Variant report

Variant	rs523407
Chromosome Location	chr7:99435193-99435194
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99427440..99433214-chr7:99433946..99436669,7	K562	blood:
2	chr7:99434310..99436769-chr7:99443746..99446718,2	K562	blood:
3	chr7:99434310..99436769-chr7:99443746..99446761,3	K562	blood:
4	chr7:99429881..99432803-chr7:99433485..99436669,5	K562	blood:
5	chr7:99432826..99435527-chr7:99436007..99438743,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10215184	1.00[ASN][1000 genomes]
rs10225908	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236386	1.00[ASN][1000 genomes]
rs10245581	1.00[ASN][1000 genomes]
rs10272125	1.00[ASN][1000 genomes]
rs10273424	1.00[ASN][1000 genomes]
rs11505840	1.00[ASN][1000 genomes]
rs11505841	1.00[ASN][1000 genomes]
rs11977827	1.00[ASN][1000 genomes]
rs11980179	1.00[ASN][1000 genomes]
rs11981167	1.00[ASN][1000 genomes]
rs13236744	0.85[EUR][1000 genomes]
rs17161997	1.00[ASN][1000 genomes]
rs2082743	1.00[ASN][1000 genomes]
rs28371764	1.00[ASN][1000 genomes]
rs28449324	1.00[ASN][1000 genomes]
rs28988579	1.00[ASN][1000 genomes]
rs34096782	1.00[ASN][1000 genomes]
rs34288759	1.00[ASN][1000 genomes]
rs34395561	1.00[ASN][1000 genomes]
rs34868357	1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35141942	1.00[ASN][1000 genomes]
rs35405904	1.00[ASN][1000 genomes]
rs35649099	1.00[ASN][1000 genomes]
rs472667	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480596	1.00[ASN][1000 genomes]
rs487813	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501275	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516481	1.00[ASN][1000 genomes]
rs517284	1.00[ASN][1000 genomes]
rs528144	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545400	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549061	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558002	1.00[ASN][1000 genomes]
rs558112	1.00[ASN][1000 genomes]
rs559239	1.00[ASN][1000 genomes]
rs565079	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568859	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57256111	1.00[ASN][1000 genomes]
rs57772941	1.00[ASN][1000 genomes]
rs579424	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580123	1.00[ASN][1000 genomes]
rs583353	1.00[ASN][1000 genomes]
rs585071	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599151	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613963	1.00[ASN][1000 genomes]
rs620020	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641761	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641815	0.83[EUR][1000 genomes]
rs642761	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646563	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648515	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660629	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663476	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663493	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663495	1.00[ASN][1000 genomes]
rs66629054	1.00[ASN][1000 genomes]
rs667660	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66953435	1.00[ASN][1000 genomes]
rs671673	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675644	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678040	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679320	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680055	1.00[ASN][1000 genomes]
rs687134	1.00[ASN][1000 genomes]
rs688926	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694924	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694939	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957718	1.00[ASN][1000 genomes]
rs6960775	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787525	1.00[ASN][1000 genomes]
rs7798789	1.00[ASN][1000 genomes]
rs800666	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800667	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800673	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800674	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99422800-99437400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:99427600-99435400	Weak transcription	Adipose Nuclei	Adipose
3	chr7:99429800-99435200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:99431800-99435400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:99431800-99435400	Weak transcription	Pancreas	Pancrea
6	chr7:99432600-99435200	Weak transcription	HepG2	liver
7	chr7:99433800-99465000	Strong transcription	Liver	Liver
8	chr7:99434000-99436400	Enhancers	K562	blood
9	chr7:99434400-99436000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:99435000-99435200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:99435000-99435200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:99435000-99435400	Enhancers	Dnd41	blood
13	chr7:99435000-99435600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:99435000-99435600	Enhancers	Duodenum Mucosa	Duodenum
15	chr7:99435000-99435600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr7:99435000-99435800	Enhancers	Stomach Mucosa	stomach
17	chr7:99435000-99436800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:99435000-99438000	Enhancers	Fetal Intestine Large	intestine

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