Variant report

Variant	rs9601258
Chromosome Location	chr13:80232942-80232943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12430226	0.88[EUR][1000 genomes]
rs2181432	0.88[EUR][1000 genomes]
rs2208936	0.88[EUR][1000 genomes]
rs2208938	0.83[EUR][1000 genomes]
rs2208943	0.85[EUR][1000 genomes]
rs2329126	0.87[EUR][1000 genomes]
rs2876742	0.86[EUR][1000 genomes]
rs2876746	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2876747	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3920578	0.88[EUR][1000 genomes]
rs4141826	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4884135	0.83[AFR][1000 genomes]
rs4885647	0.87[EUR][1000 genomes]
rs4885649	0.87[EUR][1000 genomes]
rs4885652	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4885653	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4885655	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563129	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67012853	0.82[AMR][1000 genomes]
rs7319427	0.81[ASN][1000 genomes]
rs767778	0.87[EUR][1000 genomes]
rs7994255	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7994620	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318645	0.87[EUR][1000 genomes]
rs9318647	0.88[EUR][1000 genomes]
rs9318650	0.82[EUR][1000 genomes]
rs9318651	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9530940	0.88[EUR][1000 genomes]
rs9530941	0.88[EUR][1000 genomes]
rs9530942	0.88[EUR][1000 genomes]
rs9530943	0.88[EUR][1000 genomes]
rs9530944	0.88[EUR][1000 genomes]
rs9545146	0.80[ASN][1000 genomes]
rs9545159	0.87[EUR][1000 genomes]
rs9545160	0.87[EUR][1000 genomes]
rs9545166	0.88[EUR][1000 genomes]
rs9565514	0.89[AFR][1000 genomes]
rs9565515	0.93[AFR][1000 genomes]
rs9574448	0.92[AFR][1000 genomes]
rs9574450	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9574452	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574455	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9593407	0.92[AFR][1000 genomes]
rs9601248	0.80[ASN][1000 genomes]
rs9601256	0.87[EUR][1000 genomes]
rs9805769	0.88[EUR][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	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80231400-80234600	Enhancers	HSMMtube	muscle
2	chr13:80231800-80239200	Enhancers	Fetal Heart	heart
3	chr13:80232400-80233400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:80232400-80233400	Enhancers	NHEK	skin
5	chr13:80232400-80233800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:80232400-80233800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:80232400-80233800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:80232400-80233800	Enhancers	Fetal Lung	lung
9	chr13:80232400-80234000	Enhancers	Fetal Stomach	stomach
10	chr13:80232400-80234200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:80232400-80234400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:80232600-80233000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:80232600-80233000	Enhancers	Esophagus	oesophagus
14	chr13:80232600-80233000	Enhancers	Lung	lung
15	chr13:80232600-80233000	Enhancers	Right Ventricle	heart
16	chr13:80232600-80233000	Enhancers	Stomach Smooth Muscle	stomach
17	chr13:80232600-80233200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:80232600-80233200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:80232600-80233200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:80232600-80233200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr13:80232600-80233200	Enhancers	Placenta	Placenta
22	chr13:80232600-80233200	Enhancers	Left Ventricle	heart
23	chr13:80232600-80233200	Enhancers	Psoas Muscle	Psoas
24	chr13:80232600-80233200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr13:80232600-80233400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:80232600-80233600	Enhancers	Adipose Nuclei	Adipose
27	chr13:80232600-80233600	Enhancers	Fetal Muscle Trunk	muscle
28	chr13:80232600-80233800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr13:80232600-80233800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:80232600-80233800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:80232600-80233800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:80232600-80233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr13:80232600-80233800	Enhancers	Duodenum Mucosa	Duodenum
34	chr13:80232600-80233800	Enhancers	Fetal Intestine Small	intestine
35	chr13:80232600-80233800	Enhancers	Fetal Kidney	kidney
36	chr13:80232600-80233800	Enhancers	Fetal Thymus	thymus
37	chr13:80232600-80233800	Enhancers	Ovary	ovary
38	chr13:80232600-80233800	Enhancers	Pancreas	Pancrea
39	chr13:80232600-80233800	Enhancers	Right Atrium	heart
40	chr13:80232600-80233800	Enhancers	HMEC	breast
41	chr13:80232600-80234000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr13:80232600-80234000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:80232600-80234400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:80232600-80234400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr13:80232600-80234400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:80232600-80234400	Enhancers	Fetal Muscle Leg	muscle
47	chr13:80232800-80233200	Enhancers	Colon Smooth Muscle	Colon
48	chr13:80232800-80233200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr13:80232800-80233200	Flanking Active TSS	HSMM	muscle
50	chr13:80232800-80233400	Enhancers	Duodenum Smooth Muscle	Duodenum

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