Variant report

Variant	rs623566
Chromosome Location	chr11:73359039-73359040
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	CHD2	chr11:73358525-73359042	HepG2	liver:	n/a	n/a
4	RCOR1	chr11:73359029-73359171	K562	blood:	n/a	n/a
5	FOS	chr11:73358994-73359092	MCF10A-Er-Src	breast:	n/a	n/a
6	RCOR1	chr11:73358518-73359247	HepG2	liver:	n/a	n/a
7	CHD2	chr11:73358600-73359071	GM12878	blood:	n/a	n/a
8	JUND	chr11:73358862-73359243	HepG2	liver:	n/a	chr11:73359046-73359057
9	CREB1	chr11:73358341-73359151	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3AK20	chr11:73358502-73359131	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:73358375-73359208	K562	blood:	n/a	n/a
12	JUND	chr11:73358909-73359109	K562	blood:	n/a	chr11:73359046-73359057
13	POLR2A	chr11:73358642-73359066	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF3	chr11:73358732-73359131	GM12878	blood:	n/a	chr11:73358931-73358944 chr11:73358933-73358949
15	CHD2	chr11:73358827-73359081	K562	blood:	n/a	n/a
16	ELF1	chr11:73358433-73359185	MCF-7	breast:	n/a	chr11:73358627-73358639 chr11:73358620-73358632
17	POLR2A	chr11:73358625-73359053	H1-hESC	embryonic stem cell:	n/a	n/a
18	KAP1	chr11:73358737-73359301	HEK293	kidney:	n/a	n/a
19	CREB1	chr11:73358271-73359199	HepG2	liver:	n/a	n/a
20	JUND	chr11:73358908-73359127	H1-hESC	embryonic stem cell:	n/a	chr11:73359046-73359057
21	FOS	chr11:73358951-73359100	MCF10A-Er-Src	breast:	n/a	n/a
22	ATF2	chr11:73358400-73359214	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr11:73358554-73359135	H1-hESC	embryonic stem cell:	n/a	chr11:73358623-73358633 chr11:73358597-73358607
24	MAZ	chr11:73357984-73359368	IMR90	lung:	n/a	chr11:73358623-73358633 chr11:73358597-73358607
25	EP300	chr11:73358695-73359105	H1-hESC	embryonic stem cell:	n/a	chr11:73358876-73358890
26	CREB1	chr11:73358283-73359120	HepG2	liver:	n/a	n/a
27	CTBP2	chr11:73358519-73359061	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:73358630-73359185	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:73358555-73359356	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:73358500-73359143	H1-hESC	embryonic stem cell:	n/a	n/a
31	HDAC2	chr11:73358608-73359089	HepG2	liver:	n/a	n/a
32	CREB1	chr11:73358307-73359174	H1-hESC	embryonic stem cell:	n/a	n/a
33	FOS	chr11:73359033-73359207	MCF10A-Er-Src	breast:	n/a	n/a
34	JUND	chr11:73358561-73359219	H1-hESC	embryonic stem cell:	n/a	chr11:73359046-73359057
35	POLR2A	chr11:73357005-73359060	HepG2	liver:	n/a	n/a
36	ZNF143	chr11:73358368-73359172	H1-hESC	embryonic stem cell:	n/a	chr11:73358553-73358562 chr11:73358551-73358560 chr11:73358551-73358569
37	SP1	chr11:73358452-73359176	H1-hESC	embryonic stem cell:	n/a	chr11:73358957-73358969 chr11:73358622-73358634 chr11:73358623-73358633 chr11:73358598-73358611 chr11:73358619-73358633 chr11:73358795-73358807 chr11:73358953-73358963 chr11:73358858-73358872 chr11:73358954-73358968 chr11:73358957-73358969 chr11:73358797-73358806 chr11:73358952-73358964 chr11:73358953-73358962 chr11:73358795-73358806 chr11:73358622-73358634 chr11:73358952-73358964 chr11:73358954-73358963 chr11:73358623-73358632 chr11:73358795-73358807 chr11:73358796-73358805 chr11:73358949-73358963 chr11:73358624-73358633
38	BACH1	chr11:73358790-73359066	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr11:73358841-73359127	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYBL2	chr11:73358509-73359248	HepG2	liver:	n/a	n/a
41	BRCA1	chr11:73358775-73359183	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr11:73358783-73359058	H1-hESC	embryonic stem cell:	n/a	n/a
43	SP1	chr11:73358481-73359145	H1-hESC	embryonic stem cell:	n/a	chr11:73358957-73358969 chr11:73358622-73358634 chr11:73358623-73358633 chr11:73358598-73358611 chr11:73358619-73358633 chr11:73358795-73358807 chr11:73358953-73358963 chr11:73358858-73358872 chr11:73358954-73358968 chr11:73358957-73358969 chr11:73358797-73358806 chr11:73358952-73358964 chr11:73358953-73358962 chr11:73358795-73358806 chr11:73358622-73358634 chr11:73358952-73358964 chr11:73358954-73358963 chr11:73358623-73358632 chr11:73358795-73358807 chr11:73358796-73358805 chr11:73358949-73358963 chr11:73358624-73358633
44	JUND	chr11:73358810-73359161	H1-hESC	embryonic stem cell:	n/a	chr11:73359046-73359057
45	YY1	chr11:73358507-73359084	H1-hESC	embryonic stem cell:	n/a	chr11:73358620-73358634
46	TCF12	chr11:73358488-73359139	H1-hESC	embryonic stem cell:	n/a	chr11:73358637-73358647 chr11:73358908-73358915
47	FOS	chr11:73359033-73359069	MCF10A-Er-Src	breast:	n/a	n/a
48	ZEB1	chr11:73358703-73359069	GM12878	blood:	n/a	chr11:73358908-73358917 chr11:73358906-73358917
49	TCF12	chr11:73358484-73359144	H1-hESC	embryonic stem cell:	n/a	chr11:73358637-73358647 chr11:73358908-73358915

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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11235831	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235835	0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235836	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235837	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273310	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273355	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274744	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1278292	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784498	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784499	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509065	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2512634	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3016498	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55696411	1.00[EUR][1000 genomes]
rs581888	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593056	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593927	0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs597784	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598219	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs609218	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs623595	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs639139	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640153	0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642610	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643464	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs674995	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676375	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676390	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676402	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs683076	0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73356200-73360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:73356800-73360600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:73357000-73359200	Bivalent Enhancer	NHEK	skin
4	chr11:73357200-73359200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:73357200-73359200	Enhancers	Spleen	Spleen
6	chr11:73357200-73364000	Weak transcription	Liver	Liver
7	chr11:73357800-73359200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:73357800-73359200	Enhancers	Esophagus	oesophagus
9	chr11:73357800-73359600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:73357800-73364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:73358000-73359400	Enhancers	Fetal Thymus	thymus
12	chr11:73358000-73359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:73358200-73359200	Enhancers	Primary B cells from cord blood	blood
14	chr11:73358200-73359200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:73358200-73359200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr11:73358200-73359200	Enhancers	HMEC	breast
17	chr11:73358200-73359400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr11:73358200-73361000	Flanking Active TSS	HepG2	liver
19	chr11:73358400-73359200	Active TSS	Colon Smooth Muscle	Colon
20	chr11:73358400-73359200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr11:73358400-73359800	Active TSS	Brain Anterior Caudate	brain
22	chr11:73358400-73359800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr11:73358600-73359200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr11:73358600-73359200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:73358600-73359200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:73358600-73359200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr11:73358600-73359200	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr11:73358600-73359200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr11:73358600-73359200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:73358600-73359200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:73358600-73359200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr11:73358600-73359200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:73358600-73359200	Active TSS	Colonic Mucosa	Colon
34	chr11:73358600-73359200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr11:73358600-73359200	Active TSS	Rectal Smooth Muscle	rectum
36	chr11:73358600-73359200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:73358600-73359200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr11:73358600-73359200	Bivalent Enhancer	K562	blood
39	chr11:73358600-73359400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:73358600-73359400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:73358600-73359600	Active TSS	Brain Hippocampus Middle	brain
42	chr11:73358600-73360000	Active TSS	Brain Substantia Nigra	brain
43	chr11:73358600-73360200	Active TSS	Brain Cingulate Gyrus	brain
44	chr11:73358600-73360400	Active TSS	Brain Angular Gyrus	brain
45	chr11:73358600-73363200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:73358800-73359200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:73358800-73359200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr11:73358800-73359200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr11:73358800-73359200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:73358800-73359200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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