Variant report

Variant	rs17134244
Chromosome Location	chr5:111542092-111542093
allele	A/G
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	GATA1	chr5:111541295-111542225	PBDE	blood:	n/a	chr5:111541834-111541844
2	EP300	chr5:111541512-111542127	K562	blood:	n/a	n/a

Variant related genes	Relation type
EPB41L4A	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17134157	1.00[CEU][hapmap]
rs17134218	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17134223	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134224	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134225	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17134226	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17134228	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17134238	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs17134245	0.88[YRI][hapmap];0.92[AFR][1000 genomes]
rs17134250	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17267182	0.87[EUR][1000 genomes]
rs17268557	0.87[EUR][1000 genomes]
rs17321278	0.87[EUR][1000 genomes]
rs17321396	0.87[EUR][1000 genomes]
rs34008454	0.87[EUR][1000 genomes]
rs55873492	0.87[EUR][1000 genomes]
rs55919756	0.87[EUR][1000 genomes]
rs56062009	0.87[EUR][1000 genomes]
rs57449938	0.88[AFR][1000 genomes]
rs60003028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6871287	1.00[EUR][1000 genomes]
rs6871505	0.87[EUR][1000 genomes]
rs6898180	0.87[EUR][1000 genomes]
rs7715098	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7723060	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs922430	1.00[CEU][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:35 , 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	chr5:111538200-111543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:111538200-111546400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:111538600-111544800	Weak transcription	Fetal Kidney	kidney
15	chr5:111538600-111563600	Weak transcription	Lung	lung
16	chr5:111539000-111553600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:111539400-111553200	Weak transcription	NHEK	skin
18	chr5:111540000-111542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:111540400-111544400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:111540400-111553600	Weak transcription	Fetal Heart	heart
21	chr5:111540600-111542200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:111540600-111542400	Weak transcription	Placenta	Placenta
23	chr5:111541200-111542400	Enhancers	Hela-S3	cervix
24	chr5:111541400-111542200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:111541400-111542200	Flanking Active TSS	K562	blood
26	chr5:111541800-111542200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:111541800-111542400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:111541800-111542600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:111541800-111542800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:111541800-111542800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:111541800-111543000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:111541800-111553800	Weak transcription	Right Ventricle	heart
33	chr5:111542000-111542200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:111542000-111542600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:111542000-111544200	Weak transcription	Left Ventricle	heart

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