Variant report

Variant	rs613246
Chromosome Location	chr15:53730132-53730133
allele	A/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

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:53623501..53624759-chr15:53729879..53730882,11	MCF-7	breast:
2	chr15:53623777..53624548-chr15:53729910..53730734,2	MCF-7	breast:
3	chr15:53623501..53624538-chr15:53729891..53730882,6	MCF-7	breast:
4	chr15:53704517..53705079-chr15:53729947..53730858,2	MCF-7	breast:
5	chr15:53729402..53730935-chr15:53762168..53764681,2	MCF-7	breast:
6	chr15:53729933..53730858-chr15:53774459..53775291,2	MCF-7	breast:
7	chr15:53146650..53147396-chr15:53729996..53730546,2	MCF-7	breast:
8	chr15:53689916..53690914-chr15:53729839..53730806,3	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1189401	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1189403	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1392873	1.00[EUR][1000 genomes]
rs1697452	1.00[EUR][1000 genomes]
rs626801	1.00[EUR][1000 genomes]
rs680255	1.00[ASN][1000 genomes]
rs7182074	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182540	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015667	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833008	chr15:53630471-53780618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv904223	chr15:53665247-54340070	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv904224	chr15:53668018-54210677	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1049319	chr15:53671945-53785267	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1050374	chr15:53674726-53785267	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1052235	chr15:53677524-54618723	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv542388	chr15:53677524-54618723	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53724600-53732000	Enhancers	HepG2	liver
2	chr15:53726600-53732200	Enhancers	Liver	Liver
3	chr15:53728600-53731200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr15:53728800-53730400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:53729200-53739600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:53729800-53730600	Weak transcription	Brain Substantia Nigra	brain
7	chr15:53729800-53731000	Enhancers	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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