Variant report

Variant	rs2234583
Chromosome Location	chr11:32456298-32456299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:142)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:142 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:32456089-32456352	K562	blood:	n/a	n/a
2	CTCF	chr11:32456131-32456320	GM19238	blood:	n/a	n/a
3	POLR2A	chr11:32455696-32457733	PFSK-1	brain:	n/a	n/a
4	CTCF	chr11:32456200-32456350	HCFaa	heart:	n/a	n/a
5	BACH1	chr11:32455973-32456381	H1-hESC	embryonic stem cell:	n/a	n/a
6	EP300	chr11:32456191-32456373	HepG2	liver:	n/a	n/a
7	CTCF	chr11:32455847-32456630	A549	lung:	n/a	n/a
8	SUZ12	chr11:32453725-32461544	NT2-D1	testis:	n/a	n/a
9	YY1	chr11:32455937-32456443	K562	blood:	n/a	chr11:32456093-32456104
10	CTCF	chr11:32456021-32456411	K562	blood:	n/a	n/a
11	JUN	chr11:32453532-32456818	K562	blood:	n/a	chr11:32453717-32453725
12	CTBP2	chr11:32454448-32456818	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:32455132-32457736	K562	blood:	n/a	n/a
14	CTCF	chr11:32456160-32456310	HPAF	blood vessel:	n/a	n/a
15	CEBPB	chr11:32456117-32456437	K562	blood:	n/a	n/a
16	POLR2A	chr11:32456219-32456500	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr11:32456006-32456372	K562	blood:	n/a	n/a
18	POLR2A	chr11:32453940-32456452	K562	blood:	n/a	n/a
19	MAX	chr11:32454537-32457687	K562	blood:	n/a	chr11:32457467-32457477
20	MYC	chr11:32456110-32456409	K562	blood:	n/a	n/a
21	MAX	chr11:32455170-32457723	K562	blood:	n/a	chr11:32457467-32457477
22	STAT5A	chr11:32455988-32456375	K562	blood:	n/a	n/a
23	SPI1	chr11:32455937-32456300	HL-60	blood:	n/a	n/a
24	SIN3AK20	chr11:32455880-32456524	K562	blood:	n/a	n/a
25	ZNF143	chr11:32456119-32456377	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr11:32456163-32456358	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAL1	chr11:32455399-32456659	K562	blood:	n/a	n/a
28	CTCF	chr11:32456180-32456330	Caco-2	colon:	n/a	n/a
29	MYC	chr11:32455256-32457710	NB4	blood:	n/a	chr11:32457467-32457477
30	CTCF	chr11:32456160-32456310	K562	blood:	n/a	n/a
31	CTCF	chr11:32456004-32456314	A549	lung:	n/a	n/a
32	TBP	chr11:32456121-32456355	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZC3H11A	chr11:32455820-32456370	K562	blood:	n/a	n/a
34	TCF7L2	chr11:32456214-32456452	PANC-1	pancreas:	n/a	n/a
35	CHD2	chr11:32456081-32456766	K562	blood:	n/a	n/a
36	POLR2A	chr11:32455724-32456537	K562	blood:	n/a	n/a
37	EGR1	chr11:32455713-32456655	K562	blood:	n/a	chr11:32455801-32455810
38	RCOR1	chr11:32454151-32456441	K562	blood:	n/a	n/a
39	HEY1	chr11:32455651-32456948	K562	blood:	n/a	chr11:32456092-32456107 chr11:32456933-32456948 chr11:32456201-32456216
40	TEAD4	chr11:32454979-32456457	K562	blood:	n/a	n/a
41	CTCF	chr11:32456125-32456313	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr11:32455989-32457631	A549	lung:	n/a	chr11:32457467-32457477
43	CREB1	chr11:32456112-32456340	A549	lung:	n/a	n/a
44	IRF1	chr11:32455262-32456419	K562	blood:	n/a	chr11:32455294-32455308
45	ELF1	chr11:32455942-32456469	K562	blood:	n/a	chr11:32456104-32456117
46	CTCF	chr11:32456200-32456350	GM12874	blood:	n/a	n/a
47	POLR2A	chr11:32456170-32456451	A549	lung:	n/a	n/a
48	CTCF	chr11:32456020-32456383	K562	blood:	n/a	n/a
49	TAF1	chr11:32455834-32456477	PFSK-1	brain:	n/a	n/a
50	FOXP2	chr11:32455924-32456481	PFSK-1	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32455369..32457971-chr11:32914210..32916339,2	K562	blood:
2	chr11:32455883..32456817-chr20:34329968..34330790,2	NB4	blood:
3	chr11:32455462..32457058-chr11:32608687..32611459,2	K562	blood:
4	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
5	chr11:32455134..32458517-chr11:32603988..32607695,5	K562	blood:
6	chr11:32453512..32456485-chr11:32618384..32621260,2	K562	blood:

No data

Variant related genes	Relation type
WT1-AS	TF binding region
WT1	TF binding region
ENSG00000060749	Chromatin interaction
ENSG00000149100	Chromatin interaction
ENSG00000131051	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11031782	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34250829	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34712216	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36106678	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5030121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030158	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59090256	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105964	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1051559	chr11:32447347-32465233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32450200-32457400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:32453400-32459600	Active TSS	Right Atrium	heart
3	chr11:32454400-32456400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr11:32454600-32456400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:32454600-32456400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:32454600-32456600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr11:32454600-32456600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr11:32454600-32456800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
9	chr11:32454600-32457000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:32454600-32458600	Bivalent/Poised TSS	Left Ventricle	heart
11	chr11:32454600-32458800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr11:32454600-32459800	Active TSS	Ovary	ovary
13	chr11:32454800-32456400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:32454800-32456400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
15	chr11:32454800-32456400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
16	chr11:32454800-32456600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:32454800-32456600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr11:32454800-32457800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:32454800-32457800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:32454800-32458200	Bivalent Enhancer	Esophagus	oesophagus
21	chr11:32454800-32458600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr11:32455000-32457400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:32455000-32459400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr11:32455200-32456600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr11:32455200-32456600	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr11:32455200-32457200	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr11:32455200-32458200	Enhancers	Pancreas	Pancrea
28	chr11:32455400-32456400	Flanking Active TSS	Right Ventricle	heart
29	chr11:32455600-32456400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:32455600-32456400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
31	chr11:32455600-32456600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:32455600-32456800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr11:32455600-32456800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr11:32455600-32457200	Active TSS	A549	lung
35	chr11:32455800-32456400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:32455800-32456400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:32455800-32456400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:32455800-32456400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:32455800-32456400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr11:32455800-32456400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
41	chr11:32455800-32456600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:32455800-32456600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:32455800-32457000	Bivalent Enhancer	Fetal Brain Male	brain
44	chr11:32455800-32457200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:32455800-32457200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr11:32455800-32457200	Active TSS	K562	blood
47	chr11:32455800-32458000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
48	chr11:32455800-32459000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:32456000-32456400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
50	chr11:32456000-32456400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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