Variant report

Variant	rs7983392
Chromosome Location	chr13:40137419-40137420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12853787	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1548273	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17060288	0.84[ASN][1000 genomes]
rs2324348	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34490304	1.00[EUR][1000 genomes]
rs4551908	0.80[ASN][1000 genomes]
rs56103901	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56213801	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs57628663	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61432896	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61954148	0.96[ASN][1000 genomes]
rs61956463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956467	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423201	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7317222	0.94[ASN][1000 genomes]
rs7333551	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7334762	0.96[ASN][1000 genomes]
rs74044105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74046534	0.96[ASN][1000 genomes]
rs74046537	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs74046538	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs74046541	0.96[ASN][1000 genomes]
rs74046546	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs74046552	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs74046553	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74046554	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs74046555	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs74046556	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7985820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7987557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532392	0.94[ASN][1000 genomes]
rs978136	0.96[EUR][1000 genomes];0.96[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	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
3	esv3324454	chr13:40135777-40137800	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 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	chr13:40128800-40137600	Weak transcription	Colon Smooth Muscle	Colon
3	chr13:40129000-40145600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:40129000-40152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:40130000-40139600	Weak transcription	Fetal Stomach	stomach
6	chr13:40131000-40138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:40131000-40138600	Weak transcription	Adipose Nuclei	Adipose
8	chr13:40131200-40137600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:40132200-40145600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:40132400-40137600	Weak transcription	Fetal Lung	lung
11	chr13:40133600-40137600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:40133800-40137600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:40133800-40138000	Weak transcription	Aorta	Aorta
14	chr13:40133800-40138200	Weak transcription	Brain Substantia Nigra	brain
15	chr13:40134000-40139400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:40134200-40139800	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:40134400-40137600	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:40135400-40138000	Weak transcription	Left Ventricle	heart
19	chr13:40135400-40139600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:40135400-40139800	Weak transcription	Right Atrium	heart
21	chr13:40135800-40137800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:40135800-40139200	Enhancers	NHEK	skin
23	chr13:40135800-40139400	Enhancers	HMEC	breast
24	chr13:40135800-40142000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:40135800-40145600	Weak transcription	Lung	lung
26	chr13:40136000-40138600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:40136200-40138600	Enhancers	HSMMtube	muscle
28	chr13:40136200-40138800	Enhancers	NHDF-Ad	bronchial
29	chr13:40136200-40139000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:40136200-40139600	Enhancers	HSMM	muscle
31	chr13:40136400-40145600	Weak transcription	Right Ventricle	heart
32	chr13:40136800-40138800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:40136800-40138800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr13:40136800-40139000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:40136800-40139000	Enhancers	Osteobl	bone
36	chr13:40136800-40140800	Enhancers	Ovary	ovary
37	chr13:40136800-40141200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr13:40137000-40138800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:40137000-40139200	Enhancers	NH-A	brain
40	chr13:40137000-40139400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:40137000-40139600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:40137000-40139600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:40137000-40139600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:40137000-40140600	Enhancers	Fetal Heart	heart
45	chr13:40137200-40138000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:40137200-40138400	Enhancers	NHLF	lung
47	chr13:40137200-40138600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:40137200-40139400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:40137400-40137800	Enhancers	Brain Cingulate Gyrus	brain
50	chr13:40137400-40138000	Enhancers	HUES6 Cell Line	embryonic stem cell

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