Variant report

Variant	rs60008914
Chromosome Location	chr5:111674295-111674296
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111672466..111674712-chr5:111689508..111691131,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10037235	0.80[ASN][1000 genomes]
rs11739473	0.90[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11744328	0.84[AFR][1000 genomes]
rs12653972	0.90[AFR][1000 genomes]
rs13188902	0.87[ASN][1000 genomes]
rs13190229	0.90[ASN][1000 genomes]
rs13355094	0.90[AFR][1000 genomes]
rs13355356	0.90[AFR][1000 genomes]
rs1474361	0.84[AFR][1000 genomes]
rs1474362	0.84[AFR][1000 genomes]
rs2162739	0.87[AFR][1000 genomes]
rs365230	0.83[AFR][1000 genomes]
rs420548	0.82[AFR][1000 genomes]
rs441345	0.82[AFR][1000 genomes]
rs444205	0.84[AFR][1000 genomes]
rs451168	0.82[AFR][1000 genomes]
rs4635976	0.86[ASN][1000 genomes]
rs4958038	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4958042	0.84[AFR][1000 genomes]
rs885137	0.90[AFR][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	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111665400-111674600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:111669400-111674400	Enhancers	Fetal Heart	heart
4	chr5:111669400-111676000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:111669400-111678000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:111669600-111674400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:111669600-111677800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:111669800-111674400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:111669800-111674400	Weak transcription	Fetal Lung	lung
10	chr5:111669800-111683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:111670000-111675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:111671800-111674400	Weak transcription	Gastric	stomach
13	chr5:111673000-111675800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:111673200-111674600	Enhancers	Right Ventricle	heart
15	chr5:111673600-111674400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:111673600-111674600	Enhancers	HUVEC	blood vessel
17	chr5:111673600-111675000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:111673600-111675000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:111673600-111676200	Enhancers	Left Ventricle	heart
20	chr5:111673600-111676200	Enhancers	Psoas Muscle	Psoas
21	chr5:111673600-111676800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:111673800-111675000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:111673800-111675000	Flanking Active TSS	Hela-S3	cervix
24	chr5:111674000-111674800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:111674000-111674800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:111674000-111674800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:111674000-111675000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:111674000-111675000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:111674000-111675000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:111674000-111675200	Enhancers	Right Atrium	heart
31	chr5:111674000-111675400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:111674000-111675600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:111674000-111676200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:111674200-111674600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:111674200-111674600	Weak transcription	Lung	lung
36	chr5:111674200-111674800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr5:111674200-111674800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:111674200-111674800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:111674200-111674800	Enhancers	Brain Angular Gyrus	brain
40	chr5:111674200-111674800	Weak transcription	Esophagus	oesophagus
41	chr5:111674200-111674800	Enhancers	NH-A	brain
42	chr5:111674200-111674800	Enhancers	NHDF-Ad	bronchial
43	chr5:111674200-111674800	Enhancers	Osteobl	bone
44	chr5:111674200-111675000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:111674200-111675000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:111674200-111675000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:111674200-111675000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr5:111674200-111675000	Enhancers	Adipose Nuclei	Adipose
49	chr5:111674200-111675000	Enhancers	Brain Cingulate Gyrus	brain
50	chr5:111674200-111675000	Enhancers	Brain Substantia Nigra	brain

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