Variant report

Variant	rs34492504
Chromosome Location	chr15:49760346-49760347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49759384..49762245-chr15:49912531..49914153,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104047	Chromatin interaction
ENSG00000166262	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12324090	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12592126	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12592839	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12594926	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12900911	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12908295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12909835	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12913210	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12913379	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12913571	0.87[ASN][1000 genomes]
rs2007443	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34212162	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34291739	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34461215	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34605270	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34737835	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34918968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35091054	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35145376	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35240887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35543719	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35683135	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35686890	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35799750	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36048625	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36106985	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4407014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55662230	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55691379	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56053668	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67031905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71467682	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71467683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7175275	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72729117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8025420	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8029303	0.88[ASN][1000 genomes]
rs8030269	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9972602	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv9263	chr15:49734435-49809465	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv974574	chr15:49752716-49764974	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1043119	chr15:49760222-49844366	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49752400-49764000	Weak transcription	HSMM	muscle
2	chr15:49755000-49764000	Weak transcription	Fetal Lung	lung
3	chr15:49755400-49764200	Weak transcription	Fetal Heart	heart
4	chr15:49757800-49760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:49758000-49761000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:49758200-49761200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:49758200-49761200	Enhancers	Colon Smooth Muscle	Colon
8	chr15:49758200-49761600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:49758400-49761200	Enhancers	Hela-S3	cervix
10	chr15:49759400-49760400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:49759400-49760600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:49759400-49761200	Enhancers	NHLF	lung
13	chr15:49759600-49760600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:49759600-49761000	Enhancers	Adipose Nuclei	Adipose
15	chr15:49759600-49761200	Enhancers	Liver	Liver
16	chr15:49759600-49762800	Weak transcription	GM12878-XiMat	blood
17	chr15:49759600-49763800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:49759800-49760600	Enhancers	Osteobl	bone
19	chr15:49759800-49761200	Enhancers	Rectal Smooth Muscle	rectum
20	chr15:49760000-49760600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:49760200-49760400	Enhancers	NHDF-Ad	bronchial
22	chr15:49760200-49760600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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