17205200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr17:17203600-17207000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr17:17203800-17204200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:17203800-17204200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:17203800-17204200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr17:17203800-17204200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr17:17203800-17204200	Enhancers	Primary hematopoietic stem cells	blood
32	chr17:17203800-17204200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr17:17203800-17204200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:17203800-17204200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:17203800-17204200	Enhancers	Liver	Liver
36	chr17:17203800-17204200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:17203800-17204200	Enhancers	Colonic Mucosa	Colon
38	chr17:17203800-17204200	Enhancers	Duodenum Mucosa	Duodenum
39	chr17:17203800-17204200	Active TSS	Ovary	ovary
40	chr17:17203800-17204200	Active TSS	Stomach Smooth Muscle	stomach
41	chr17:17203800-17204200	Active TSS	Osteobl	bone
42	chr17:17203800-17204400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:17203800-17204400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:17203800-17204400	Active TSS	Fetal Intestine Small	intestine
45	chr17:17203800-17204600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:17203800-17204600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr17:17203800-17204600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:17203800-17204600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:17203800-17204600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:17203800-17204600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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