Variant report

Variant	rs7222218
Chromosome Location	chr17:59795212-59795213
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59791825..59795650-chr17:59840318..59843979,3	MCF-7	breast:
2	chr17:59795103..59795884-chr20:32861688..32862404,2	MCF-7	breast:
3	chr17:59794606..59796745-chr20:55819557..55822535,2	MCF-7	breast:
4	chr17:59794604..59797710-chr20:45988033..45991056,3	MCF-7	breast:
5	chr17:59794574..59796740-chr17:59883852..59885570,2	MCF-7	breast:
6	chr17:59771754..59773397-chr17:59792902..59795439,2	MCF-7	breast:
7	chr17:59701096..59703169-chr17:59794150..59795732,2	MCF-7	breast:
8	chr17:59487923..59489909-chr17:59793689..59797576,3	MCF-7	breast:
9	chr14:99946727..99948388-chr17:59793982..59796517,2	MCF-7	breast:
10	chr17:59784609..59786378-chr17:59793738..59795301,2	MCF-7	breast:
11	chr1:149858121..149859787-chr17:59793372..59795556,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267280	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000090061	Chromatin interaction
ENSG00000183576	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16945506	0.89[ASW][hapmap]
rs7209316	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8066209	1.00[ASW][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8077553	0.85[LWK][hapmap]
rs9890079	0.94[AFR][1000 genomes]
rs9891463	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9901708	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs9901948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9905729	1.00[AMR][1000 genomes]
rs9906120	1.00[AMR][1000 genomes]
rs9908837	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9910911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9913108	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv908673	chr17:59767501-59926645	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59766000-59819000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:59778200-59805800	Weak transcription	Thymus	Thymus
3	chr17:59781600-59835400	Weak transcription	Hela-S3	cervix
4	chr17:59784400-59815200	Weak transcription	HMEC	breast
5	chr17:59786600-59815400	Weak transcription	Fetal Thymus	thymus
6	chr17:59789800-59795400	Weak transcription	Fetal Intestine Small	intestine
7	chr17:59792000-59815200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:59792800-59796200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:59792800-59796400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:59793200-59803400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:59793200-59819400	Weak transcription	NH-A	brain
12	chr17:59793400-59796200	ZNF genes & repeats	Dnd41	blood
13	chr17:59793600-59821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:59793800-59796800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr17:59794200-59815200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:59794200-59819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:59794400-59815200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:59794400-59816200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:59794400-59848200	Weak transcription	HUVEC	blood vessel
20	chr17:59794600-59807200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:59794800-59806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:59794800-59815200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:59795200-59795400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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