Variant report

Variant	rs17548729
Chromosome Location	chr5:16428404-16428405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:16428320-16428470	HEEpiC	esophagus:	n/a	n/a
2	POLR2A	chr5:16428376-16428461	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16428340..16430964-chr5:16464329..16467198,2	K562	blood:

Variant related genes	Relation type
ENSG00000249737	TF binding region
ENSG00000173545	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11133849	1.00[ASN][1000 genomes]
rs11959997	0.87[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11960019	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12186470	1.00[ASN][1000 genomes]
rs12186886	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154545	0.88[AMR][1000 genomes]
rs13155177	1.00[ASN][1000 genomes]
rs13155194	1.00[ASN][1000 genomes]
rs13156308	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158624	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163208	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167760	1.00[ASN][1000 genomes]
rs13169278	1.00[ASN][1000 genomes]
rs13174423	1.00[ASN][1000 genomes]
rs13174815	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175322	1.00[ASN][1000 genomes]
rs13181082	1.00[ASN][1000 genomes]
rs13183026	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183291	1.00[ASN][1000 genomes]
rs13184355	1.00[ASN][1000 genomes]
rs13185483	1.00[ASN][1000 genomes]
rs13188528	1.00[ASN][1000 genomes]
rs2166383	1.00[ASN][1000 genomes]
rs34171525	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34344458	1.00[ASN][1000 genomes]
rs34610986	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35379096	1.00[ASN][1000 genomes]
rs35413922	1.00[ASN][1000 genomes]
rs35429573	1.00[ASN][1000 genomes]
rs35431678	1.00[ASN][1000 genomes]
rs35688054	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35806092	1.00[ASN][1000 genomes]
rs3849100	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889076	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620025	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702145	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4702147	1.00[ASN][1000 genomes]
rs4702148	1.00[ASN][1000 genomes]
rs4702150	1.00[ASN][1000 genomes]
rs56012028	1.00[ASN][1000 genomes]
rs6554928	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6554929	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6875404	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883888	0.96[CEU][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884712	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888052	1.00[ASN][1000 genomes]
rs6888589	1.00[ASN][1000 genomes]
rs6891867	0.96[CEU][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723124	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9968771	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4736	chr5:16393955-16439055	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16419200-16446000	Weak transcription	Pancreas	Pancrea
2	chr5:16421200-16430800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:16425800-16430800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:16427200-16429000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:16427200-16429000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:16427400-16428600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:16427400-16428600	Enhancers	Fetal Heart	heart
8	chr5:16427600-16428600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr5:16427600-16428600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:16427800-16428600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:16428000-16428600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:16428000-16428600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:16428200-16428800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:16428200-16431400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:16428200-16431600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:16428400-16428600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:16428400-16428800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:16428400-16431600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:16428400-16433000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:16428400-16464600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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