Variant report

Variant	rs6810872
Chromosome Location	chr4:55559563-55559564
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17240054	0.82[EUR][1000 genomes]
rs2237019	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2237020	0.82[EUR][1000 genomes]
rs2237021	0.84[EUR][1000 genomes]
rs2237023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237025	0.84[CEU][hapmap]
rs2282775	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2537866	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2537867	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2703461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703464	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2855770	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28729669	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3020825	0.87[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3020826	0.83[EUR][1000 genomes]
rs3020827	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs3111800	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3134885	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4864919	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1009516	chr4:55548449-55560839	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:55545800-55562000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:55548000-55561600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:55551800-55561800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:55554600-55559800	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:55554600-55562600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:55554600-55566400	Weak transcription	NH-A	brain
8	chr4:55555200-55559600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:55555200-55573600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:55555600-55574400	Weak transcription	Fetal Stomach	stomach
11	chr4:55556600-55561600	Weak transcription	Ovary	ovary
12	chr4:55557600-55559600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:55557800-55564200	Weak transcription	NHDF-Ad	bronchial
14	chr4:55557800-55594000	Weak transcription	Aorta	Aorta
15	chr4:55558200-55564400	Weak transcription	Fetal Thymus	thymus
16	chr4:55558400-55561400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:55558600-55559600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:55558600-55561000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:55559000-55559800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:55559200-55559800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:55559200-55562200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:55559400-55561600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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