Variant report

Variant	rs3887654
Chromosome Location	chr5:111553794-111553795
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111552892..111554536-chr5:111555904..111558147,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10515441	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs13357541	1.00[JPT][hapmap]
rs1366145	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17322196	1.00[JPT][hapmap]
rs6886195	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7700588	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7704501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7704736	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9784646	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3887654	EPB41L4A	cis	Artery Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:111504800-111586400	Weak transcription	Gastric	stomach
3	chr5:111519200-111553800	Weak transcription	Pancreas	Pancrea
4	chr5:111538600-111563600	Weak transcription	Lung	lung
5	chr5:111541800-111553800	Weak transcription	Right Ventricle	heart
6	chr5:111545400-111556800	Weak transcription	Fetal Kidney	kidney
7	chr5:111545600-111556400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:111546600-111561600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:111553000-111553800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:111553000-111554200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:111553200-111553800	Enhancers	HMEC	breast
12	chr5:111553200-111554000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:111553200-111554000	Enhancers	NHEK	skin
14	chr5:111553200-111554200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:111553200-111554200	Enhancers	K562	blood
16	chr5:111553400-111553800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:111553400-111554000	Enhancers	A549	lung
18	chr5:111553600-111553800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:111553600-111553800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:111553600-111554000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:111553600-111554000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:111553600-111554200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:111553600-111554200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:111553600-111554200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:111553600-111554200	Enhancers	Esophagus	oesophagus
26	chr5:111553600-111554200	Enhancers	Left Ventricle	heart
27	chr5:111553600-111554200	Enhancers	Right Atrium	heart
28	chr5:111553600-111554200	Enhancers	Hela-S3	cervix
29	chr5:111553600-111554400	Enhancers	Fetal Heart	heart
30	chr5:111553600-111555000	Enhancers	Psoas Muscle	Psoas

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