Variant report

Variant	rs71611445
Chromosome Location	chr5:177987896-177987897
allele	C/T
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:14)

rs_ID	r²[population]
rs10903227	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249552	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743116	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960831	1.00[ASN][1000 genomes]
rs262060	1.00[ASN][1000 genomes]
rs262067	0.93[ASN][1000 genomes]
rs34594012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34884264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418147	0.93[ASN][1000 genomes]
rs510200	1.00[ASN][1000 genomes]
rs6859361	1.00[ASN][1000 genomes]
rs6880593	0.86[EUR][1000 genomes]
rs6888155	1.00[ASN][1000 genomes]
rs6898605	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177982200-177990200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:177983200-177988000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:177983200-177991000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:177983400-177988200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:177984200-177988000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:177984800-177988000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:177985200-177988000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:177987000-177988400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:177987200-177988600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:177987200-177989000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:177987200-177989200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:177987200-177989200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:177987200-177989200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:177987400-177988800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:177987400-177989000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:177987400-177989200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:177987400-177989200	Enhancers	Fetal Thymus	thymus
18	chr5:177987600-177988600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:177987600-177988600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:177987600-177989200	Enhancers	Fetal Stomach	stomach
21	chr5:177987600-177989200	Enhancers	Dnd41	blood
22	chr5:177987800-177989000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:177987800-177989000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:177987800-177989000	Enhancers	Fetal Lung	lung

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