Variant report

Variant	rs60745554
Chromosome Location	chr5:177850345-177850346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177838677..177840723-chr5:177850329..177853314,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10050728	0.89[EUR][1000 genomes]
rs10059706	0.93[ASN][1000 genomes]
rs10063441	0.89[EUR][1000 genomes]
rs17081205	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17081256	0.93[ASN][1000 genomes]
rs17081260	0.92[ASN][1000 genomes]
rs28657401	0.87[EUR][1000 genomes]
rs4357054	0.87[EUR][1000 genomes]
rs4541676	0.87[EUR][1000 genomes]
rs4618447	0.93[ASN][1000 genomes]
rs59697910	0.85[EUR][1000 genomes]
rs60667997	0.89[EUR][1000 genomes]
rs61636631	0.96[ASN][1000 genomes]
rs62389411	0.89[EUR][1000 genomes]
rs62389412	0.87[EUR][1000 genomes]
rs62389413	0.87[EUR][1000 genomes]
rs6422347	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6422348	0.94[ASN][1000 genomes]
rs6601235	0.97[ASN][1000 genomes]
rs6601236	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6601237	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6882668	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6886832	0.89[ASN][1000 genomes]
rs6892799	0.94[ASN][1000 genomes]
rs72648835	0.92[ASN][1000 genomes]
rs72648836	0.90[ASN][1000 genomes]
rs7711430	0.93[ASN][1000 genomes]
rs7726125	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	nsv883213	chr5:177811754-177947771	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv15459	chr5:177847905-177852613	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv526499	chr5:177848109-177852582	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv441978	chr5:177848431-177852580	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177840000-177855000	Weak transcription	Right Atrium	heart
2	chr5:177841200-177854400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:177844800-177851200	Weak transcription	Fetal Lung	lung
4	chr5:177846200-177851800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:177846600-177856000	Weak transcription	Gastric	stomach
6	chr5:177847200-177854600	Weak transcription	Fetal Kidney	kidney
7	chr5:177847800-177850400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:177848400-177851200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:177848800-177850800	Enhancers	Fetal Heart	heart
10	chr5:177848800-177851800	Enhancers	Fetal Stomach	stomach
11	chr5:177848800-177859800	Strong transcription	Thymus	Thymus
12	chr5:177849000-177851000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:177849000-177852600	Weak transcription	Fetal Thymus	thymus
14	chr5:177849200-177854400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:177849400-177854400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:177849400-177855000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:177849600-177850400	Weak transcription	Left Ventricle	heart
18	chr5:177849600-177850600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:177849600-177851000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:177849600-177851000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:177849600-177851200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:177849600-177851400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:177849600-177853000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:177849600-177854400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:177849600-177855400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:177849600-177856000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:177849800-177851000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:177849800-177851400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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