Variant report

Variant	rs11573589
Chromosome Location	chr1:45292483-45292484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr1:45292075-45292546	GM12878	blood:	n/a	n/a
2	HEY1	chr1:45291868-45293383	HepG2	liver:	n/a	n/a
3	ZBTB7A	chr1:45292135-45292603	K562	blood:	n/a	n/a
4	POLR2A	chr1:45291998-45292853	HL-60	blood:	n/a	n/a
5	BHLHE40	chr1:45292115-45292619	HepG2	liver:	n/a	n/a
6	EGR1	chr1:45292325-45292716	K562	blood:	n/a	n/a
7	YY1	chr1:45292201-45292502	K562	blood:	n/a	n/a
8	MAX	chr1:45291813-45292585	HepG2	liver:	n/a	n/a
9	ELF1	chr1:45292051-45292617	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:45291885-45293357	HepG2	liver:	n/a	n/a
11	MXI1	chr1:45291868-45292646	HepG2	liver:	n/a	n/a
12	MAZ	chr1:45292124-45292628	HepG2	liver:	n/a	n/a
13	JUND	chr1:45292280-45292555	HepG2	liver:	n/a	n/a
14	HMGN3	chr1:45292160-45292626	K562	blood:	n/a	n/a
15	MAX	chr1:45291745-45292624	K562	blood:	n/a	n/a
16	HDAC2	chr1:45292008-45292627	HepG2	liver:	n/a	n/a
17	NFIC	chr1:45292298-45292579	HepG2	liver:	n/a	n/a
18	MAX	chr1:45291776-45293815	HepG2	liver:	n/a	n/a
19	MYC	chr1:45291900-45292585	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:45291945-45293199	HepG2	liver:	n/a	n/a
21	EP300	chr1:45292237-45292736	HepG2	liver:	n/a	n/a
22	MYBL2	chr1:45291668-45293301	HepG2	liver:	n/a	n/a
23	MAZ	chr1:45292278-45292640	K562	blood:	n/a	n/a
24	POLR2A	chr1:45292238-45292555	K562	blood:	n/a	n/a
25	HNF4G	chr1:45292115-45292588	HepG2	liver:	n/a	n/a
26	RAD21	chr1:45292415-45292545	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr1:45292420-45292647	HepG2	liver:	n/a	n/a
28	MAX	chr1:45291733-45293562	HepG2	liver:	n/a	n/a
29	HEY1	chr1:45291847-45292830	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:45291847-45292814	HepG2	liver:	n/a	n/a
31	MAX	chr1:45292341-45292536	K562	blood:	n/a	n/a
32	POLR2A	chr1:45291993-45293179	HepG2	liver:	n/a	n/a
33	POLR2A	chr1:45292104-45292774	HepG2	liver:	n/a	n/a
34	YY1	chr1:45292171-45293417	HepG2	liver:	n/a	chr1:45292897-45292914
35	POLR2A	chr1:45292317-45292487	K562	blood:	n/a	n/a
36	TBP	chr1:45292240-45292586	HepG2	liver:	n/a	n/a
37	SPI1	chr1:45292068-45292713	HL-60	blood:	n/a	chr1:45292134-45292147
38	RFX5	chr1:45292372-45292789	HepG2	liver:	n/a	n/a
39	EGR1	chr1:45292365-45292696	K562	blood:	n/a	n/a
40	CEBPD	chr1:45292140-45292633	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:45292054-45292704	HepG2	liver:	n/a	n/a
42	MAFF	chr1:45292007-45292553	HepG2	liver:	n/a	n/a
43	BHLHE40	chr1:45292192-45292626	K562	blood:	n/a	n/a
44	SPI1	chr1:45292199-45292519	K562	blood:	n/a	n/a
45	TAF1	chr1:45292069-45292717	HepG2	liver:	n/a	n/a
46	ZNF143	chr1:45292400-45292498	K562	blood:	n/a	n/a
47	POLR2A	chr1:45291916-45293430	HepG2	liver:	n/a	n/a
48	E2F6	chr1:45292209-45292548	K562	blood:	n/a	n/a
49	RCOR1	chr1:45292165-45292594	HepG2	liver:	n/a	n/a
50	ELF1	chr1:45292148-45292508	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
2	chr1:45291869..45293559-chr1:45808608..45811445,2	K562	blood:
3	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
4	chr1:45291550..45293637-chr1:45804326..45806718,2	K562	blood:
5	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

No data

Variant related genes	Relation type
PTCH2	TF binding region
ENSG00000264294	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000234093	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11211042	0.87[YRI][hapmap]
rs11211049	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092104	0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095412	0.87[YRI][hapmap]
rs12095987	1.00[AMR][1000 genomes]
rs6429551	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694697	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532882	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
9	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
11	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45286200-45301800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:45286400-45308400	Weak transcription	Aorta	Aorta
3	chr1:45286600-45299400	Weak transcription	Primary B cells from cord blood	blood
4	chr1:45286600-45301600	Weak transcription	Right Atrium	heart
5	chr1:45286600-45301800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:45286800-45301600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:45287000-45301800	Weak transcription	Thymus	Thymus
8	chr1:45287200-45293800	Weak transcription	Fetal Lung	lung
9	chr1:45287200-45295000	Weak transcription	Brain Substantia Nigra	brain
10	chr1:45287200-45307400	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:45289400-45307600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:45291600-45293200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:45291600-45293400	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:45291800-45292600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:45291800-45292600	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr1:45291800-45292600	Weak transcription	Placenta	Placenta
17	chr1:45291800-45292800	Enhancers	Lung	lung
18	chr1:45291800-45292800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:45291800-45292800	Enhancers	Spleen	Spleen
20	chr1:45291800-45293000	Genic enhancers	Fetal Muscle Leg	muscle
21	chr1:45291800-45293000	Enhancers	K562	blood
22	chr1:45291800-45293000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr1:45291800-45295200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:45291800-45295400	Strong transcription	Fetal Brain Female	brain
25	chr1:45291800-45295800	Strong transcription	Brain Germinal Matrix	brain
26	chr1:45291800-45297000	Strong transcription	Ovary	ovary
27	chr1:45291800-45298800	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr1:45292000-45292600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:45292000-45292600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr1:45292000-45292600	Genic enhancers	Fetal Stomach	stomach
31	chr1:45292000-45292800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:45292000-45292800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:45292000-45292800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr1:45292000-45292800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:45292000-45292800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:45292000-45292800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:45292000-45292800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:45292000-45292800	Enhancers	Fetal Thymus	thymus
39	chr1:45292000-45292800	Genic enhancers	Stomach Smooth Muscle	stomach
40	chr1:45292000-45293000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:45292000-45293200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:45292000-45293800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:45292200-45292600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:45292200-45292600	Enhancers	Esophagus	oesophagus
45	chr1:45292200-45292600	Enhancers	Right Ventricle	heart
46	chr1:45292200-45292800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr1:45292200-45292800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:45292200-45293200	Weak transcription	Pancreas	Pancrea
49	chr1:45292200-45293200	Active TSS	HepG2	liver
50	chr1:45292200-45293400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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