Variant report

Variant	rs9301453
Chromosome Location	chr13:111059850-111059851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7982289	1.00[AMR][1000 genomes]
rs7983604	1.00[AMR][1000 genomes]
rs9583491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3354806	chr13:111059151-111063549	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111043000-111060000	Weak transcription	A549	lung
2	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
4	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:111050400-111060400	Enhancers	HSMMtube	muscle
6	chr13:111051600-111060000	Weak transcription	Gastric	stomach
7	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
8	chr13:111053000-111063600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:111054600-111061200	Enhancers	NH-A	brain
10	chr13:111054800-111060200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:111054800-111060400	Enhancers	NHLF	lung
12	chr13:111056200-111060800	Enhancers	Left Ventricle	heart
13	chr13:111056200-111066000	Enhancers	Lung	lung
14	chr13:111056400-111060400	Enhancers	Colon Smooth Muscle	Colon
15	chr13:111056800-111060200	Enhancers	Rectal Smooth Muscle	rectum
16	chr13:111057000-111061200	Enhancers	Fetal Heart	heart
17	chr13:111057400-111061600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:111057600-111060000	Enhancers	Adipose Nuclei	Adipose
19	chr13:111057600-111060400	Weak transcription	NHEK	skin
20	chr13:111057800-111064800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr13:111057800-111070400	Enhancers	Right Atrium	heart
22	chr13:111058000-111060200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr13:111058000-111060200	Weak transcription	HMEC	breast
24	chr13:111058000-111060400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:111058000-111061200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr13:111058000-111066000	Enhancers	HUVEC	blood vessel
27	chr13:111058200-111060200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:111058200-111060600	Enhancers	Fetal Lung	lung
29	chr13:111058200-111062200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:111058400-111060400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:111058400-111062400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr13:111058400-111062800	Strong transcription	Fetal Intestine Small	intestine
33	chr13:111058600-111060000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:111058600-111060400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr13:111058600-111061000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:111058600-111061000	Weak transcription	Fetal Kidney	kidney
37	chr13:111058600-111061600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr13:111058600-111062000	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr13:111058800-111060000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr13:111058800-111060400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:111058800-111063600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:111058800-111063800	Weak transcription	Small Intestine	intestine
43	chr13:111058800-111064200	Weak transcription	Fetal Intestine Large	intestine
44	chr13:111059000-111060200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr13:111059000-111063200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:111059200-111060200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr13:111059200-111060200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:111059200-111060200	Genic enhancers	Right Ventricle	heart
49	chr13:111059200-111060400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
50	chr13:111059200-111063600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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