Variant report

Variant	rs366711
Chromosome Location	chr11:72295502-72295503
allele	A/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	MAX	chr11:72295308-72295984	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr11:72295403-72295811	K562	blood:	n/a	n/a
3	MAX	chr11:72295332-72295919	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr11:72295425-72295858	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:72295311-72295780	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr11:72295224-72295993	ECC-1	luminal epithelium:	n/a	n/a
7	SIN3A	chr11:72295321-72296031	H1-hESC	embryonic stem cell:	n/a	chr11:72295839-72295852
8	E2F6	chr11:72295220-72296087	H1-hESC	embryonic stem cell:	n/a	n/a
9	EGR1	chr11:72295246-72295782	ECC-1	luminal epithelium:	n/a	chr11:72295524-72295533 chr11:72295523-72295536
10	USF2	chr11:72295355-72295745	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr11:72295115-72295996	H1-hESC	embryonic stem cell:	n/a	n/a
12	EGR1	chr11:72295343-72295658	K562	blood:	n/a	chr11:72295524-72295533 chr11:72295523-72295536
13	EGR1	chr11:72295299-72295757	ECC-1	luminal epithelium:	n/a	chr11:72295524-72295533 chr11:72295523-72295536
14	E2F6	chr11:72295202-72296160	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr11:72295159-72296147	H1-hESC	embryonic stem cell:	n/a	n/a
16	EGR1	chr11:72295371-72295662	K562	blood:	n/a	chr11:72295524-72295533 chr11:72295523-72295536

No.	Distal block	Cell Line	Cell type
1	chr11:72288586..72291436-chr11:72293581..72295884,2	K562	blood:
2	chr11:72294789..72296496-chr11:72299692..72301673,2	MCF-7	breast:
3	chr11:72293642..72296987-chr11:72305169..72308806,3	K562	blood:

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000256633	TF binding region
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AMR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs371903	1.00[AMR][1000 genomes]
rs379276	1.00[AMR][1000 genomes]
rs379638	1.00[AMR][1000 genomes]
rs390130	1.00[AMR][1000 genomes]
rs392818	1.00[AMR][1000 genomes]
rs408269	1.00[AMR][1000 genomes]
rs414178	1.00[AMR][1000 genomes]
rs424234	1.00[AMR][1000 genomes]
rs452228	1.00[AMR][1000 genomes]
rs55816648	1.00[AMR][1000 genomes]
rs56251316	1.00[AMR][1000 genomes]
rs57512065	1.00[AMR][1000 genomes]
rs577536	1.00[AMR][1000 genomes]
rs58744558	1.00[AMR][1000 genomes]
rs59222962	1.00[AMR][1000 genomes]
rs59414438	1.00[AMR][1000 genomes]
rs61417743	1.00[AMR][1000 genomes]
rs633405	1.00[AMR][1000 genomes]
rs644698	1.00[AMR][1000 genomes]
rs7108477	1.00[AMR][1000 genomes]
rs7110834	1.00[AMR][1000 genomes]
rs73529620	1.00[AMR][1000 genomes]
rs73529662	1.00[AMR][1000 genomes]
rs73529668	1.00[AMR][1000 genomes]
rs73529672	1.00[AMR][1000 genomes]
rs73541179	1.00[AMR][1000 genomes]
rs73541198	1.00[AMR][1000 genomes]
rs73542594	1.00[AMR][1000 genomes]
rs73543236	1.00[AMR][1000 genomes]
rs73543237	1.00[AMR][1000 genomes]
rs73543245	1.00[AMR][1000 genomes]
rs73543251	1.00[AMR][1000 genomes]
rs73544388	1.00[AMR][1000 genomes]
rs73544400	1.00[AMR][1000 genomes]
rs73546206	1.00[AMR][1000 genomes]
rs73546230	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72285000-72296200	Weak transcription	Liver	Liver
2	chr11:72287400-72296600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:72287800-72296400	Strong transcription	Stomach Smooth Muscle	stomach
4	chr11:72289400-72299800	Weak transcription	Lung	lung
5	chr11:72289800-72295600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:72291600-72295600	Strong transcription	Spleen	Spleen
7	chr11:72292000-72295800	Weak transcription	Primary B cells from cord blood	blood
8	chr11:72292000-72296000	Weak transcription	Hela-S3	cervix
9	chr11:72293000-72295800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:72293600-72295800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:72293600-72298200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:72293600-72300800	Weak transcription	Left Ventricle	heart
13	chr11:72293800-72296200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:72294000-72295800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:72294400-72297200	Enhancers	Pancreas	Pancrea
16	chr11:72294600-72300000	Weak transcription	Brain Anterior Caudate	brain
17	chr11:72294800-72296000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:72294800-72296000	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:72295000-72295800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr11:72295000-72295800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:72295000-72295800	Weak transcription	Adipose Nuclei	Adipose
22	chr11:72295000-72296000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:72295000-72296200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:72295000-72296200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr11:72295000-72296200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:72295000-72297400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr11:72295000-72300800	Weak transcription	Right Ventricle	heart
28	chr11:72295200-72295600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:72295200-72295600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:72295200-72295600	Enhancers	Primary B cells from peripheral blood	blood
31	chr11:72295200-72295600	Active TSS	Primary T cells from cord blood	blood
32	chr11:72295200-72295600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr11:72295200-72295600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr11:72295200-72295600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:72295200-72295600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:72295200-72295600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:72295200-72295600	Bivalent Enhancer	Brain Germinal Matrix	brain
38	chr11:72295200-72295600	Enhancers	HMEC	breast
39	chr11:72295200-72295800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:72295200-72295800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:72295200-72295800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:72295200-72295800	Enhancers	Gastric	stomach
43	chr11:72295200-72296000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:72295200-72296000	Bivalent/Poised TSS	HSMM	muscle
45	chr11:72295200-72296200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:72295200-72296200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr11:72295200-72296200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:72295200-72296200	Bivalent Enhancer	Fetal Stomach	stomach
49	chr11:72295200-72296800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr11:72295200-72296800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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