Variant report

Variant	rs73546206
Chromosome Location	chr11:72353044-72353045
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	SIN3A	chr11:72352918-72353118	H1-hESC	embryonic stem cell:	n/a	n/a
2	SMARCB1	chr11:72352741-72355028	Hela-S3	cervix:	n/a	chr11:72354667-72354676

No.	Distal block	Cell Line	Cell type
1	chr11:72352692..72354361-chr11:72368071..72370416,2	K562	blood:
2	chr11:72352379..72355272-chr11:72384070..72386668,2	K562	blood:
3	chr11:72300263..72302231-chr11:72352736..72355134,2	K562	blood:

Variant related genes	Relation type
ENSG00000255808	TF binding region
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AMR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs366711	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]
rs61580813	0.83[AFR][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]
rs73546230	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh 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
6	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3413076	chr11:72349804-72353302	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72351000-72354200	Active TSS	Left Ventricle	heart
2	chr11:72351000-72354400	Active TSS	Right Atrium	heart
3	chr11:72351400-72354400	Active TSS	Brain Angular Gyrus	brain
4	chr11:72351800-72354200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:72351800-72354400	Active TSS	Ovary	ovary
6	chr11:72352200-72353400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr11:72352200-72353600	Bivalent Enhancer	Placenta	Placenta
8	chr11:72352400-72353200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:72352400-72353200	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr11:72352600-72353200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
11	chr11:72352600-72353400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr11:72352600-72353400	Flanking Active TSS	Lung	lung
13	chr11:72352600-72354800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
15	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
16	chr11:72352800-72353200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr11:72352800-72353200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
18	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr11:72352800-72353200	Flanking Active TSS	Liver	Liver
20	chr11:72352800-72353200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
22	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
23	chr11:72352800-72353200	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
25	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
26	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
27	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
28	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
29	chr11:72352800-72353200	Flanking Active TSS	Right Ventricle	heart
30	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	Hela-S3	cervix
31	chr11:72352800-72353200	Flanking Bivalent TSS/Enh	HSMMtube	muscle
32	chr11:72352800-72353200	Bivalent Enhancer	NHDF-Ad	bronchial
33	chr11:72352800-72353400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:72352800-72353400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
35	chr11:72352800-72353400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr11:72352800-72353400	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr11:72352800-72353400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr11:72352800-72353600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr11:72352800-72353600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr11:72352800-72354000	Active TSS	Rectal Smooth Muscle	rectum
41	chr11:72352800-72354200	Active TSS	Brain Cingulate Gyrus	brain
42	chr11:72352800-72354400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:72352800-72354600	Bivalent/Poised TSS	HepG2	liver
44	chr11:72353000-72353200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr11:72353000-72353200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:72353000-72353200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:72353000-72353200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr11:72353000-72353200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:72353000-72353200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:72353000-72353200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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