Variant report

Variant	rs4548728
Chromosome Location	chr13:111104164-111104165
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111099808..111102511-chr13:111103410..111106369,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2391827	0.82[EUR][1000 genomes]
rs7994073	0.93[ASN][1000 genomes]
rs7994089	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521767	0.91[ASN][1000 genomes]
rs9555701	0.91[ASN][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	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
7	nsv1039297	chr13:111101507-111138863	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv541923	chr13:111101507-111138863	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 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	chr13:111093800-111108200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:111094800-111108200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr13:111095000-111108400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:111095800-111104600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:111095800-111108200	Strong transcription	Fetal Intestine Small	intestine
14	chr13:111095800-111108400	Weak transcription	Brain Substantia Nigra	brain
15	chr13:111096400-111104400	Strong transcription	HUVEC	blood vessel
16	chr13:111096600-111105400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:111096800-111107200	Weak transcription	Fetal Heart	heart
18	chr13:111096800-111108400	Weak transcription	Brain Germinal Matrix	brain
19	chr13:111097000-111109000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:111097400-111107000	Strong transcription	Left Ventricle	heart
21	chr13:111097600-111104200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr13:111097600-111104600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:111097600-111107800	Strong transcription	Fetal Intestine Large	intestine
24	chr13:111097800-111104200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:111097800-111105400	Strong transcription	Right Ventricle	heart
26	chr13:111098200-111104600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:111098200-111108200	Weak transcription	Brain Anterior Caudate	brain
28	chr13:111099000-111123400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr13:111099600-111108400	Weak transcription	Fetal Brain Female	brain
30	chr13:111099800-111108400	Strong transcription	Fetal Stomach	stomach
31	chr13:111099800-111116400	Strong transcription	Fetal Muscle Leg	muscle
32	chr13:111100000-111106200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr13:111100000-111120000	Weak transcription	Pancreas	Pancrea
34	chr13:111100200-111105800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr13:111100200-111106200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:111100200-111107400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:111100400-111104600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:111100400-111108400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr13:111100400-111118200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:111101200-111106200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr13:111101200-111108400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:111101200-111108400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:111101200-111108400	Weak transcription	NHDF-Ad	bronchial
44	chr13:111101200-111108400	Strong transcription	Osteobl	bone
45	chr13:111101400-111104400	Strong transcription	NH-A	brain
46	chr13:111101400-111105200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:111101400-111105400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:111101400-111105800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr13:111101600-111104400	Strong transcription	Colon Smooth Muscle	Colon
50	chr13:111101600-111104400	Strong transcription	HSMM	muscle

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