Variant report

Variant	rs11601905
Chromosome Location	chr11:73358923-73358924
allele	C/T
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	ZEB1	chr11:73358380-73360542	HepG2	liver:	n/a	chr11:73358908-73358917 chr11:73358906-73358917
2	SIN3A	chr11:73358484-73359072	H1-hESC	embryonic stem cell:	n/a	chr11:73358848-73358862
3	MYC	chr11:73358699-73359028	MCF-7	breast:	n/a	n/a
4	CHD2	chr11:73358525-73359042	HepG2	liver:	n/a	n/a
5	RFX5	chr11:73358915-73359034	H1-hESC	embryonic stem cell:	n/a	chr11:73358924-73358940 chr11:73358925-73358939
6	POLR2A	chr11:73358535-73358955	ECC-1	luminal epithelium:	n/a	n/a
7	RCOR1	chr11:73358518-73359247	HepG2	liver:	n/a	n/a
8	SP4	chr11:73358557-73358979	H1-hESC	embryonic stem cell:	n/a	chr11:73358795-73358806
9	CEBPD	chr11:73358430-73358993	HepG2	liver:	n/a	n/a
10	CHD2	chr11:73358600-73359071	GM12878	blood:	n/a	n/a
11	HEY1	chr11:73358485-73358963	HepG2	liver:	n/a	n/a
12	JUND	chr11:73358862-73359243	HepG2	liver:	n/a	chr11:73359046-73359057
13	CREB1	chr11:73358341-73359151	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr11:73358502-73359131	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:73358375-73359208	K562	blood:	n/a	n/a
16	POLR2A	chr11:73358480-73358944	HCT-116	colon:	n/a	n/a
17	JUND	chr11:73358909-73359109	K562	blood:	n/a	chr11:73359046-73359057
18	POLR2A	chr11:73358629-73358924	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:73358642-73359066	H1-hESC	embryonic stem cell:	n/a	n/a
20	RFX5	chr11:73358557-73358923	HepG2	liver:	n/a	n/a
21	GTF2F1	chr11:73358729-73358937	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF3	chr11:73358732-73359131	GM12878	blood:	n/a	chr11:73358931-73358944 chr11:73358933-73358949
23	CHD2	chr11:73358827-73359081	K562	blood:	n/a	n/a
24	ELF1	chr11:73358433-73359185	MCF-7	breast:	n/a	chr11:73358627-73358639 chr11:73358620-73358632
25	POLR2A	chr11:73358625-73359053	H1-hESC	embryonic stem cell:	n/a	n/a
26	KAP1	chr11:73358737-73359301	HEK293	kidney:	n/a	n/a
27	USF2	chr11:73358525-73358960	H1-hESC	embryonic stem cell:	n/a	chr11:73358630-73358646
28	CREB1	chr11:73358271-73359199	HepG2	liver:	n/a	n/a
29	NRF1	chr11:73358173-73358987	SK-N-SH	brain:	n/a	chr11:73358513-73358522 chr11:73358702-73358713 chr11:73358702-73358716
30	JUND	chr11:73358908-73359127	H1-hESC	embryonic stem cell:	n/a	chr11:73359046-73359057
31	POLR2A	chr11:73358588-73358928	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAZ	chr11:73358386-73358973	K562	blood:	n/a	chr11:73358623-73358633 chr11:73358597-73358607
33	POLR2A	chr11:73358534-73358957	ECC-1	luminal epithelium:	n/a	n/a
34	EP300	chr11:73358777-73359017	HepG2	liver:	n/a	chr11:73358876-73358890
35	YY1	chr11:73358456-73359004	H1-hESC	embryonic stem cell:	n/a	chr11:73358620-73358634
36	ATF2	chr11:73358400-73359214	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr11:73358640-73359005	GM12878	blood:	n/a	n/a
38	MAX	chr11:73358554-73359135	H1-hESC	embryonic stem cell:	n/a	chr11:73358623-73358633 chr11:73358597-73358607
39	POLR2A	chr11:73358640-73358999	MCF-7	breast:	n/a	n/a
40	MAZ	chr11:73357984-73359368	IMR90	lung:	n/a	chr11:73358623-73358633 chr11:73358597-73358607
41	EP300	chr11:73358695-73359105	H1-hESC	embryonic stem cell:	n/a	chr11:73358876-73358890
42	CREB1	chr11:73358283-73359120	HepG2	liver:	n/a	n/a
43	CTBP2	chr11:73358519-73359061	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:73358630-73359185	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:73358555-73359356	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:73358500-73359143	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:73358654-73358961	MCF-7	breast:	n/a	n/a
48	HDAC2	chr11:73358608-73359089	HepG2	liver:	n/a	n/a
49	CREB1	chr11:73358307-73359174	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr11:73358803-73359000	H1-hESC	embryonic stem cell:	n/a	chr11:73358828-73358837

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73350129..73352943-chr11:73358005..73360556,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHB1	TF binding region
ENSG00000270323	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10898926	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898927	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898928	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898929	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235827	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235834	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12361257	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12364069	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1568895	0.84[ASN][1000 genomes]
rs3741147	0.92[ASN][1000 genomes]
rs4944847	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944850	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666839	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7944279	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9666549	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv525173	chr11:73356872-73364673	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr11:73356200-73360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:73356600-73359000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:73356600-73359000	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr11:73356800-73360600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:73357000-73359200	Bivalent Enhancer	NHEK	skin
6	chr11:73357200-73359200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:73357200-73359200	Enhancers	Spleen	Spleen
8	chr11:73357200-73364000	Weak transcription	Liver	Liver
9	chr11:73357800-73359000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:73357800-73359200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:73357800-73359200	Enhancers	Esophagus	oesophagus
12	chr11:73357800-73359600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:73357800-73364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:73358000-73359000	Enhancers	Fetal Brain Male	brain
15	chr11:73358000-73359400	Enhancers	Fetal Thymus	thymus
16	chr11:73358000-73359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:73358200-73359000	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:73358200-73359000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:73358200-73359000	Enhancers	Fetal Kidney	kidney
20	chr11:73358200-73359200	Enhancers	Primary B cells from cord blood	blood
21	chr11:73358200-73359200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:73358200-73359200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr11:73358200-73359200	Enhancers	HMEC	breast
24	chr11:73358200-73359400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr11:73358200-73361000	Flanking Active TSS	HepG2	liver
26	chr11:73358400-73359000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr11:73358400-73359000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:73358400-73359000	Active TSS	Fetal Brain Female	brain
29	chr11:73358400-73359000	Flanking Active TSS	Thymus	Thymus
30	chr11:73358400-73359200	Active TSS	Colon Smooth Muscle	Colon
31	chr11:73358400-73359200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:73358400-73359800	Active TSS	Brain Anterior Caudate	brain
33	chr11:73358400-73359800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr11:73358600-73359000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:73358600-73359000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:73358600-73359000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:73358600-73359000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:73358600-73359000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:73358600-73359000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:73358600-73359000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:73358600-73359000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:73358600-73359000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr11:73358600-73359000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:73358600-73359000	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr11:73358600-73359000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:73358600-73359000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:73358600-73359000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:73358600-73359000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr11:73358600-73359000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr11:73358600-73359000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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