Variant report

Variant	rs73585838
Chromosome Location	chr11:102105380-102105381
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	POLR2A	chr11:102105376-102106591	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:102105350-102107540	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102105024..102105732-chr3:111632640..111633407,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254422	TF binding region

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17097551	1.00[AMR][1000 genomes]
rs57630982	1.00[AMR][1000 genomes]
rs58397810	1.00[AMR][1000 genomes]
rs60269946	1.00[AMR][1000 genomes]
rs7131529	1.00[AMR][1000 genomes]
rs73582043	1.00[AMR][1000 genomes]
rs73582094	1.00[AMR][1000 genomes]
rs73582098	1.00[AMR][1000 genomes]
rs73583916	1.00[AMR][1000 genomes]
rs73585832	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585847	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1043388	chr11:102017719-102172857	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102064000-102105400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:102075400-102105600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:102078800-102105600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:102079000-102107200	Weak transcription	Fetal Brain Male	brain
5	chr11:102081200-102118600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:102086800-102111600	Weak transcription	Lung	lung
7	chr11:102093000-102113000	Weak transcription	Ovary	ovary
8	chr11:102095200-102105400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:102095200-102118600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:102096800-102114600	Weak transcription	Small Intestine	intestine
11	chr11:102097000-102105800	Weak transcription	Right Ventricle	heart
12	chr11:102097200-102105800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:102097400-102105400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:102097800-102119600	Weak transcription	Right Atrium	heart
15	chr11:102098000-102111600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:102098400-102105800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:102098400-102106600	Strong transcription	HSMM	muscle
18	chr11:102098400-102118600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:102098600-102105400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:102098600-102105800	Weak transcription	Psoas Muscle	Psoas
21	chr11:102099000-102112800	Weak transcription	Hela-S3	cervix
22	chr11:102100800-102105400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:102100800-102105600	Weak transcription	Aorta	Aorta
24	chr11:102100800-102105600	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:102100800-102109000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:102100800-102111400	Weak transcription	A549	lung
27	chr11:102100800-102112800	Weak transcription	Fetal Heart	heart
28	chr11:102100800-102113000	Weak transcription	Esophagus	oesophagus
29	chr11:102101000-102107800	Weak transcription	Fetal Kidney	kidney
30	chr11:102101000-102111200	Weak transcription	NHLF	lung
31	chr11:102101200-102105400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:102101200-102105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:102101200-102105800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:102101200-102107800	Weak transcription	HSMMtube	muscle
35	chr11:102101200-102108800	Weak transcription	Fetal Intestine Large	intestine
36	chr11:102101600-102107400	Weak transcription	Placenta	Placenta
37	chr11:102101600-102107600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:102101800-102106000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:102101800-102112800	Weak transcription	Liver	Liver
40	chr11:102102000-102105800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:102102000-102107400	Weak transcription	Adipose Nuclei	Adipose
42	chr11:102102000-102115400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:102102200-102107400	Weak transcription	HepG2	liver
44	chr11:102102200-102111600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:102102400-102105400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:102103000-102105400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:102103200-102105400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:102103200-102105600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:102103200-102105600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr11:102103600-102105400	Strong transcription	Fetal Lung	lung

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