Variant report

Variant	rs9559791
Chromosome Location	chr13:111057215-111057216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1536622	0.84[ASN][1000 genomes]
rs4132949	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4555010	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773180	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61963204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9555696	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559785	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9559786	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9559789	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559790	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9559793	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9559794	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111041400-111058000	Weak transcription	Fetal Intestine Large	intestine
3	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:111043000-111060000	Weak transcription	A549	lung
5	chr13:111045600-111058200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:111045600-111059400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:111049000-111059600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
10	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:111050400-111060400	Enhancers	HSMMtube	muscle
12	chr13:111050800-111059600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:111051400-111059400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:111051600-111060000	Weak transcription	Gastric	stomach
15	chr13:111051800-111059600	Weak transcription	Aorta	Aorta
16	chr13:111052000-111059600	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:111052200-111057800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:111052200-111058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr13:111052200-111059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
21	chr13:111053000-111063600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:111053600-111058000	Weak transcription	Fetal Kidney	kidney
23	chr13:111053600-111058200	Weak transcription	Fetal Lung	lung
24	chr13:111054600-111058600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:111054600-111061200	Enhancers	NH-A	brain
26	chr13:111054800-111057800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:111054800-111060200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:111054800-111060400	Enhancers	NHLF	lung
29	chr13:111055000-111057400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:111055000-111058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:111055200-111059600	Weak transcription	Ovary	ovary
32	chr13:111055400-111057400	Enhancers	HMEC	breast
33	chr13:111055400-111057800	Weak transcription	Right Ventricle	heart
34	chr13:111055400-111059400	Weak transcription	Spleen	Spleen
35	chr13:111055400-111059600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:111055400-111059800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:111055600-111058000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:111055600-111058200	Weak transcription	Fetal Intestine Small	intestine
39	chr13:111056000-111057800	Weak transcription	Right Atrium	heart
40	chr13:111056000-111059600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr13:111056200-111057400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:111056200-111059200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:111056200-111060800	Enhancers	Left Ventricle	heart
44	chr13:111056200-111066000	Enhancers	Lung	lung
45	chr13:111056400-111058000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:111056400-111058000	Genic enhancers	Fetal Muscle Leg	muscle
47	chr13:111056400-111058000	Weak transcription	HUVEC	blood vessel
48	chr13:111056400-111058400	Enhancers	Stomach Smooth Muscle	stomach
49	chr13:111056400-111060400	Enhancers	Colon Smooth Muscle	Colon
50	chr13:111056600-111059600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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