Variant report

Variant	rs7222345
Chromosome Location	chr17:17289943-17289944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17283894..17285610-chr17:17289110..17290845,2	K562	blood:
2	chr17:17289655..17293959-chr17:17349314..17352438,5	MCF-7	breast:
3	chr17:17288032..17290457-chr17:17396061..17397654,2	MCF-7	breast:
4	chr17:17288796..17291218-chr17:17398722..17400982,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28386962	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615897	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28694472	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502590	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7216428	1.00[ASN][1000 genomes]
rs7216582	1.00[ASN][1000 genomes]
rs7223785	1.00[ASN][1000 genomes]
rs73286451	1.00[ASN][1000 genomes]
rs73286465	1.00[ASN][1000 genomes]
rs73286467	1.00[ASN][1000 genomes]
rs8068177	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs8069248	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8070596	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891303	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9909266	0.83[EUR][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	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17281600-17290600	Weak transcription	Esophagus	oesophagus
2	chr17:17284200-17290000	Weak transcription	Pancreas	Pancrea
3	chr17:17285800-17290800	Weak transcription	Hela-S3	cervix
4	chr17:17287600-17292400	Enhancers	Fetal Muscle Leg	muscle
5	chr17:17287600-17292600	Enhancers	Fetal Muscle Trunk	muscle
6	chr17:17287800-17290600	Enhancers	Brain Germinal Matrix	brain
7	chr17:17288400-17290200	Enhancers	Brain Hippocampus Middle	brain
8	chr17:17288600-17290200	Enhancers	Fetal Lung	lung
9	chr17:17288800-17290400	Enhancers	Brain Anterior Caudate	brain
10	chr17:17289000-17290000	Enhancers	Fetal Brain Male	brain
11	chr17:17289000-17290200	Enhancers	Fetal Thymus	thymus
12	chr17:17289000-17291800	Enhancers	Fetal Intestine Small	intestine
13	chr17:17289000-17292000	Enhancers	Fetal Intestine Large	intestine
14	chr17:17289200-17290000	Enhancers	Right Atrium	heart
15	chr17:17289200-17290200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:17289200-17291400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr17:17289200-17292000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr17:17289400-17290000	Enhancers	Fetal Stomach	stomach
19	chr17:17289600-17290200	Weak transcription	Fetal Brain Female	brain
20	chr17:17289600-17291000	Weak transcription	Placenta	Placenta
21	chr17:17289600-17291200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr17:17289600-17291400	Enhancers	Stomach Mucosa	stomach
23	chr17:17289600-17292000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:17289800-17290000	Enhancers	Right Ventricle	heart
25	chr17:17289800-17290600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:17289800-17291000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr17:17289800-17291000	Weak transcription	Left Ventricle	heart
28	chr17:17289800-17291200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:17289800-17291600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:17289800-17292000	Enhancers	HMEC	breast
31	chr17:17289800-17293400	Weak transcription	Dnd41	blood

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