Variant report

Variant	rs10043483
Chromosome Location	chr5:58217373-58217374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10060863	1.00[AFR][1000 genomes]
rs10066704	1.00[AFR][1000 genomes]
rs10076213	1.00[AFR][1000 genomes]
rs13328141	1.00[AFR][1000 genomes]
rs13354132	1.00[AFR][1000 genomes]
rs17290147	1.00[AFR][1000 genomes]
rs28430615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57337307	1.00[AFR][1000 genomes]
rs58705088	1.00[AFR][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58210000-58218600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:58212000-58218400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:58213200-58221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:58213400-58218800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:58214600-58217600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:58215400-58218200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:58215400-58218400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:58215600-58218200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:58215800-58217400	Enhancers	Fetal Muscle Leg	muscle
10	chr5:58216000-58218400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:58216200-58218400	Weak transcription	Fetal Heart	heart
12	chr5:58216400-58217400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:58216400-58217400	Enhancers	Psoas Muscle	Psoas
14	chr5:58216400-58217400	Enhancers	NH-A	brain
15	chr5:58216600-58217400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:58216600-58217400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:58216600-58217400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:58216600-58217400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:58216600-58217400	Enhancers	Colon Smooth Muscle	Colon
20	chr5:58216600-58217400	Enhancers	Fetal Stomach	stomach
21	chr5:58216600-58217400	Enhancers	Left Ventricle	heart
22	chr5:58216600-58217400	Enhancers	Pancreas	Pancrea
23	chr5:58216600-58217400	Enhancers	Spleen	Spleen
24	chr5:58216600-58217400	Enhancers	HSMMtube	muscle
25	chr5:58216600-58217600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:58216600-58218600	Enhancers	HUVEC	blood vessel
27	chr5:58216600-58220200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:58216600-58220600	Enhancers	Right Atrium	heart
29	chr5:58216600-58222800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:58216600-58223200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:58216600-58224000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:58216800-58217600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:58216800-58217600	Enhancers	HSMM	muscle
34	chr5:58216800-58218000	Weak transcription	Brain Germinal Matrix	brain
35	chr5:58216800-58218400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:58216800-58218400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:58216800-58218400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:58216800-58221200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:58216800-58221400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:58217000-58218200	Weak transcription	Osteobl	bone
41	chr5:58217000-58218600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:58217000-58221400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:58217200-58217400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:58217200-58217400	Enhancers	Aorta	Aorta
45	chr5:58217200-58217400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:58217200-58217400	Enhancers	NHEK	skin
47	chr5:58217200-58217600	Enhancers	Brain Substantia Nigra	brain
48	chr5:58217200-58218200	Weak transcription	A549	lung
49	chr5:58217200-58218800	Enhancers	Right Ventricle	heart

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