Variant report

Variant	rs7981547
Chromosome Location	chr13:40136247-40136248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1885759	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2324337	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35396912	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7322336	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7333056	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7982917	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315701	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9315702	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9315703	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9315706	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9315707	0.85[EUR][1000 genomes]
rs9532396	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9532399	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9548804	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9548805	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9548809	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9548817	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9548819	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548820	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548821	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548822	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9548824	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9548825	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9548826	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9548827	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9548829	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9603564	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:40126400-40137200	Weak transcription	NHLF	lung
3	chr13:40128800-40137600	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:40129000-40145600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:40129000-40152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:40129400-40136800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:40130000-40139600	Weak transcription	Fetal Stomach	stomach
8	chr13:40131000-40138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:40131000-40138600	Weak transcription	Adipose Nuclei	Adipose
10	chr13:40131200-40137600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:40131600-40137400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:40132200-40145600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr13:40132400-40137600	Weak transcription	Fetal Lung	lung
14	chr13:40133400-40136800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:40133600-40137400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:40133600-40137600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr13:40133800-40137000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:40133800-40137400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:40133800-40137600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:40133800-40138000	Weak transcription	Aorta	Aorta
21	chr13:40133800-40138200	Weak transcription	Brain Substantia Nigra	brain
22	chr13:40134000-40139400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:40134200-40137000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:40134200-40137200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:40134200-40139800	Weak transcription	Fetal Muscle Leg	muscle
26	chr13:40134400-40137000	Weak transcription	Fetal Heart	heart
27	chr13:40134400-40137400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr13:40134400-40137600	Weak transcription	Brain Hippocampus Middle	brain
29	chr13:40134600-40136800	Weak transcription	Osteobl	bone
30	chr13:40135200-40136400	Enhancers	Right Ventricle	heart
31	chr13:40135200-40137400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr13:40135400-40138000	Weak transcription	Left Ventricle	heart
33	chr13:40135400-40139600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:40135400-40139800	Weak transcription	Right Atrium	heart
35	chr13:40135600-40136400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:40135600-40137000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:40135800-40137800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:40135800-40139200	Enhancers	NHEK	skin
39	chr13:40135800-40139400	Enhancers	HMEC	breast
40	chr13:40135800-40142000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:40135800-40145600	Weak transcription	Lung	lung
42	chr13:40136000-40136800	Weak transcription	Ovary	ovary
43	chr13:40136000-40137000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:40136000-40138600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:40136200-40136400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr13:40136200-40138600	Enhancers	HSMMtube	muscle
47	chr13:40136200-40138800	Enhancers	NHDF-Ad	bronchial
48	chr13:40136200-40139000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:40136200-40139600	Enhancers	HSMM	muscle

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