Variant report

Variant	rs7221367
Chromosome Location	chr17:16438391-16438392
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16341017..16345160-chr17:16437605..16439937,3	MCF-7	breast:
2	chr17:16340917..16342504-chr17:16437747..16440086,2	MCF-7	breast:
3	chr17:16429098..16431180-chr17:16437173..16439127,3	MCF-7	breast:
4	chr17:16340737..16343623-chr17:16437473..16440346,2	K562	blood:
5	chr17:16437317..16439294-chr17:16465015..16467273,2	K562	blood:
6	chr17:16437964..16442048-chr17:16550999..16555622,7	MCF-7	breast:
7	chr17:16438011..16440240-chr17:16486101..16487896,2	MCF-7	breast:
8	chr17:16433371..16435727-chr17:16436170..16438819,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266651	Chromatin interaction
ENSG00000141040	Chromatin interaction
ENSG00000175061	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10491106	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs16959797	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16959800	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28414896	0.98[EUR][1000 genomes]
rs57502248	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6502509	0.87[YRI][hapmap];0.88[AMR][1000 genomes]
rs6502510	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7211050	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7213263	0.98[EUR][1000 genomes]
rs7214188	0.98[EUR][1000 genomes]
rs7214679	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7217433	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7221221	1.00[CEU][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7224723	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs73982005	0.88[EUR][1000 genomes]
rs8066499	0.88[EUR][1000 genomes]
rs8066627	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8077233	0.98[EUR][1000 genomes]
rs9889318	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9892027	0.90[EUR][1000 genomes]
rs9893954	0.88[EUR][1000 genomes]
rs9904252	0.98[EUR][1000 genomes]
rs9911849	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
9	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16433800-16438400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr17:16434600-16438600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:16434600-16438600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:16437600-16438400	Enhancers	HSMM	muscle
5	chr17:16437600-16438600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:16438200-16438400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr17:16438200-16438400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:16438200-16438400	Enhancers	Liver	Liver
9	chr17:16438200-16438400	Enhancers	Brain Anterior Caudate	brain
10	chr17:16438200-16438400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr17:16438200-16438400	Active TSS	GM12878-XiMat	blood
12	chr17:16438200-16438400	Enhancers	Osteobl	bone
13	chr17:16438200-16438600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:16438200-16438600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:16438200-16438800	Flanking Active TSS	A549	lung
16	chr17:16438200-16438800	Flanking Active TSS	Dnd41	blood
17	chr17:16438200-16440200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:16438200-16440400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:16438200-16440400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr17:16438200-16440400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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