Variant report

Variant	rs7841307
Chromosome Location	chr8:48902472-48902473
allele	C/T
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	chr8:48900497..48902093-chr8:48902216..48905127,2	MCF-7	breast:
3	chr8:48883221..48885743-chr8:48901400..48903246,2	MCF-7	breast:
4	chr8:48896074..48898394-chr8:48900447..48902848,3	K562	blood:
5	chr8:48871178..48874087-chr8:48899526..48903049,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104738	Chromatin interaction
ENSG00000253729	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10093943	0.84[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10095249	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10097429	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11987748	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11998483	0.94[AFR][1000 genomes]
rs17287711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28488251	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28542480	0.98[AFR][1000 genomes]
rs28699569	0.88[AFR][1000 genomes]
rs28701667	0.89[AFR][1000 genomes]
rs28719542	1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28751111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28812773	0.81[AFR][1000 genomes]
rs35590911	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6473874	0.85[AFR][1000 genomes]
rs6982203	0.89[AFR][1000 genomes]
rs6984595	0.88[AFR][1000 genomes]
rs7002719	1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7819424	0.85[AFR][1000 genomes]
rs7828134	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7839604	0.81[AFR][1000 genomes]
rs8177999	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178024	0.89[AFR][1000 genomes]
rs8178037	0.94[AFR][1000 genomes]
rs8178117	0.85[AFR][1000 genomes]
rs8178176	0.83[AFR][1000 genomes]
rs8178185	0.85[AFR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48874800-48905800	Weak transcription	Stomach Mucosa	stomach
2	chr8:48890200-48909400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:48890400-48909600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:48890600-48905200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:48891400-48905400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:48891600-48910000	Weak transcription	Fetal Stomach	stomach
7	chr8:48891800-48905400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:48892200-48905400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:48901800-48903000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:48902000-48909200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:48902200-48903800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:48902200-48904000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:48902200-48905400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:48902400-48902600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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