Variant report

Variant	rs57517565
Chromosome Location	chr17:45762506-45762507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45760900-45762822	K562	blood:	n/a	n/a
2	BCL3	chr17:45761066-45765975	A549	lung:	n/a	chr17:45762320-45762329 chr17:45761498-45761507
3	POLR2A	chr17:45761337-45762610	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:45761123-45765686	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr17:45761016-45766013	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:45761538-45762558	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr17:45760728-45765897	A549	lung:	n/a	n/a
8	POLR2A	chr17:45760907-45765868	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr17:45760984-45765876	U87	brain:	n/a	n/a
10	POLR2A	chr17:45760971-45763196	HepG2	liver:	n/a	n/a
11	POLR2A	chr17:45761208-45762610	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr17:45762009-45762953	K562	blood:	n/a	n/a
13	POLR2A	chr17:45761068-45762660	K562	blood:	n/a	n/a
14	POLR2A	chr17:45760984-45765870	U87	brain:	n/a	n/a
15	POLR2A	chr17:45758952-45766470	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr17:45760763-45762718	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:45761242-45762582	Hela-S3	cervix:	n/a	n/a
18	PML	chr17:45761117-45763912	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:45761050-45765590	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:45761380-45762626	HL-60	blood:	n/a	n/a
21	FOSL2	chr17:45761978-45762550	HepG2	liver:	n/a	n/a
22	BCLAF1	chr17:45761670-45762588	GM12878	blood:	n/a	chr17:45762320-45762329
23	POLR2A	chr17:45761470-45762612	MCF-7	breast:	n/a	n/a
24	POLR2A	chr17:45761491-45763433	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr17:45760706-45763765	GM12891	blood:	n/a	n/a
26	POLR2A	chr17:45761071-45762597	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr17:45761025-45765803	GM12891	blood:	n/a	n/a
28	POLR2A	chr17:45760978-45762651	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr17:45760968-45763549	GM12892	blood:	n/a	n/a
30	POLR2A	chr17:45761148-45763557	K562	blood:	n/a	n/a
31	BCL3	chr17:45761376-45762530	A549	lung:	n/a	chr17:45762320-45762329 chr17:45761498-45761507
32	POLR2A	chr17:45760999-45763167	K562	blood:	n/a	n/a
33	POLR2A	chr17:45761288-45763317	GM12878	blood:	n/a	n/a
34	POLR2A	chr17:45760244-45765917	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr17:45761106-45762863	GM12891	blood:	n/a	n/a
36	POLR2A	chr17:45761852-45762538	K562	blood:	n/a	n/a
37	POLR2A	chr17:45761894-45762567	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr17:45760700-45764174	GM12891	blood:	n/a	n/a
39	POLR2A	chr17:45760907-45765675	GM12892	blood:	n/a	n/a
40	NFATC1	chr17:45761304-45763295	GM12878	blood:	n/a	n/a
41	POLR2A	chr17:45761166-45766789	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr17:45759834-45765686	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr17:45761164-45763778	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr17:45761089-45762755	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr17:45761138-45762573	HepG2	liver:	n/a	n/a
46	MTA3	chr17:45761054-45763668	GM12878	blood:	n/a	n/a
47	POLR2A	chr17:45760954-45763530	GM12891	blood:	n/a	n/a
48	POLR2A	chr17:45761030-45763732	GM12878	blood:	n/a	n/a
49	POLR2A	chr17:45760742-45763484	GM12892	blood:	n/a	n/a
50	POLR2A	chr17:45761401-45762716	SK-N-MC	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45761397..45766819-chr17:45768713..45773362,9	K562	blood:
2	chr17:45751990..45755538-chr17:45760652..45765275,4	MCF-7	breast:
3	chr17:45761486..45763110-chr17:45770464..45772427,2	MCF-7	breast:
4	chr17:45756856..45759143-chr17:45760653..45762664,2	K562	blood:
5	chr17:45757714..45759244-chr17:45760827..45763039,2	MCF-7	breast:
6	chr17:45761680..45764235-chr17:45810358..45812226,2	MCF-7	breast:
7	chr17:45762090..45764390-chr17:45820597..45823079,2	K562	blood:
8	chr17:45749021..45751778-chr17:45762179..45764324,3	K562	blood:
9	chr17:45760258..45764544-chr17:45769222..45773538,5	MCF-7	breast:
10	chr17:45759177..45766275-chr17:45767435..45773662,12	K562	blood:
11	chr17:45725427..45729938-chr17:45759883..45763405,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264558	TF binding region
ENSG00000073861	Chromatin interaction
ENSG00000198933	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000263766	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1136613	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1136614	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16942128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969984	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56767960	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59583855	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59866241	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59911216	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60014739	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61419652	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8071832	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789082	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45728800-45762800	Strong transcription	Fetal Stomach	stomach
2	chr17:45728800-45765600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr17:45729200-45763800	Strong transcription	Placenta	Placenta
4	chr17:45729600-45762600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:45730400-45764800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:45730400-45765000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:45731200-45763800	Strong transcription	K562	blood
8	chr17:45732400-45762600	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:45732800-45762600	Strong transcription	Brain Anterior Caudate	brain
10	chr17:45733000-45763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:45733200-45763400	Strong transcription	NHEK	skin
12	chr17:45733200-45765000	Strong transcription	HMEC	breast
13	chr17:45736200-45763600	Strong transcription	Dnd41	blood
14	chr17:45737800-45762600	Strong transcription	Thymus	Thymus
15	chr17:45737800-45764200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr17:45738000-45762600	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:45738000-45763800	Strong transcription	Liver	Liver
18	chr17:45738400-45762800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr17:45738400-45763600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr17:45738400-45765600	Strong transcription	Primary T cells from cord blood	blood
21	chr17:45738600-45762600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr17:45738800-45762600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:45740000-45763400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:45741600-45763600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr17:45741800-45763400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr17:45742000-45764800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:45742200-45762600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:45742400-45762800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:45742400-45763800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:45743000-45763000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:45743000-45763200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr17:45743000-45763600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:45743000-45763600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:45743000-45763800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr17:45743000-45764600	Strong transcription	GM12878-XiMat	blood
36	chr17:45743200-45762800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:45747800-45762600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:45747800-45763800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr17:45747800-45764400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:45748200-45764400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:45748200-45764400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:45749600-45763200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr17:45751400-45763600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr17:45752600-45765400	Strong transcription	Fetal Thymus	thymus
45	chr17:45753400-45762600	Strong transcription	Left Ventricle	heart
46	chr17:45753400-45765200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:45754400-45763000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr17:45758000-45762800	Strong transcription	A549	lung
49	chr17:45758200-45770200	Weak transcription	Fetal Heart	heart
50	chr17:45758200-45770600	Weak transcription	Fetal Brain Male	brain

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