Variant report

Variant	rs45593341
Chromosome Location	chr7:99304911-99304912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99299012..99301663-chr7:99302830..99305299,2	K562	blood:
2	chr7:99304648..99307501-chr7:99308738..99311452,2	K562	blood:

Variant related genes	Relation type
ENSG00000221487	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11734	0.94[ASN][1000 genomes]
rs11972210	0.88[ASN][1000 genomes]
rs2293256	0.83[ASN][1000 genomes]
rs2687133	0.90[EUR][1000 genomes]
rs2687134	0.90[EUR][1000 genomes]
rs2741872	0.85[EUR][1000 genomes]
rs28365067	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3528	0.83[ASN][1000 genomes]
rs41258334	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41279866	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45527841	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45532337	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646461	0.95[EUR][1000 genomes]
rs55830753	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55942267	0.83[ASN][1000 genomes]
rs56167514	0.88[ASN][1000 genomes]
rs57367781	0.88[ASN][1000 genomes]
rs57830676	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58649180	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs59240302	0.88[ASN][1000 genomes]
rs59574285	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59672032	0.83[ASN][1000 genomes]
rs6956305	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6974831	0.88[ASN][1000 genomes]
rs6976017	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6977165	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72494455	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73401507	0.83[ASN][1000 genomes]
rs73401510	0.83[ASN][1000 genomes]
rs73401516	0.83[ASN][1000 genomes]
rs73403247	0.88[ASN][1000 genomes]
rs73403272	0.88[ASN][1000 genomes]
rs73403286	0.88[ASN][1000 genomes]
rs73403290	0.88[ASN][1000 genomes]
rs73405247	0.88[ASN][1000 genomes]
rs73711293	0.88[ASN][1000 genomes]
rs73711294	0.88[ASN][1000 genomes]
rs73713507	0.88[ASN][1000 genomes]
rs73713531	0.94[ASN][1000 genomes]
rs73713580	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73713594	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73713595	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7794068	0.88[ASN][1000 genomes]
rs7805661	0.88[ASN][1000 genomes]
rs7806754	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952319	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv970911	chr7:99275492-99333590	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv888771	chr7:99294762-99355278	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3378448	chr7:99295540-99331065	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv522107	chr7:99300758-99314986	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99291400-99306600	Weak transcription	Left Ventricle	heart
2	chr7:99297800-99316200	Weak transcription	Gastric	stomach
3	chr7:99297800-99317400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:99298000-99311600	Weak transcription	Pancreas	Pancrea
5	chr7:99301400-99315400	Strong transcription	Liver	Liver
6	chr7:99303200-99318200	Weak transcription	Fetal Heart	heart
7	chr7:99303200-99337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:99303800-99305200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:99304200-99306800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:99304600-99305200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr7:99304800-99305000	ZNF genes & repeats	Brain Angular Gyrus	brain
12	chr7:99304800-99305800	Weak transcription	Ovary	ovary
13	chr7:99304800-99318000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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