Variant report

Variant	rs4635975
Chromosome Location	chr5:111589493-111589494
allele	C/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	STAT3	chr5:111589289-111590011	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr5:111589223-111590360	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr5:111589490-111590263	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr5:111589473-111590044	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:111589403-111590157	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:111589482-111590015	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:111589456-111589977	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr5:111589480-111590360	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111586727..111589187-chr5:111589233..111591104,2	K562	blood:
2	chr5:111587450..111590273-chr5:111592333..111594588,2	K562	blood:

Variant related genes	Relation type
EPB41L4A	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10037824	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10478074	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10478076	0.89[ASN][1000 genomes]
rs12652766	0.89[ASN][1000 genomes]
rs12655450	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12656841	0.90[ASN][1000 genomes]
rs12719140	0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13153601	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13358904	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28620667	0.97[ASN][1000 genomes]
rs34819608	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs35005258	0.90[ASN][1000 genomes]
rs36049225	0.90[ASN][1000 genomes]
rs4323272	0.94[CHB][hapmap];0.90[ASN][1000 genomes]
rs4602685	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4958020	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4958024	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4958025	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4958026	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4958029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[ASN][1000 genomes]
rs56288086	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57970031	0.96[ASN][1000 genomes]
rs59775924	0.96[ASN][1000 genomes]
rs60823180	0.98[ASN][1000 genomes]
rs61475230	0.93[ASN][1000 genomes]
rs61535569	0.98[ASN][1000 genomes]
rs62364080	0.94[ASN][1000 genomes]
rs62367266	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6594577	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67631852	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6878423	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6879361	0.96[ASN][1000 genomes]
rs7715255	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7716479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9326851	0.94[CHB][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111558800-111591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:111564600-111590000	Weak transcription	Left Ventricle	heart
3	chr5:111564600-111609600	Weak transcription	Pancreas	Pancrea
4	chr5:111567400-111602400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:111568600-111609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:111578600-111590000	Weak transcription	Right Ventricle	heart
7	chr5:111581600-111590000	Weak transcription	Aorta	Aorta
8	chr5:111581800-111595000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:111583200-111590600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:111584600-111589800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:111584600-111590000	Weak transcription	Psoas Muscle	Psoas
12	chr5:111584800-111592200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:111584800-111605600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:111585000-111590000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:111585600-111590000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:111585600-111593400	Weak transcription	Fetal Brain Female	brain
17	chr5:111585800-111606000	Weak transcription	Spleen	Spleen
18	chr5:111586600-111590000	Weak transcription	Esophagus	oesophagus
19	chr5:111586600-111590000	Weak transcription	Lung	lung
20	chr5:111586600-111626400	Weak transcription	Gastric	stomach
21	chr5:111586800-111590000	Weak transcription	Right Atrium	heart
22	chr5:111587000-111589600	Weak transcription	Fetal Heart	heart
23	chr5:111588200-111589600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:111588200-111589600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:111589200-111589600	Weak transcription	Adipose Nuclei	Adipose
26	chr5:111589200-111590600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr5:111589400-111590400	Enhancers	HUVEC	blood vessel
28	chr5:111589400-111590600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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