Variant report

Variant	rs17134245
Chromosome Location	chr5:111544856-111544857
allele	G/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	EBF1	chr5:111544755-111545267	GM12878	blood:	n/a	chr5:111545084-111545095
2	EP300	chr5:111544856-111544935	GM12878	blood:	n/a	n/a
3	GATA1	chr5:111544332-111544938	PBDE	blood:	n/a	n/a
4	CREB1	chr5:111544773-111545130	GM12878	blood:	n/a	n/a
5	RUNX3	chr5:111544655-111545033	GM12878	blood:	n/a	n/a
6	MXI1	chr5:111544769-111545001	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
EPB41L4A	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10515447	1.00[TSI][hapmap]
rs17134223	0.95[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs17134224	0.88[AFR][1000 genomes]
rs17134229	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs17134238	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134242	1.00[AMR][1000 genomes]
rs17134244	0.88[YRI][hapmap];0.92[AFR][1000 genomes]
rs17134328	1.00[TSI][hapmap]
rs2140623	1.00[TSI][hapmap]
rs2416285	1.00[TSI][hapmap]
rs57449938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60003028	0.94[AFR][1000 genomes]
rs7723060	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs7733415	1.00[TSI][hapmap]
rs986797	1.00[TSI][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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
2	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
3	chr5:111502800-111546000	Weak transcription	Ovary	ovary
4	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:111504800-111586400	Weak transcription	Gastric	stomach
6	chr5:111510800-111547400	Weak transcription	HUVEC	blood vessel
7	chr5:111519000-111546400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:111519200-111553800	Weak transcription	Pancreas	Pancrea
9	chr5:111519800-111553600	Weak transcription	Esophagus	oesophagus
10	chr5:111529800-111553600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:111538000-111553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:111538200-111546400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:111538600-111563600	Weak transcription	Lung	lung
14	chr5:111539000-111553600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:111539400-111553200	Weak transcription	NHEK	skin
16	chr5:111540400-111553600	Weak transcription	Fetal Heart	heart
17	chr5:111541800-111553800	Weak transcription	Right Ventricle	heart
18	chr5:111542400-111546200	Weak transcription	Hela-S3	cervix
19	chr5:111542400-111546400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:111542400-111546400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:111542600-111545000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:111542600-111546400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:111542800-111546200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:111542800-111553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:111543200-111545000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:111544200-111545400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:111544400-111545200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:111544400-111545200	Enhancers	K562	blood
29	chr5:111544600-111553600	Weak transcription	Left Ventricle	heart
30	chr5:111544800-111545200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:111544800-111545400	Enhancers	Fetal Kidney	kidney
32	chr5:111544800-111545600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:111544800-111545600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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