Variant report

Variant	rs28704689
Chromosome Location	chr5:99980427-99980428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:99979051..99981832-chr5:99981912..99985691,4	MCF-7	breast:
2	chr5:99979324..99981672-chr5:99983886..99985398,2	K562	blood:
3	chr5:99978477..99981448-chr5:99989522..99992251,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11958370	1.00[EUR][1000 genomes]
rs2548271	1.00[EUR][1000 genomes]
rs56789558	1.00[EUR][1000 genomes]
rs57051501	1.00[EUR][1000 genomes]
rs57557903	1.00[EUR][1000 genomes]
rs58571109	1.00[EUR][1000 genomes]
rs58972341	1.00[EUR][1000 genomes]
rs59107693	1.00[EUR][1000 genomes]
rs61509083	1.00[EUR][1000 genomes]
rs61550483	1.00[EUR][1000 genomes]
rs6878351	1.00[EUR][1000 genomes]
rs6878887	1.00[EUR][1000 genomes]
rs6879241	1.00[EUR][1000 genomes]
rs73155148	1.00[EUR][1000 genomes]
rs73155161	1.00[EUR][1000 genomes]
rs73155163	1.00[EUR][1000 genomes]
rs73155169	1.00[EUR][1000 genomes]
rs73155170	1.00[EUR][1000 genomes]
rs73159945	1.00[EUR][1000 genomes]
rs73160414	1.00[EUR][1000 genomes]
rs73160421	1.00[EUR][1000 genomes]
rs73160425	1.00[EUR][1000 genomes]
rs73160500	1.00[EUR][1000 genomes]
rs73160501	1.00[EUR][1000 genomes]
rs73162409	1.00[EUR][1000 genomes]
rs73162427	1.00[EUR][1000 genomes]
rs73162447	1.00[EUR][1000 genomes]
rs73163618	1.00[EUR][1000 genomes]
rs73163629	1.00[EUR][1000 genomes]
rs73163634	1.00[EUR][1000 genomes]
rs73163646	1.00[EUR][1000 genomes]
rs73163652	1.00[EUR][1000 genomes]
rs73164236	1.00[EUR][1000 genomes]
rs73164249	1.00[EUR][1000 genomes]
rs73164285	1.00[EUR][1000 genomes]
rs73164288	1.00[EUR][1000 genomes]
rs73164296	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599165	chr5:99469004-100063039	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv882462	chr5:99745767-100060150	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1018395	chr5:99827242-100003207	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
9	nsv882466	chr5:99936090-100029620	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv882467	chr5:99952282-100100157	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv599174	chr5:99959205-100006633	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv882468	chr5:99959205-100029620	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1019974	chr5:99968378-100010033	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99978000-99983000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:99978000-99983200	Weak transcription	Placenta	Placenta
3	chr5:99978400-99983000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:99979400-99983200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:99979600-99983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:99979800-99980600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:99980000-99983000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:99980000-99983200	Weak transcription	HMEC	breast
9	chr5:99980200-99981200	Weak transcription	K562	blood
10	chr5:99980200-99981800	Weak transcription	Fetal Kidney	kidney
11	chr5:99980200-99982800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:99980200-99983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:99980200-99983000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:99980200-99983000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:99980200-99983400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:99980200-99985000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:99980400-99983400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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