Variant report

Variant	rs620602
Chromosome Location	chr11:120006705-120006706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119998412..120001579-chr11:120003638..120006871,3	K562	blood:
2	chr11:120005182..120006747-chr11:120015813..120018578,2	K562	blood:
3	chr11:119994460..119999888-chr11:120004305..120008354,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11217755	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12418601	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12419025	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12421142	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2848728	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851718	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs35650539	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4938788	0.86[AMR][1000 genomes]
rs4938789	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4938791	1.00[CEU][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs547124	0.83[CEU][hapmap];0.89[TSI][hapmap]
rs582071	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs604413	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61900474	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61900479	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs626151	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs657898	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs659912	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs666432	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673292	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs675647	0.88[EUR][1000 genomes]
rs7949789	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr11:120000400-120008400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:120001400-120007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120003200-120008200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:120005600-120007000	Flanking Active TSS	Hela-S3	cervix
5	chr11:120005800-120008000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:120006000-120007800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:120006000-120008800	Active TSS	Esophagus	oesophagus
8	chr11:120006200-120008800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:120006400-120006800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr11:120006400-120008800	Active TSS	Placenta	Placenta
11	chr11:120006400-120008800	Active TSS	Fetal Thymus	thymus
12	chr11:120006400-120008800	Active TSS	Thymus	Thymus
13	chr11:120006600-120006800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:120006600-120009000	Active TSS	HMEC	breast
15	chr11:120006600-120009200	Active TSS	NHEK	skin

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