Variant report

Variant	rs45612833
Chromosome Location	chr13:111099057-111099058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7326449	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9521767	0.84[EUR][1000 genomes]
rs9555701	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv901008	chr13:111089573-111126501	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr13:111068000-111107000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:111070200-111108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
4	chr13:111083600-111110000	Weak transcription	Esophagus	oesophagus
5	chr13:111084200-111106400	Weak transcription	Liver	Liver
6	chr13:111084400-111100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:111086000-111105800	Strong transcription	Adipose Nuclei	Adipose
8	chr13:111087400-111099400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:111087400-111099600	Weak transcription	Pancreas	Pancrea
10	chr13:111088000-111107800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr13:111089400-111100000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:111091000-111108400	Weak transcription	Brain Angular Gyrus	brain
13	chr13:111092600-111099400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:111092600-111099400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr13:111093800-111099400	Weak transcription	Fetal Lung	lung
16	chr13:111093800-111099600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr13:111093800-111101400	Genic enhancers	NH-A	brain
18	chr13:111093800-111108200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr13:111094000-111102000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr13:111094000-111102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:111094600-111099600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:111094800-111099400	Enhancers	HMEC	breast
23	chr13:111094800-111099600	Strong transcription	Placenta	Placenta
24	chr13:111094800-111108200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr13:111095000-111101600	Genic enhancers	HSMM	muscle
26	chr13:111095000-111108400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr13:111095200-111099400	Weak transcription	Fetal Kidney	kidney
28	chr13:111095800-111104600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr13:111095800-111108200	Strong transcription	Fetal Intestine Small	intestine
30	chr13:111095800-111108400	Weak transcription	Brain Substantia Nigra	brain
31	chr13:111096200-111101400	Weak transcription	Fetal Brain Male	brain
32	chr13:111096400-111100000	Weak transcription	A549	lung
33	chr13:111096400-111104400	Strong transcription	HUVEC	blood vessel
34	chr13:111096600-111099400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:111096600-111099400	Weak transcription	NHDF-Ad	bronchial
36	chr13:111096600-111101200	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr13:111096600-111105400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:111096800-111099400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr13:111096800-111100000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:111096800-111100000	Weak transcription	Hela-S3	cervix
41	chr13:111096800-111107200	Weak transcription	Fetal Heart	heart
42	chr13:111096800-111108400	Weak transcription	Brain Germinal Matrix	brain
43	chr13:111097000-111099400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:111097000-111100000	Strong transcription	Osteobl	bone
45	chr13:111097000-111100200	Enhancers	GM12878-XiMat	blood
46	chr13:111097000-111109000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:111097400-111099600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr13:111097400-111101400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:111097400-111103800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:111097400-111107000	Strong transcription	Left Ventricle	heart

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