Variant report

Variant	rs5030139
Chromosome Location	chr11:32456085-32456086
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr11:32456081-32456293	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:32455696-32457733	PFSK-1	brain:	n/a	n/a
3	BACH1	chr11:32455973-32456381	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:32455847-32456630	A549	lung:	n/a	n/a
5	SUZ12	chr11:32453725-32461544	NT2-D1	testis:	n/a	n/a
6	CTCF	chr11:32456080-32456230	HRE	kidney:	n/a	n/a
7	YY1	chr11:32455937-32456443	K562	blood:	n/a	chr11:32456093-32456104
8	CTCF	chr11:32456021-32456411	K562	blood:	n/a	n/a
9	JUN	chr11:32453532-32456818	K562	blood:	n/a	chr11:32453717-32453725
10	CTBP2	chr11:32454448-32456818	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:32455132-32457736	K562	blood:	n/a	n/a
12	CTCF	chr11:32456006-32456372	K562	blood:	n/a	n/a
13	POLR2A	chr11:32453940-32456452	K562	blood:	n/a	n/a
14	MAX	chr11:32454537-32457687	K562	blood:	n/a	chr11:32457467-32457477
15	MAX	chr11:32455170-32457723	K562	blood:	n/a	chr11:32457467-32457477
16	STAT5A	chr11:32455988-32456375	K562	blood:	n/a	n/a
17	SPI1	chr11:32455937-32456300	HL-60	blood:	n/a	n/a
18	SIN3AK20	chr11:32455880-32456524	K562	blood:	n/a	n/a
19	TAL1	chr11:32455399-32456659	K562	blood:	n/a	n/a
20	MYC	chr11:32455256-32457710	NB4	blood:	n/a	chr11:32457467-32457477
21	CTCF	chr11:32456004-32456314	A549	lung:	n/a	n/a
22	ZC3H11A	chr11:32455820-32456370	K562	blood:	n/a	n/a
23	CHD2	chr11:32456081-32456766	K562	blood:	n/a	n/a
24	POLR2A	chr11:32455724-32456537	K562	blood:	n/a	n/a
25	EGR1	chr11:32455713-32456655	K562	blood:	n/a	chr11:32455801-32455810
26	RCOR1	chr11:32454151-32456441	K562	blood:	n/a	n/a
27	HEY1	chr11:32455651-32456948	K562	blood:	n/a	chr11:32456092-32456107 chr11:32456933-32456948 chr11:32456201-32456216
28	TEAD4	chr11:32454979-32456457	K562	blood:	n/a	n/a
29	MAX	chr11:32455989-32457631	A549	lung:	n/a	chr11:32457467-32457477
30	IRF1	chr11:32455262-32456419	K562	blood:	n/a	chr11:32455294-32455308
31	ELF1	chr11:32455942-32456469	K562	blood:	n/a	chr11:32456104-32456117
32	CTCF	chr11:32456020-32456383	K562	blood:	n/a	n/a
33	TAF1	chr11:32455834-32456477	PFSK-1	brain:	n/a	n/a
34	FOXP2	chr11:32455924-32456481	PFSK-1	brain:	n/a	n/a
35	E2F6	chr11:32455956-32456537	K562	blood:	n/a	chr11:32456097-32456107
36	E2F6	chr11:32456057-32457617	A549	lung:	n/a	chr11:32457491-32457503 chr11:32456933-32456943 chr11:32456097-32456107 chr11:32457008-32457017
37	MAX	chr11:32455940-32457708	A549	lung:	n/a	chr11:32457467-32457477
38	MAX	chr11:32454143-32458628	NB4	blood:	n/a	chr11:32457467-32457477
39	MYC	chr11:32455104-32457646	K562	blood:	n/a	chr11:32457467-32457477
40	ZNF263	chr11:32455573-32457559	HEK293-T-REx	kidney:	n/a	chr11:32456089-32456098
41	JUND	chr11:32454141-32456484	K562	blood:	n/a	n/a
42	SMC3	chr11:32456004-32456209	K562	blood:	n/a	n/a
43	POLR2A	chr11:32453980-32457577	K562	blood:	n/a	n/a
44	CBX3	chr11:32455679-32456442	K562	blood:	n/a	n/a
45	REST	chr11:32455487-32456475	HL-60	blood:	n/a	chr11:32455640-32455647 chr11:32455796-32455816
46	ETS1	chr11:32455849-32456493	K562	blood:	n/a	chr11:32455949-32455962 chr11:32456103-32456113
47	ZMIZ1	chr11:32455324-32456379	K562	blood:	n/a	n/a
48	CEBPB	chr11:32456077-32456412	K562	blood:	n/a	n/a
49	SIN3AK20	chr11:32455831-32456401	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr11:32455061-32456487	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:32456069-32456119	MCF10A-Er-Src	breast:	n/a
2	chr11:32456069-32456119	AG09319	gingival:	n/a
3	chr11:32456069-32456119	SKMC	muscle:	n/a
4	chr11:32456069-32456119	HRE	kidney:	n/a
5	chr11:32456069-32456119	HMEC	breast:	n/a
6	chr11:32456069-32456119	HEK293	kidney:	embryo
7	chr11:32456069-32456119	NT2-D1	testis:	n/a
8	chr11:32456069-32456119	HepG2	liver:	n/a
9	chr11:32456069-32456119	ProgFib	skin:	n/a
10	chr11:32456069-32456119	IMR90	lung:	fetal
11	chr11:32456069-32456119	BE2_C	brain:	n/a
12	chr11:32456069-32456119	PFSK-1	brain:	n/a
13	chr11:32456069-32456119	LNCaP	prostate:	n/a
14	chr11:32456069-32456119	K562	blood:	n/a
15	chr11:32456069-32456119	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:32456069-32456119	AG04449	skin:	fetal
17	chr11:32456069-32456119	HIPEpiC	eye:	n/a
18	chr11:32456069-32456119	ovcar-3	ovarian:	n/a
19	chr11:32456069-32456119	HEEpiC	esophagus:	n/a
20	chr11:32456069-32456119	HL-60	blood:	n/a
21	chr11:32456069-32456119	Jurkat	blood:	n/a
22	chr11:32456069-32456119	H1-hESC	embryonic stem cell:	embryo
23	chr11:32456069-32456119	CMK	blood:	n/a
24	chr11:32456069-32456119	GM12878	blood:	n/a
25	chr11:32456069-32456119	HAEpiC	amniotic membrane:	n/a
26	chr11:32456069-32456119	Hepatocyte	liver:	n/a
27	chr11:32456069-32456119	GM12892	blood:	n/a
28	chr11:32456069-32456119	BJ	skin:	n/a
29	chr11:32456069-32456119	HUVEC	blood vessel:	n/a
30	chr11:32456069-32456119	HCF	heart:	n/a
31	chr11:32456069-32456119	HCT-116	colon:	n/a
32	chr11:32456069-32456119	Hela-S3	cervix:	n/a
33	chr11:32456069-32456119	NB4	blood:	n/a
34	chr11:32456069-32456119	NH-A	brain:	n/a
35	chr11:32456069-32456119	SK-N-SH	brain:	n/a
36	chr11:32456069-32456119	SAEC	small airway:	n/a
37	chr11:32456069-32456119	T-47D	breast:	n/a
38	chr11:32456069-32456119	HRCEpiC	kidney:	n/a
39	chr11:32456069-32456119	AG09309	skin:	n/a
40	chr11:32456069-32456119	NHBE	bronchial:	n/a
41	chr11:32456069-32456119	GM06990	blood:	n/a
42	chr11:32456069-32456119	U87	brain:	n/a
43	chr11:32456069-32456119	AG04450	lung:	fetal
44	chr11:32456069-32456119	SK-N-SH_RA	brain:	n/a
45	chr11:32456069-32456119	AoSMC	blood vessel:	n/a
46	chr11:32456069-32456119	MCF-7	breast:	n/a
47	chr11:32456069-32456119	HCM	heart:	n/a
48	chr11:32456069-32456119	RPTEC	kidney:	n/a
49	chr11:32456069-32456119	HRPEpiC	eye:	n/a
50	chr11:32456069-32456119	PANC-1	pancreas:	n/a

(count:7 , 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	chr11:32455544..32456179-chr21:40555264..40555769,2	NB4	blood:
7	chr11:32453512..32456485-chr11:32618384..32621260,2	K562	blood:

No data

Variant related genes	Relation type
WT1	TF binding region
WT1-AS	TF binding region
WT1	CpG island
WT1-AS	CpG island
ENSG00000183527	Chromatin interaction
ENSG00000149100	Chromatin interaction
ENSG00000060749	Chromatin interaction
ENSG00000131051	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11031794	0.82[ASN][1000 genomes]
rs12276484	1.00[EUR][1000 genomes]
rs12286409	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12293750	1.00[ASN][1000 genomes]
rs12294274	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5030181	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57253978	1.00[EUR][1000 genomes];1.00[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:85 , 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	chr11:32454400-32456200	Bivalent Enhancer	Liver	Liver
4	chr11:32454400-32456200	Bivalent/Poised TSS	Fetal Kidney	kidney
5	chr11:32454400-32456400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr11:32454600-32456400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:32454600-32456400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:32454600-32456600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr11:32454600-32456600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
10	chr11:32454600-32456800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
11	chr11:32454600-32457000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:32454600-32458600	Bivalent/Poised TSS	Left Ventricle	heart
13	chr11:32454600-32458800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr11:32454600-32459800	Active TSS	Ovary	ovary
15	chr11:32454800-32456200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr11:32454800-32456200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:32454800-32456200	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr11:32454800-32456200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr11:32454800-32456400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:32454800-32456400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
21	chr11:32454800-32456400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
22	chr11:32454800-32456600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:32454800-32456600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr11:32454800-32457800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:32454800-32457800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:32454800-32458200	Bivalent Enhancer	Esophagus	oesophagus
27	chr11:32454800-32458600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr11:32455000-32457400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr11:32455000-32459400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr11:32455200-32456200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr11:32455200-32456200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr11:32455200-32456200	Bivalent Enhancer	Fetal Heart	heart
33	chr11:32455200-32456200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr11:32455200-32456600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr11:32455200-32456600	Bivalent Enhancer	Brain Germinal Matrix	brain
36	chr11:32455200-32457200	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr11:32455200-32458200	Enhancers	Pancreas	Pancrea
38	chr11:32455400-32456200	Bivalent Enhancer	Brain Substantia Nigra	brain
39	chr11:32455400-32456400	Flanking Active TSS	Right Ventricle	heart
40	chr11:32455600-32456400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:32455600-32456400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
42	chr11:32455600-32456600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:32455600-32456800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr11:32455600-32456800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr11:32455600-32457200	Active TSS	A549	lung
46	chr11:32455800-32456200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
47	chr11:32455800-32456400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr11:32455800-32456400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:32455800-32456400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:32455800-32456400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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