Variant report

Variant	rs2234580
Chromosome Location	chr11:32457138-32457139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr11:32456989-32457529	K562	blood:	n/a	n/a
2	TCF12	chr11:32457047-32457406	ECC-1	luminal epithelium:	n/a	n/a
3	SPI1	chr11:32456624-32457357	HL-60	blood:	n/a	chr11:32456894-32456901 chr11:32456893-32456902
4	RCOR1	chr11:32457019-32457684	K562	blood:	n/a	n/a
5	POLR2A	chr11:32455696-32457733	PFSK-1	brain:	n/a	n/a
6	BHLHE40	chr11:32456917-32457665	K562	blood:	n/a	n/a
7	RAD21	chr11:32457105-32457230	K562	blood:	n/a	n/a
8	TAF1	chr11:32457030-32457365	K562	blood:	n/a	n/a
9	MAX	chr11:32456535-32457698	ECC-1	luminal epithelium:	n/a	chr11:32457467-32457477
10	POLR2A	chr11:32457044-32457328	Gliobla	brain:	n/a	n/a
11	SUZ12	chr11:32453725-32461544	NT2-D1	testis:	n/a	n/a
12	POLR2A	chr11:32455132-32457736	K562	blood:	n/a	n/a
13	FOXP2	chr11:32456993-32457415	PFSK-1	brain:	n/a	n/a
14	ELF1	chr11:32456957-32457431	K562	blood:	n/a	n/a
15	TAL1	chr11:32457032-32457657	K562	blood:	n/a	n/a
16	MAX	chr11:32454537-32457687	K562	blood:	n/a	chr11:32457467-32457477
17	MAX	chr11:32455170-32457723	K562	blood:	n/a	chr11:32457467-32457477
18	SETDB1	chr11:32457138-32458796	K562	blood:	n/a	n/a
19	MYC	chr11:32457078-32457447	K562	blood:	n/a	n/a
20	CTCF	chr11:32457100-32457250	HCM	heart:	n/a	n/a
21	MYC	chr11:32455256-32457710	NB4	blood:	n/a	chr11:32457467-32457477
22	CTCF	chr11:32457114-32457306	A549	lung:	n/a	n/a
23	E2F6	chr11:32456962-32457627	K562	blood:	n/a	chr11:32457491-32457503 chr11:32457008-32457017
24	JUND	chr11:32456743-32457634	K562	blood:	n/a	n/a
25	NR2F2	chr11:32457124-32457608	K562	blood:	n/a	n/a
26	IRF1	chr11:32457029-32457483	K562	blood:	n/a	n/a
27	MAX	chr11:32455989-32457631	A549	lung:	n/a	chr11:32457467-32457477
28	E2F6	chr11:32457054-32457768	H1-hESC	embryonic stem cell:	n/a	chr11:32457491-32457503
29	CBX3	chr11:32457000-32457776	K562	blood:	n/a	n/a
30	CTBP2	chr11:32457051-32458830	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr11:32457093-32457433	K562	blood:	n/a	n/a
32	CTCF	chr11:32457120-32457270	HEK293	kidney:	n/a	n/a
33	HCFC1	chr11:32457048-32457430	K562	blood:	n/a	n/a
34	ETS1	chr11:32457001-32457336	K562	blood:	n/a	n/a
35	E2F6	chr11:32456057-32457617	A549	lung:	n/a	chr11:32457491-32457503 chr11:32456933-32456943 chr11:32456097-32456107 chr11:32457008-32457017
36	MAX	chr11:32455940-32457708	A549	lung:	n/a	chr11:32457467-32457477
37	MAX	chr11:32454143-32458628	NB4	blood:	n/a	chr11:32457467-32457477
38	MYC	chr11:32455104-32457646	K562	blood:	n/a	chr11:32457467-32457477
39	POLR2A	chr11:32456999-32457415	A549	lung:	n/a	n/a
40	MAX	chr11:32456984-32457532	K562	blood:	n/a	chr11:32457467-32457477
41	ZNF263	chr11:32455573-32457559	HEK293-T-REx	kidney:	n/a	chr11:32456089-32456098
42	ZNF143	chr11:32457110-32457672	K562	blood:	n/a	n/a
43	POLR2A	chr11:32456976-32457277	A549	lung:	n/a	n/a
44	CTCFL	chr11:32457055-32457281	K562	blood:	n/a	n/a
45	POLR2A	chr11:32453980-32457577	K562	blood:	n/a	n/a
46	SIN3AK20	chr11:32457118-32457532	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr11:32456996-32457522	PANC-1	pancreas:	n/a	n/a
48	YY1	chr11:32456998-32457503	K562	blood:	n/a	n/a
49	SIN3AK20	chr11:32456956-32457930	PANC-1	pancreas:	n/a	n/a
50	HEY1	chr11:32456970-32457501	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:32457127-32457177	AoSMC	blood vessel:	n/a
2	chr11:32457124-32457174	HEEpiC	esophagus:	n/a
3	chr11:32457130-32457180	IMR90	lung:	fetal
4	chr11:32457124-32457174	H1-hESC	embryonic stem cell:	embryo
5	chr11:32457130-32457180	SAEC	small airway:	n/a
6	chr11:32457127-32457177	BJ	skin:	n/a
7	chr11:32457124-32457174	HUVEC	blood vessel:	n/a
8	chr11:32457130-32457180	GM12892	blood:	n/a
9	chr11:32457124-32457174	RPTEC	kidney:	n/a
10	chr11:32457130-32457180	HRE	kidney:	n/a
11	chr11:32457124-32457174	AG04450	lung:	fetal
12	chr11:32457124-32457174	SK-N-SH	brain:	n/a
13	chr11:32457127-32457177	PANC-1	pancreas:	n/a
14	chr11:32457127-32457177	NHDF-neo	bronchial:	n/a
15	chr11:32457124-32457174	T-47D	breast:	n/a
16	chr11:32457130-32457180	CMK	blood:	n/a
17	chr11:32457127-32457177	AG09309	skin:	n/a
18	chr11:32457127-32457177	HL-60	blood:	n/a
19	chr11:32457130-32457180	U87	brain:	n/a
20	chr11:32457127-32457177	HCM	heart:	n/a
21	chr11:32457130-32457180	AG09319	gingival:	n/a
22	chr11:32457124-32457174	ECC-1	luminal epithelium:	n/a
23	chr11:32457124-32457174	Hela-S3	cervix:	n/a
24	chr11:32457124-32457174	K562	blood:	n/a
25	chr11:32457130-32457180	SK-N-SH_RA	brain:	n/a
26	chr11:32457127-32457177	Hela-S3	cervix:	n/a
27	chr11:32457130-32457180	ProgFib	skin:	n/a
28	chr11:32457124-32457174	Jurkat	blood:	n/a
29	chr11:32457127-32457177	Hepatocyte	liver:	n/a
30	chr11:32457130-32457180	AG04449	skin:	fetal
31	chr11:32457124-32457174	GM06990	blood:	n/a
32	chr11:32457130-32457180	AG10803	skin:	n/a
33	chr11:32457130-32457180	Hepatocyte	liver:	n/a
34	chr11:32457127-32457177	HNPCEpiC	eye:	n/a
35	chr11:32457130-32457180	MCF-7	breast:	n/a
36	chr11:32457127-32457177	GM06990	blood:	n/a
37	chr11:32457127-32457177	SK-N-SH	brain:	n/a
38	chr11:32457124-32457174	HRPEpiC	eye:	n/a
39	chr11:32457127-32457177	MCF-7	breast:	n/a
40	chr11:32457124-32457174	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:32457127-32457177	HEK293	kidney:	embryo
42	chr11:32457130-32457180	HCM	heart:	n/a
43	chr11:32457130-32457180	NHDF-neo	bronchial:	n/a
44	chr11:32457124-32457174	PFSK-1	brain:	n/a
45	chr11:32457127-32457177	HRE	kidney:	n/a
46	chr11:32457124-32457174	IMR90	lung:	fetal
47	chr11:32457127-32457177	HRCEpiC	kidney:	n/a
48	chr11:32457124-32457174	HCF	heart:	n/a
49	chr11:32457130-32457180	HCPEpiC	choroid plexus:	n/a
50	chr11:32457124-32457174	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:32455369..32457971-chr11:32914210..32916339,2	K562	blood:
2	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
3	chr11:32455134..32458517-chr11:32603988..32607695,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3M-2	chr11:32457125-32457392	ENSG00000183242
2	lnc-EIF3M-2	chr11:32457064-32457392	ENSG00000183242

No data

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

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10742277	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11031783	0.90[ASN][1000 genomes]
rs11031784	0.90[ASN][1000 genomes]
rs2234585	0.83[ASN][1000 genomes]
rs2301250	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301251	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301252	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301253	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301254	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809060	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809061	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809062	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3858446	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3858447	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3858448	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3886325	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3930513	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140413	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4275604	0.84[AFR][1000 genomes]
rs5030171	0.83[ASN][1000 genomes]
rs5030176	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5030178	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5030179	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7103000	0.83[AFR][1000 genomes]
rs7110547	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7120686	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][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:69 , 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	chr11:32454600-32458600	Bivalent/Poised TSS	Left Ventricle	heart
4	chr11:32454600-32458800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
5	chr11:32454600-32459800	Active TSS	Ovary	ovary
6	chr11:32454800-32457800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:32454800-32457800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:32454800-32458200	Bivalent Enhancer	Esophagus	oesophagus
9	chr11:32454800-32458600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr11:32455000-32457400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:32455000-32459400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr11:32455200-32457200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr11:32455200-32458200	Enhancers	Pancreas	Pancrea
14	chr11:32455600-32457200	Active TSS	A549	lung
15	chr11:32455800-32457200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:32455800-32457200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
17	chr11:32455800-32457200	Active TSS	K562	blood
18	chr11:32455800-32458000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr11:32455800-32459000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:32456000-32457200	Bivalent/Poised TSS	Psoas Muscle	Psoas
21	chr11:32456000-32457200	Bivalent/Poised TSS	HepG2	liver
22	chr11:32456000-32457400	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr11:32456000-32457400	Bivalent Enhancer	Placenta	Placenta
24	chr11:32456000-32457600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr11:32456000-32458600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:32456000-32458600	Bivalent Enhancer	Lung	lung
27	chr11:32456200-32458200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:32456200-32458600	Enhancers	Gastric	stomach
29	chr11:32456400-32457200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr11:32456400-32457200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:32456400-32457200	Enhancers	Liver	Liver
32	chr11:32456400-32457200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr11:32456400-32457200	Bivalent Enhancer	Fetal Thymus	thymus
34	chr11:32456400-32457400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr11:32456400-32457400	Bivalent Enhancer	HMEC	breast
36	chr11:32456400-32457600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:32456400-32457600	Bivalent Enhancer	Fetal Stomach	stomach
38	chr11:32456400-32457600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr11:32456400-32458400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr11:32456400-32458600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr11:32456400-32459000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr11:32456600-32457200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:32456600-32457800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:32456800-32457200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr11:32456800-32457200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
46	chr11:32456800-32457200	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:32456800-32457200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:32456800-32457200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:32456800-32457200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:32456800-32457200	Bivalent Enhancer	Colonic Mucosa	Colon

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