Variant report

Variant	rs7805353
Chromosome Location	chr7:129001960-129001961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128993154..128995879-chr7:128999673..129002595,3	K562	blood:
2	chr7:128993154..128999533-chr7:128999673..129003390,7	K562	blood:
3	chr7:128997185..128999247-chr7:129001308..129004023,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10235589	0.87[AMR][1000 genomes]
rs10264209	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10269495	0.87[AMR][1000 genomes]
rs10281269	0.81[LWK][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs10480492	1.00[EUR][1000 genomes]
rs1248453	1.00[EUR][1000 genomes]
rs12533108	0.87[AMR][1000 genomes]
rs1405475	0.87[AMR][1000 genomes]
rs1526898	0.87[AMR][1000 genomes]
rs1526899	0.81[YRI][hapmap];0.87[AMR][1000 genomes]
rs1549788	0.87[AMR][1000 genomes]
rs1609043	0.87[AMR][1000 genomes]
rs1991645	0.87[AMR][1000 genomes]
rs2052962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2402946	0.87[AMR][1000 genomes]
rs2402947	0.81[LWK][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs2566875	0.87[AMR][1000 genomes]
rs2694575	0.87[AMR][1000 genomes]
rs2694583	0.87[AMR][1000 genomes]
rs2694591	0.81[LWK][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs2703098	1.00[EUR][1000 genomes]
rs2718085	0.87[AMR][1000 genomes]
rs2718090	0.81[LWK][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs2718091	0.81[LWK][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs2718097	0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs2718100	0.87[AMR][1000 genomes]
rs2718109	1.00[EUR][1000 genomes]
rs28399138	0.87[AMR][1000 genomes]
rs28437865	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475451	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28864519	1.00[AMR][1000 genomes]
rs6467234	0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs6467236	0.87[AMR][1000 genomes]
rs682299	1.00[EUR][1000 genomes]
rs6949882	0.87[AMR][1000 genomes]
rs6950279	0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs6959266	1.00[MEX][hapmap]
rs6977408	1.00[MEX][hapmap]
rs9641848	0.87[AMR][1000 genomes]
rs9649526	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128975000-129002600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:128984600-129007800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:128989200-129044200	Weak transcription	Ovary	ovary
4	chr7:128991400-129007600	Weak transcription	NHEK	skin
5	chr7:128993200-129006000	Weak transcription	Aorta	Aorta
6	chr7:128994600-129007400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:128994800-129007600	Weak transcription	Primary T cells from cord blood	blood
8	chr7:128997000-129007400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:128998600-129002600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:128999600-129002000	Weak transcription	Fetal Intestine Small	intestine
11	chr7:128999600-129008000	Weak transcription	Small Intestine	intestine
12	chr7:128999800-129007800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:129001400-129002000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:129001800-129002000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr7:129001800-129003000	Enhancers	Fetal Intestine Large	intestine

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