Variant report

Variant	rs41520946
Chromosome Location	chr4:55948593-55948594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10034873	1.00[EUR][1000 genomes]
rs10212910	1.00[EUR][1000 genomes]
rs17085320	1.00[EUR][1000 genomes]
rs17085340	1.00[EUR][1000 genomes]
rs17085382	1.00[EUR][1000 genomes]
rs17085431	1.00[EUR][1000 genomes]
rs28431274	1.00[EUR][1000 genomes]
rs28534637	1.00[EUR][1000 genomes]
rs28579065	1.00[EUR][1000 genomes]
rs28585443	1.00[EUR][1000 genomes]
rs28664865	1.00[EUR][1000 genomes]
rs28730308	1.00[EUR][1000 genomes]
rs57190330	1.00[EUR][1000 genomes]
rs58047235	1.00[EUR][1000 genomes]
rs6830995	1.00[EUR][1000 genomes]
rs6835587	1.00[EUR][1000 genomes]
rs6836091	1.00[EUR][1000 genomes]
rs6843015	1.00[EUR][1000 genomes]
rs7656132	1.00[EUR][1000 genomes]
rs7664999	1.00[EUR][1000 genomes]
rs7673410	1.00[EUR][1000 genomes]
rs7693155	1.00[EUR][1000 genomes]
rs9312659	1.00[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	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv829939	chr4:55856771-56005011	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv432603	chr4:55877236-55970782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55942600-55953400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:55942600-55953600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:55943200-55960600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:55943200-55990000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:55944000-55951200	Weak transcription	Lung	lung
6	chr4:55945600-55950000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:55945800-55951200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:55946200-55948800	Genic enhancers	HUVEC	blood vessel
9	chr4:55946200-55952800	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:55946200-55953800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:55946400-55952000	Weak transcription	Brain Substantia Nigra	brain
12	chr4:55946400-55953200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:55946400-55953600	Weak transcription	Right Ventricle	heart
14	chr4:55946600-55950800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:55946600-55953000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:55946600-55953200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:55946600-55963000	Weak transcription	Psoas Muscle	Psoas
18	chr4:55946800-55952600	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:55946800-55953200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:55946800-55953600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:55946800-55971800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:55946800-55982800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr4:55947000-55951200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:55947000-55953600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:55947000-55953600	Weak transcription	Adipose Nuclei	Adipose
26	chr4:55947200-55982600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:55947400-55953400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:55947400-55953600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:55948000-55950200	Strong transcription	Left Ventricle	heart
30	chr4:55948000-55950400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:55948000-55953200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:55948000-55960200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:55948000-55984800	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr4:55948200-55949000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:55948400-55953200	Weak transcription	Brain Angular Gyrus	brain

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