Variant report

Variant	rs4873265
Chromosome Location	chr8:48901125-48901126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48872720..48874508-chr8:48901078..48903958,2	K562	blood:
2	chr8:48896074..48898394-chr8:48900447..48902848,3	K562	blood:
3	chr8:48871178..48874087-chr8:48899526..48903049,3	MCF-7	breast:
4	chr8:48900497..48902093-chr8:48902216..48905127,2	MCF-7	breast:
5	chr8:48900431..48902138-chr8:48907383..48908901,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253729	Chromatin interaction
ENSG00000104738	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1231202	1.00[CEU][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs1231204	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4278157	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4873774	0.95[EUR][1000 genomes]
rs6473979	0.82[EUR][1000 genomes]
rs762679	1.00[YRI][hapmap]
rs7845046	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8178108	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9298499	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1032750	chr8:48877179-48924828	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48874800-48905800	Weak transcription	Stomach Mucosa	stomach
2	chr8:48889800-48901600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:48889800-48901600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:48890200-48902000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:48890200-48909400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:48890400-48901400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:48890400-48901600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:48890400-48901600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:48890400-48909600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:48890600-48905200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:48891400-48901800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:48891400-48905400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:48891600-48901800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:48891600-48910000	Weak transcription	Fetal Stomach	stomach
15	chr8:48891800-48901600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:48891800-48905400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:48892000-48901600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:48892000-48901600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:48892000-48901800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:48892200-48901600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:48892200-48901600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:48892200-48905400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:48892600-48901600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:48892600-48901600	Weak transcription	Fetal Thymus	thymus

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