Variant report

Variant	rs9568188
Chromosome Location	chr13:49927732-49927733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4942818	0.91[ASN][1000 genomes]
rs6561520	0.84[EUR][1000 genomes]
rs7325632	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs7326978	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7981156	0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs7984177	0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7990940	0.90[ASN][1000 genomes]
rs7991335	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535203	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs9535211	0.90[EUR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
4	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
5	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:49889200-49933400	Weak transcription	Brain Anterior Caudate	brain
7	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr13:49895600-49933200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:49895800-49935600	Weak transcription	Esophagus	oesophagus
10	chr13:49904400-49929200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:49904400-49929400	Weak transcription	Fetal Brain Female	brain
12	chr13:49904600-49930800	Weak transcription	Aorta	Aorta
13	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:49913200-49932600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr13:49915000-49929000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:49915000-49941400	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:49918000-49930000	Weak transcription	Osteobl	bone
18	chr13:49918200-49928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:49918200-49928800	Weak transcription	Adipose Nuclei	Adipose
20	chr13:49922200-49937600	Weak transcription	Fetal Brain Male	brain
21	chr13:49922200-49937600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr13:49922400-49931800	Weak transcription	Left Ventricle	heart
23	chr13:49922400-49940800	Weak transcription	Lung	lung
24	chr13:49922400-49946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:49922400-49947800	Weak transcription	Right Ventricle	heart
26	chr13:49922800-49951400	Weak transcription	Gastric	stomach
27	chr13:49923000-49935000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr13:49923200-49928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:49923200-49929200	Weak transcription	Ovary	ovary
30	chr13:49923200-49930400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:49923200-49934800	Weak transcription	Fetal Stomach	stomach
32	chr13:49923200-49935000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:49923200-49937800	Weak transcription	Primary B cells from cord blood	blood
34	chr13:49923200-49951200	Weak transcription	Pancreas	Pancrea
35	chr13:49923400-49929000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:49925000-49930800	Weak transcription	Colon Smooth Muscle	Colon
37	chr13:49925000-49930800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr13:49925600-49927800	Enhancers	NHDF-Ad	bronchial
39	chr13:49925600-49929000	Weak transcription	Fetal Heart	heart
40	chr13:49925800-49928600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr13:49926000-49928800	Weak transcription	HSMM	muscle
42	chr13:49926000-49929200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:49926000-49933200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr13:49926400-49934400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:49926400-49937600	Weak transcription	Brain Substantia Nigra	brain
46	chr13:49926600-49930000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr13:49926800-49930200	Weak transcription	NHEK	skin
48	chr13:49926800-49937800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:49927400-49928000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:49927400-49928200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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