Variant report

Variant	rs73344441
Chromosome Location	chr5:177973055-177973056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs56080876	1.00[AMR][1000 genomes]
rs57747314	1.00[AMR][1000 genomes]
rs58190465	1.00[AMR][1000 genomes]
rs59019490	1.00[AMR][1000 genomes]
rs59428600	1.00[AMR][1000 genomes]
rs61153136	1.00[AMR][1000 genomes]
rs73338678	1.00[AMR][1000 genomes]
rs73338684	1.00[AMR][1000 genomes]
rs73340607	1.00[AMR][1000 genomes]
rs73340609	1.00[AMR][1000 genomes]
rs73342643	1.00[AMR][1000 genomes]
rs73342652	1.00[AMR][1000 genomes]
rs73342669	1.00[AMR][1000 genomes]
rs73342699	1.00[AMR][1000 genomes]
rs73344410	1.00[AMR][1000 genomes]
rs73344414	1.00[AMR][1000 genomes]
rs73344415	1.00[AMR][1000 genomes]
rs73344429	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344439	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344468	1.00[AMR][1000 genomes]
rs73803492	1.00[AMR][1000 genomes]
rs7704489	1.00[AMR][1000 genomes]
rs7704682	1.00[AMR][1000 genomes]
rs7725137	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv883215	chr5:177961860-177980792	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177954600-177973800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:177968600-177979400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:177968800-177974600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:177970000-177974000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:177970200-177974200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:177970200-177974800	Enhancers	Fetal Heart	heart
7	chr5:177970600-177974000	Enhancers	Left Ventricle	heart
8	chr5:177971200-177973400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:177971200-177974600	Enhancers	Right Ventricle	heart
10	chr5:177971400-177974000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:177972200-177973200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:177972200-177973200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:177972200-177973400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:177972400-177973200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:177972400-177974000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr5:177972400-177974600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:177972600-177974400	Enhancers	Right Atrium	heart
18	chr5:177972800-177973400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:177972800-177973400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:177972800-177973800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:177972800-177973800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:177972800-177973800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:177972800-177974000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:177972800-177975200	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:177973000-177973400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:177973000-177974000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr5:177973000-177975200	Weak transcription	Brain Cingulate Gyrus	brain

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