Variant report

Variant	rs9576863
Chromosome Location	chr13:40138554-40138555
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10459367	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12585456	0.85[EUR][1000 genomes]
rs17060245	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58418761	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58662524	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58918104	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59531868	0.87[EUR][1000 genomes]
rs72621301	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72621302	0.87[EUR][1000 genomes]
rs72623303	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72623305	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7337970	0.81[EUR][1000 genomes]
rs9315708	0.95[EUR][1000 genomes]
rs9566452	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9566455	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9566456	0.89[EUR][1000 genomes]
rs9576839	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9576844	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9576845	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9576846	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9576847	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9576849	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9576853	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9576855	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9576856	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9576857	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9576858	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9576860	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9576864	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576866	0.82[EUR][1000 genomes]
rs9576867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576868	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:40129000-40145600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:40129000-40152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:40130000-40139600	Weak transcription	Fetal Stomach	stomach
5	chr13:40131000-40138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:40131000-40138600	Weak transcription	Adipose Nuclei	Adipose
7	chr13:40132200-40145600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr13:40134000-40139400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:40134200-40139800	Weak transcription	Fetal Muscle Leg	muscle
10	chr13:40135400-40139600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:40135400-40139800	Weak transcription	Right Atrium	heart
12	chr13:40135800-40139200	Enhancers	NHEK	skin
13	chr13:40135800-40139400	Enhancers	HMEC	breast
14	chr13:40135800-40142000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:40135800-40145600	Weak transcription	Lung	lung
16	chr13:40136000-40138600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:40136200-40138600	Enhancers	HSMMtube	muscle
18	chr13:40136200-40138800	Enhancers	NHDF-Ad	bronchial
19	chr13:40136200-40139000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:40136200-40139600	Enhancers	HSMM	muscle
21	chr13:40136400-40145600	Weak transcription	Right Ventricle	heart
22	chr13:40136800-40138800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:40136800-40138800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr13:40136800-40139000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:40136800-40139000	Enhancers	Osteobl	bone
26	chr13:40136800-40140800	Enhancers	Ovary	ovary
27	chr13:40136800-40141200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:40137000-40138800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:40137000-40139200	Enhancers	NH-A	brain
30	chr13:40137000-40139400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:40137000-40139600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:40137000-40139600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:40137000-40139600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:40137000-40140600	Enhancers	Fetal Heart	heart
35	chr13:40137200-40138600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:40137200-40139400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:40137400-40138800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:40137400-40139200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr13:40137400-40139200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr13:40137600-40139200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr13:40137600-40139600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr13:40137600-40139600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr13:40137600-40139600	Enhancers	Brain Hippocampus Middle	brain
44	chr13:40137600-40140200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr13:40137600-40140200	Enhancers	Colon Smooth Muscle	Colon
46	chr13:40137800-40138800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr13:40137800-40139000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr13:40138000-40138800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr13:40138000-40138800	Enhancers	Aorta	Aorta
50	chr13:40138200-40138800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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