Variant report

Variant	rs11212727
Chromosome Location	chr11:108464799-108464800
allele	C/G
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	SIN3AK20	chr11:108463964-108464864	MCF-7	breast:	n/a	n/a
2	GATA3	chr11:108463713-108464908	T-47D	breast:	n/a	n/a
3	ELF1	chr11:108464380-108465045	K562	blood:	n/a	n/a
4	UBTF	chr11:108463449-108464929	K562	blood:	n/a	n/a
5	TAL1	chr11:108464064-108465039	K562	blood:	n/a	n/a
6	RFX5	chr11:108464153-108464879	Hela-S3	cervix:	n/a	n/a
7	FOXA2	chr11:108464139-108464801	A549	lung:	n/a	n/a
8	TEAD4	chr11:108464243-108464843	HepG2	liver:	n/a	n/a
9	FOXA1	chr11:108464182-108464916	HepG2	liver:	n/a	n/a
10	HCFC1	chr11:108464062-108464966	K562	blood:	n/a	n/a
11	HA-E2F1	chr11:108463966-108464889	MCF-7	breast:	n/a	chr11:108464696-108464707 chr11:108464696-108464707 chr11:108464693-108464710 chr11:108464700-108464707 chr11:108464696-108464707 chr11:108464696-108464707 chr11:108464696-108464707
12	FOS	chr11:108464174-108464805	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:108463472-108464813	K562	blood:	n/a	n/a
14	FOS	chr11:108464198-108464821	MCF10A-Er-Src	breast:	n/a	n/a
15	ARID3A	chr11:108464114-108464941	K562	blood:	n/a	n/a
16	EP300	chr11:108464362-108464968	GM12878	blood:	n/a	chr11:108464644-108464654
17	FOXA1	chr11:108464180-108464807	HepG2	liver:	n/a	n/a
18	NFYB	chr11:108464191-108464863	K562	blood:	n/a	n/a
19	MXI1	chr11:108464207-108464859	K562	blood:	n/a	n/a
20	TBP	chr11:108463514-108464908	K562	blood:	n/a	n/a
21	ZMIZ1	chr11:108464098-108464920	K562	blood:	n/a	n/a
22	POLR2A	chr11:108464036-108464854	HCT-116	colon:	n/a	n/a
23	TCF12	chr11:108463831-108464867	ECC-1	luminal epithelium:	n/a	chr11:108464645-108464654
24	MAX	chr11:108463259-108465023	HCT-116	colon:	n/a	chr11:108463722-108463737 chr11:108463724-108463733 chr11:108463723-108463734 chr11:108463812-108463821 chr11:108463725-108463732 chr11:108463724-108463734
25	HEY1	chr11:108464113-108464810	K562	blood:	n/a	n/a
26	ZNF263	chr11:108464359-108464842	K562	blood:	n/a	chr11:108464554-108464575 chr11:108464590-108464611
27	GATA3	chr11:108464086-108464853	T-47D	breast:	n/a	n/a
28	SP1	chr11:108464091-108464805	K562	blood:	n/a	chr11:108464564-108464575 chr11:108464381-108464388 chr11:108464552-108464563 chr11:108464533-108464544
29	FOXA2	chr11:108464173-108464854	A549	lung:	n/a	n/a
30	FOXA1	chr11:108464211-108464865	HepG2	liver:	n/a	n/a
31	MXI1	chr11:108463490-108464920	GM12878	blood:	n/a	chr11:108463725-108463734
32	TBL1XR1	chr11:108464197-108465072	K562	blood:	n/a	n/a
33	BRCA1	chr11:108464169-108464855	Hela-S3	cervix:	n/a	n/a
34	IRF1	chr11:108464176-108464821	K562	blood:	n/a	chr11:108464364-108464373
35	FOXA1	chr11:108464173-108464882	T-47D	breast:	n/a	n/a
36	HEY1	chr11:108463979-108464835	K562	blood:	n/a	chr11:108464048-108464063 chr11:108464020-108464035
37	MYC	chr11:108463355-108464969	K562	blood:	n/a	chr11:108463722-108463737 chr11:108463724-108463733 chr11:108463723-108463734 chr11:108463812-108463821 chr11:108463725-108463732 chr11:108463724-108463734
38	POLR2A	chr11:108464001-108464825	Hela-S3	cervix:	n/a	n/a
39	NFYB	chr11:108464201-108464814	Hela-S3	cervix:	n/a	n/a
40	FOS	chr11:108464157-108464846	MCF10A-Er-Src	breast:	n/a	n/a
41	RCOR1	chr11:108463609-108464949	K562	blood:	n/a	n/a
42	NFYB	chr11:108464094-108464900	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:108464091-108464854	HCT-116	colon:	n/a	n/a
44	FOXA2	chr11:108464150-108465177	HepG2	liver:	n/a	n/a
45	ARID3A	chr11:108464166-108464856	HepG2	liver:	n/a	n/a
46	TEAD4	chr11:108463991-108464956	K562	blood:	n/a	n/a
47	SP4	chr11:108464361-108464829	H1-hESC	embryonic stem cell:	n/a	chr11:108464564-108464575 chr11:108464552-108464563 chr11:108464533-108464544
48	CEBPB	chr11:108464132-108464858	K562	blood:	n/a	n/a
49	KAP1	chr11:108464096-108465182	U2OS	brain:	n/a	n/a
50	MAX	chr11:108463344-108464840	ECC-1	luminal epithelium:	n/a	chr11:108463722-108463737 chr11:108463724-108463733 chr11:108463723-108463734 chr11:108463812-108463821 chr11:108463725-108463732 chr11:108463724-108463734

No.	Distal block	Cell Line	Cell type
1	chr11:108339716..108342136-chr11:108463362..108464955,2	K562	blood:
2	chr11:108092600..108095376-chr11:108462934..108465266,2	MCF-7	breast:
3	chr11:108367402..108370460-chr11:108461670..108466033,4	K562	blood:
4	chr11:107992260..107994270-chr11:108463431..108465424,2	K562	blood:
5	chr11:108365650..108370333-chr11:108462736..108466617,7	K562	blood:
6	chr11:108366826..108370827-chr11:108463038..108466989,6	MCF-7	breast:
7	chr11:108332332..108333917-chr11:108462867..108465354,2	K562	blood:
8	chr11:108091790..108094967-chr11:108462852..108466169,3	K562	blood:
9	chr11:108464637..108466466-chr11:108472735..108474292,2	MCF-7	breast:
10	chr11:108422127..108426041-chr11:108463043..108466411,3	K562	blood:

Variant related genes	Relation type
EXPH5	TF binding region
ENSG00000255467	Chromatin interaction
ENSG00000149308	Chromatin interaction
ENSG00000110723	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000221607	Chromatin interaction
ENSG00000166323	Chromatin interaction
ENSG00000075239	Chromatin interaction
ENSG00000178202	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11212717	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11212721	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11212722	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11821686	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11823000	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11825512	0.85[ASN][1000 genomes]
rs11825762	1.00[CHB][hapmap];0.82[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271426	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12286270	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12287442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754329	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7101637	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs7105408	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7127516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108462600-108464800	Active TSS	Brain Anterior Caudate	brain
2	chr11:108462600-108465000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr11:108462800-108464800	Active TSS	Fetal Kidney	kidney
4	chr11:108462800-108465000	Active TSS	Rectal Smooth Muscle	rectum
5	chr11:108463200-108464800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:108463200-108465000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:108463200-108465200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:108463400-108464800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:108463400-108464800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:108463400-108464800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:108463400-108464800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:108463400-108464800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:108463400-108464800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:108463400-108464800	Active TSS	Aorta	Aorta
15	chr11:108463400-108464800	Active TSS	Brain Angular Gyrus	brain
16	chr11:108463400-108464800	Active TSS	Colon Smooth Muscle	Colon
17	chr11:108463400-108464800	Active TSS	Right Ventricle	heart
18	chr11:108463400-108464800	Active TSS	NHEK	skin
19	chr11:108463400-108464800	Bivalent/Poised TSS	Osteobl	bone
20	chr11:108463400-108465000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:108463400-108465000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:108463400-108465000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr11:108463400-108465000	Active TSS	Right Atrium	heart
24	chr11:108463400-108465000	Flanking Bivalent TSS/Enh	Dnd41	blood
25	chr11:108463600-108464800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:108463600-108464800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:108463600-108464800	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr11:108463600-108464800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:108463600-108464800	Active TSS	Fetal Intestine Small	intestine
30	chr11:108463600-108464800	Active TSS	GM12878-XiMat	blood
31	chr11:108463600-108464800	Active TSS	HMEC	breast
32	chr11:108463600-108464800	Active TSS	K562	blood
33	chr11:108463600-108465000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr11:108463600-108465000	Active TSS	Brain Substantia Nigra	brain
35	chr11:108463800-108464800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr11:108463800-108464800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:108463800-108464800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr11:108463800-108464800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:108463800-108464800	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr11:108463800-108464800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:108463800-108464800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr11:108463800-108464800	Active TSS	Liver	Liver
43	chr11:108463800-108464800	Active TSS	Colonic Mucosa	Colon
44	chr11:108463800-108464800	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr11:108463800-108464800	Active TSS	Fetal Intestine Large	intestine
46	chr11:108463800-108464800	Bivalent/Poised TSS	Fetal Thymus	thymus
47	chr11:108463800-108464800	Active TSS	Ovary	ovary
48	chr11:108463800-108464800	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr11:108463800-108464800	Active TSS	Thymus	Thymus
50	chr11:108463800-108464800	Active TSS	A549	lung

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