Variant report

Variant	rs185493
Chromosome Location	chr5:177991258-177991259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs171889	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs262007	0.84[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs262010	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs262012	0.87[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs262017	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs262038	0.88[EUR][1000 genomes]
rs262045	0.86[ASW][hapmap];0.87[MEX][hapmap]
rs262053	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs262062	0.83[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs262066	1.00[ASW][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs262071	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs562759	0.82[ASN][1000 genomes]
rs566974	0.89[CHB][hapmap];0.81[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177989200-177991600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:177989200-177992000	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:177990000-177992600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:177990200-177991600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:177990400-177991600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:177990400-177997800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:177990600-177993400	Enhancers	Fetal Stomach	stomach
8	chr5:177990800-177992400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr5:177990800-177992600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:177990800-177992600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:177990800-177992600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:177990800-177992600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:177990800-177993400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:177991000-177992000	Bivalent Enhancer	Fetal Lung	lung
15	chr5:177991000-177992400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:177991000-177992400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:177991000-177992600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:177991200-177992000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:177991200-177992200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:177991200-177992400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr5:177991200-177992600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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