Variant report

Variant	rs56192563
Chromosome Location	chr10:25306015-25306016
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	MAX	chr10:25304708-25306260	SK-N-SH	brain:	n/a	chr10:25305892-25305901 chr10:25305505-25305514 chr10:25305500-25305519 chr10:25305507-25305523 chr10:25305504-25305515 chr10:25305919-25305929
2	STAT5A	chr10:25305302-25306335	K562	blood:	n/a	chr10:25305446-25305458
3	CEBPB	chr10:25305478-25306376	GM12878	blood:	n/a	n/a
4	EGR1	chr10:25305291-25306050	ECC-1	luminal epithelium:	n/a	chr10:25305920-25305930 chr10:25305589-25305602 chr10:25305589-25305603 chr10:25305979-25305986 chr10:25305591-25305601 chr10:25305589-25305602 chr10:25305592-25305601 chr10:25305592-25305602 chr10:25305590-25305604 chr10:25305589-25305602 chr10:25305589-25305602 chr10:25305588-25305603 chr10:25305381-25305394 chr10:25305922-25305936
5	PML	chr10:25305407-25306293	K562	blood:	n/a	n/a
6	RAD21	chr10:25305720-25306239	H1-hESC	embryonic stem cell:	n/a	n/a
7	HDAC2	chr10:25305733-25306121	HepG2	liver:	n/a	chr10:25305736-25305750 chr10:25305733-25305747
8	TAF1	chr10:25305436-25306191	K562	blood:	n/a	n/a
9	CUX1	chr10:25305940-25306285	K562	blood:	n/a	n/a
10	EGR1	chr10:25305270-25306110	ECC-1	luminal epithelium:	n/a	chr10:25305920-25305930 chr10:25305589-25305602 chr10:25305589-25305603 chr10:25305979-25305986 chr10:25305591-25305601 chr10:25305589-25305602 chr10:25305592-25305601 chr10:25305592-25305602 chr10:25305590-25305604 chr10:25305589-25305602 chr10:25305589-25305602 chr10:25305588-25305603 chr10:25305381-25305394 chr10:25305922-25305936
11	POLR2A	chr10:25305156-25306336	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr10:25305345-25306137	A549	lung:	n/a	chr10:25305505-25305525
13	RCOR1	chr10:25304825-25306221	Hela-S3	cervix:	n/a	n/a
14	TAF1	chr10:25305479-25306082	GM12891	blood:	n/a	n/a
15	USF1	chr10:25304999-25306151	HCT-116	colon:	n/a	chr10:25305504-25305513 chr10:25305505-25305514 chr10:25305506-25305515 chr10:25305499-25305520 chr10:25305503-25305514 chr10:25305505-25305514 chr10:25305959-25305975
16	REST	chr10:25305352-25306216	HepG2	liver:	n/a	chr10:25305961-25305974 chr10:25305390-25305403 chr10:25305383-25305396 chr10:25305926-25305939
17	ATF2	chr10:25305510-25306529	GM12878	blood:	n/a	n/a
18	RAD21	chr10:25304985-25306107	HepG2	liver:	n/a	chr10:25305556-25305569
19	ZNF143	chr10:25304960-25306345	K562	blood:	n/a	chr10:25305430-25305448 chr10:25305425-25305435
20	POLR2A	chr10:25304869-25306829	IMR90	lung:	n/a	n/a
21	E2F6	chr10:25304899-25307215	H1-hESC	embryonic stem cell:	n/a	chr10:25306779-25306786 chr10:25305948-25305960 chr10:25306779-25306786 chr10:25306775-25306782 chr10:25306774-25306785 chr10:25306775-25306783 chr10:25306778-25306787 chr10:25306775-25306786 chr10:25306774-25306784 chr10:25305337-25305346 chr10:25306775-25306783 chr10:25306779-25306786
22	ETS1	chr10:25305187-25306155	A549	lung:	n/a	n/a
23	USF1	chr10:25305110-25306118	K562	blood:	n/a	chr10:25305504-25305513 chr10:25305505-25305514 chr10:25305506-25305515 chr10:25305499-25305520 chr10:25305503-25305514 chr10:25305505-25305514 chr10:25305959-25305975
24	ZNF263	chr10:25305282-25306082	K562	blood:	n/a	chr10:25305450-25305459
25	USF2	chr10:25304908-25306036	H1-hESC	embryonic stem cell:	n/a	chr10:25305504-25305513 chr10:25305505-25305514 chr10:25305503-25305514 chr10:25305506-25305515 chr10:25305499-25305520 chr10:25305505-25305514 chr10:25305959-25305975
26	E2F6	chr10:25305004-25306126	H1-hESC	embryonic stem cell:	n/a	chr10:25305948-25305960 chr10:25305337-25305346
27	POLR2A	chr10:25305287-25306712	GM12892	blood:	n/a	n/a
28	MAX	chr10:25304887-25306476	MCF-7	breast:	n/a	chr10:25305892-25305901 chr10:25305505-25305514 chr10:25305500-25305519 chr10:25305507-25305523 chr10:25305504-25305515 chr10:25305919-25305929
29	POLR2A	chr10:25304961-25306994	GM12878	blood:	n/a	n/a
30	SIN3AK20	chr10:25304815-25306163	K562	blood:	n/a	n/a
31	TCF3	chr10:25305327-25306033	GM12878	blood:	n/a	n/a
32	MAZ	chr10:25305238-25306196	HepG2	liver:	n/a	chr10:25305892-25305901 chr10:25305505-25305514 chr10:25305500-25305519 chr10:25305507-25305523 chr10:25305504-25305515 chr10:25305919-25305929
33	EGR1	chr10:25305247-25306024	MCF-7	breast:	n/a	chr10:25305920-25305930 chr10:25305589-25305602 chr10:25305589-25305603 chr10:25305979-25305986 chr10:25305591-25305601 chr10:25305589-25305602 chr10:25305592-25305601 chr10:25305592-25305602 chr10:25305590-25305604 chr10:25305589-25305602 chr10:25305589-25305602 chr10:25305588-25305603 chr10:25305381-25305394 chr10:25305922-25305936
34	YY1	chr10:25305289-25306127	K562	blood:	n/a	chr10:25305424-25305438
35	POLR2A	chr10:25305066-25306259	MCF-7	breast:	n/a	n/a
36	POLR2A	chr10:25305290-25306160	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr10:25305065-25306527	HUVEC	blood vessel:	n/a	n/a
38	HEY1	chr10:25305278-25306472	K562	blood:	n/a	n/a
39	RAD21	chr10:25305820-25306071	K562	blood:	n/a	n/a
40	MYBL2	chr10:25304854-25306380	HepG2	liver:	n/a	chr10:25305094-25305109 chr10:25305100-25305110
41	TEAD4	chr10:25304733-25306284	K562	blood:	n/a	n/a
42	NRF1	chr10:25305152-25306046	Hela-S3	cervix:	n/a	chr10:25305336-25305345 chr10:25305999-25306013 chr10:25305335-25305346 chr10:25305569-25305583 chr10:25305884-25305893 chr10:25305333-25305347
43	MAX	chr10:25304834-25306386	H1-hESC	embryonic stem cell:	n/a	chr10:25305892-25305901 chr10:25305505-25305514 chr10:25305500-25305519 chr10:25305507-25305523 chr10:25305504-25305515 chr10:25305919-25305929
44	POLR2A	chr10:25304944-25306501	MCF-7	breast:	n/a	n/a
45	NFIC	chr10:25305317-25306201	HepG2	liver:	n/a	n/a
46	MAX	chr10:25304907-25306354	Hela-S3	cervix:	n/a	chr10:25305892-25305901 chr10:25305505-25305514 chr10:25305500-25305519 chr10:25305507-25305523 chr10:25305504-25305515 chr10:25305919-25305929
47	ZNF143	chr10:25304967-25306254	GM12878	blood:	n/a	chr10:25305430-25305448 chr10:25305425-25305435
48	CHD1	chr10:25305573-25306413	GM12878	blood:	n/a	n/a
49	ELK1	chr10:25305352-25306154	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr10:25304746-25306449	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:24926297..24929907-chr10:25304441..25307349,3	MCF-7	breast:
2	chr10:24911061..24913543-chr10:25305498..25307037,2	MCF-7	breast:
3	chr10:25305234..25306057-chr15:91498102..91498607,2	Hela-S3	cervix:
4	chr10:25010539..25015061-chr10:25304353..25309032,5	K562	blood:
5	chr10:25305518..25306022-chr13:28195597..28196324,2	HCT-116	colon:
6	chr10:25009784..25012218-chr10:25304353..25306747,3	K562	blood:
7	chr10:25008982..25015736-chr10:25303520..25307645,9	MCF-7	breast:
8	chr10:25305336..25306093-chr7:5569046..5569893,2	Hela-S3	cervix:
9	chr10:24878368..24880293-chr10:25305161..25308124,2	K562	blood:
10	chr10:25305870..25307859-chr10:25312050..25313670,2	K562	blood:
11	chr10:25011203..25013801-chr10:25304621..25307891,5	MCF-7	breast:
12	chr10:25287153..25289677-chr10:25305591..25307248,2	K562	blood:
13	chr10:25239628..25245194-chr10:25304841..25307327,7	K562	blood:
14	chr10:24974642..24976201-chr10:25305799..25307344,2	MCF-7	breast:
15	chr10:25018793..25020691-chr10:25305744..25307257,2	K562	blood:
16	chr10:25305096..25306307-chr16:31190993..31192045,3	Hela-S3	cervix:

Variant related genes	Relation type
ENKUR	TF binding region
ENSG00000089280	Chromatin interaction
ENSG00000273107	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000166965	Chromatin interaction
ENSG00000107863	Chromatin interaction
ENSG00000099256	Chromatin interaction
ENSG00000186184	Chromatin interaction
ENSG00000258384	Chromatin interaction
ENSG00000199535	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1000875	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10508685	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10508686	0.98[ASN][1000 genomes]
rs10764515	0.87[ASN][1000 genomes]
rs10764516	0.96[ASN][1000 genomes]
rs10764517	0.97[ASN][1000 genomes]
rs10764518	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10828740	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10828741	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10828743	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10828744	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10828745	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10828747	0.83[ASN][1000 genomes]
rs11014347	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11014348	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11014349	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11014350	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11014351	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11014357	0.98[ASN][1000 genomes]
rs11014360	0.98[ASN][1000 genomes]
rs11014361	0.88[ASN][1000 genomes]
rs11014362	0.83[ASN][1000 genomes]
rs1124017	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11593926	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11598879	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12249889	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12256642	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12356765	0.98[ASN][1000 genomes]
rs12769388	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12776058	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12784769	0.88[ASN][1000 genomes]
rs1352982	0.84[ASN][1000 genomes]
rs1352984	0.97[ASN][1000 genomes]
rs1352985	0.98[ASN][1000 genomes]
rs1492608	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1546097	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1907791	0.84[ASN][1000 genomes]
rs2087782	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2131276	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2131277	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2220707	0.84[ASN][1000 genomes]
rs2279547	0.87[ASN][1000 genomes]
rs2291583	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291584	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291585	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291586	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2307047	0.80[ASN][1000 genomes]
rs2367506	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4345864	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4747509	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4747510	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4747511	0.98[ASN][1000 genomes]
rs4748993	0.91[ASN][1000 genomes]
rs4748994	0.88[ASN][1000 genomes]
rs4748996	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4748997	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4748998	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4748999	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4749000	0.84[ASN][1000 genomes]
rs4749001	0.83[ASN][1000 genomes]
rs60251099	0.83[ASN][1000 genomes]
rs6482467	0.94[ASN][1000 genomes]
rs6482468	0.84[ASN][1000 genomes]
rs7082131	0.97[ASN][1000 genomes]
rs7086282	0.98[ASN][1000 genomes]
rs7095364	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7393543	0.98[ASN][1000 genomes]
rs7913853	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs902903	0.80[ASN][1000 genomes]
rs902904	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs902905	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs950609	0.97[ASN][1000 genomes]
rs987274	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418576	chr10:25295995-25311122	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25303000-25306400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:25303200-25306600	Active TSS	Brain Anterior Caudate	brain
3	chr10:25303800-25306200	Active TSS	Brain Germinal Matrix	brain
4	chr10:25303800-25306400	Active TSS	Brain Hippocampus Middle	brain
5	chr10:25303800-25306600	Active TSS	Brain Cingulate Gyrus	brain
6	chr10:25303800-25306600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr10:25304000-25307000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:25304200-25306400	Active TSS	Fetal Brain Male	brain
9	chr10:25304200-25306600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:25304400-25306200	Active TSS	Brain Substantia Nigra	brain
11	chr10:25304400-25306200	Active TSS	K562	blood
12	chr10:25304400-25306600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr10:25304600-25306200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr10:25304600-25306200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr10:25304600-25306200	Active TSS	Rectal Smooth Muscle	rectum
16	chr10:25304600-25306200	Active TSS	NH-A	brain
17	chr10:25304600-25306400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:25304600-25306400	Active TSS	Ovary	ovary
19	chr10:25304600-25306400	Active TSS	NHLF	lung
20	chr10:25304600-25306600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr10:25304600-25306600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr10:25304600-25306600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr10:25304600-25306600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:25304600-25306600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:25304600-25306600	Active TSS	Fetal Kidney	kidney
26	chr10:25304600-25306600	Active TSS	Fetal Muscle Trunk	muscle
27	chr10:25304600-25306600	Active TSS	Fetal Stomach	stomach
28	chr10:25304600-25306600	Active TSS	Right Atrium	heart
29	chr10:25304600-25306600	Active TSS	Right Ventricle	heart
30	chr10:25304600-25306600	Active TSS	Stomach Smooth Muscle	stomach
31	chr10:25304600-25306600	Active TSS	HSMMtube	muscle
32	chr10:25304600-25306800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr10:25304600-25306800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:25304600-25306800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:25304600-25306800	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr10:25304600-25306800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:25304600-25306800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:25304600-25307000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr10:25304600-25307000	Active TSS	A549	lung
40	chr10:25304600-25307400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr10:25304800-25306200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:25304800-25306200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:25304800-25306200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr10:25304800-25306200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:25304800-25306200	Active TSS	Colon Smooth Muscle	Colon
46	chr10:25304800-25306200	Active TSS	Fetal Heart	heart
47	chr10:25304800-25306400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:25304800-25306400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:25304800-25306400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr10:25304800-25306400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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