Variant report

Variant	rs55853214
Chromosome Location	chr15:50459149-50459150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50454057..50460168-chr15:50645536..50649910,8	MCF-7	breast:
2	chr15:50458754..50460330-chr15:50474409..50476446,2	MCF-7	breast:
3	chr15:50458824..50460746-chr15:50465947..50468257,2	MCF-7	breast:
4	chr15:50458011..50460195-chr15:50646104..50647802,3	MCF-7	breast:
5	chr15:50458627..50460715-chr15:50469369..50472298,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244879	Chromatin interaction
ENSG00000140284	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000104043	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11070756	0.88[ASN][1000 genomes]
rs11070757	0.88[ASN][1000 genomes]
rs11854761	0.89[ASN][1000 genomes]
rs11854881	0.89[ASN][1000 genomes]
rs11858160	0.88[ASN][1000 genomes]
rs12440837	0.85[ASN][1000 genomes]
rs12906623	0.85[ASN][1000 genomes]
rs12912519	0.85[ASN][1000 genomes]
rs17415862	0.89[ASN][1000 genomes]
rs17499726	0.88[ASN][1000 genomes]
rs1896172	0.82[AFR][1000 genomes]
rs34490804	0.89[ASN][1000 genomes]
rs3803371	0.89[ASN][1000 genomes]
rs4499183	0.91[AFR][1000 genomes]
rs55852503	0.89[ASN][1000 genomes]
rs55970302	0.88[ASN][1000 genomes]
rs56083537	0.85[ASN][1000 genomes]
rs56307748	0.80[ASN][1000 genomes]
rs56362755	0.82[AFR][1000 genomes]
rs57335604	0.88[ASN][1000 genomes]
rs57453862	0.82[AFR][1000 genomes]
rs58277329	0.96[ASN][1000 genomes]
rs58282278	0.82[AFR][1000 genomes]
rs59690694	0.89[ASN][1000 genomes]
rs60383354	0.96[ASN][1000 genomes]
rs60387657	0.88[ASN][1000 genomes]
rs72737004	0.80[ASN][1000 genomes]
rs72737014	0.88[ASN][1000 genomes]
rs72737020	0.88[ASN][1000 genomes]
rs72737025	0.88[ASN][1000 genomes]
rs72737026	0.88[ASN][1000 genomes]
rs72737028	0.88[ASN][1000 genomes]
rs72737030	0.88[ASN][1000 genomes]
rs72737033	0.88[ASN][1000 genomes]
rs72737034	0.88[ASN][1000 genomes]
rs72737035	0.88[ASN][1000 genomes]
rs72737040	0.96[ASN][1000 genomes]
rs72737046	0.89[ASN][1000 genomes]
rs72737047	0.89[ASN][1000 genomes]
rs74012182	0.91[AFR][1000 genomes]
rs8033014	0.88[ASN][1000 genomes]
rs8034288	0.82[AFR][1000 genomes]
rs8036098	0.85[ASN][1000 genomes]
rs8037521	0.82[AFR][1000 genomes]
rs8037819	0.90[AFR][1000 genomes]
rs8038224	0.90[AFR][1000 genomes]
rs8039751	0.86[AFR][1000 genomes]
rs8039753	0.89[AFR][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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904209	chr15:50444824-50482133	Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50455200-50459200	Enhancers	HMEC	breast
2	chr15:50455200-50459200	Enhancers	NHEK	skin
3	chr15:50455400-50461400	Enhancers	Liver	Liver
4	chr15:50456200-50459200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr15:50456200-50460400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:50456400-50459400	Enhancers	Osteobl	bone
7	chr15:50456600-50459200	Enhancers	NHDF-Ad	bronchial
8	chr15:50457400-50459200	Enhancers	NH-A	brain
9	chr15:50457600-50459200	Flanking Active TSS	A549	lung
10	chr15:50457600-50459200	Weak transcription	HepG2	liver
11	chr15:50457600-50459800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:50458200-50459200	Enhancers	HUVEC	blood vessel
13	chr15:50458400-50459600	Enhancers	NHLF	lung
14	chr15:50458600-50459200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:50458600-50459200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:50458600-50459200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:50458600-50459200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:50458600-50459200	Flanking Active TSS	Hela-S3	cervix
19	chr15:50458600-50459200	Enhancers	HSMMtube	muscle
20	chr15:50458600-50459400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:50458800-50459200	Enhancers	Placenta	Placenta
22	chr15:50458800-50459200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr15:50458800-50460000	Enhancers	Fetal Kidney	kidney
24	chr15:50458800-50461000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:50458800-50461200	Enhancers	Fetal Intestine Large	intestine
26	chr15:50458800-50461600	Enhancers	Fetal Intestine Small	intestine
27	chr15:50459000-50459200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:50459000-50459200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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