Variant report

Variant	rs2391828
Chromosome Location	chr13:111101162-111101163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111099808..111102511-chr13:111103410..111106369,2	K562	blood:
2	chr13:111100223..111102719-chr13:111364020..111365835,2	MCF-7	breast:
3	chr13:111100852..111102646-chr13:111187472..111189317,2	MCF-7	breast:
4	chr13:111099271..111103584-chr13:111104898..111108256,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2296845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2391830	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34734302	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4573799	0.85[EUR][1000 genomes]
rs4641601	0.85[EUR][1000 genomes]
rs4641602	0.85[EUR][1000 genomes]
rs56676181	0.81[ASN][1000 genomes]
rs7996798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9555699	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9559800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9559801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	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
6	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 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	chr13:111086000-111105800	Strong transcription	Adipose Nuclei	Adipose
7	chr13:111088000-111107800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:111091000-111108400	Weak transcription	Brain Angular Gyrus	brain
9	chr13:111093800-111101400	Genic enhancers	NH-A	brain
10	chr13:111093800-111108200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr13:111094000-111102000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr13:111094000-111102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:111094800-111108200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr13:111095000-111101600	Genic enhancers	HSMM	muscle
15	chr13:111095000-111108400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:111095800-111104600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:111095800-111108200	Strong transcription	Fetal Intestine Small	intestine
18	chr13:111095800-111108400	Weak transcription	Brain Substantia Nigra	brain
19	chr13:111096200-111101400	Weak transcription	Fetal Brain Male	brain
20	chr13:111096400-111104400	Strong transcription	HUVEC	blood vessel
21	chr13:111096600-111101200	Genic enhancers	Muscle Satellite Cultured Cells	--
22	chr13:111096600-111105400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:111096800-111107200	Weak transcription	Fetal Heart	heart
24	chr13:111096800-111108400	Weak transcription	Brain Germinal Matrix	brain
25	chr13:111097000-111109000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:111097400-111101400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:111097400-111103800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:111097400-111107000	Strong transcription	Left Ventricle	heart
29	chr13:111097600-111101200	Genic enhancers	NHLF	lung
30	chr13:111097600-111103600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:111097600-111103600	Strong transcription	Aorta	Aorta
32	chr13:111097600-111103600	Strong transcription	Lung	lung
33	chr13:111097600-111104200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:111097600-111104600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:111097600-111107800	Strong transcription	Fetal Intestine Large	intestine
36	chr13:111097800-111104200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:111097800-111105400	Strong transcription	Right Ventricle	heart
38	chr13:111098200-111101400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:111098200-111102400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:111098200-111103200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:111098200-111104600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:111098200-111108200	Weak transcription	Brain Anterior Caudate	brain
43	chr13:111098400-111101800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr13:111098400-111103600	Strong transcription	Spleen	Spleen
45	chr13:111099000-111101600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:111099000-111123400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr13:111099400-111101200	Enhancers	NHDF-Ad	bronchial
48	chr13:111099400-111101400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr13:111099400-111102000	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr13:111099600-111101400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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