Variant report

Variant	rs7187653
Chromosome Location	chr16:69562838-69562839
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69561937..69564667-chr16:70285129..70286658,2	MCF-7	breast:
2	chr16:69561206..69567755-chr16:69595684..69602877,15	K562	blood:
3	chr16:69561256..69567897-chr16:69597498..69602280,7	MCF-7	breast:
4	chr16:69562466..69565005-chr16:69568063..69569909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223109	Chromatin interaction
ENSG00000223496	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10454066	1.00[CEU][hapmap]
rs10500551	1.00[CEU][hapmap]
rs10852457	0.81[EUR][1000 genomes]
rs10852458	0.94[CEU][hapmap]
rs11075728	1.00[CEU][hapmap]
rs11639947	1.00[CEU][hapmap]
rs11641233	1.00[CEU][hapmap]
rs11642030	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12232410	0.94[CEU][hapmap]
rs12595869	1.00[CEU][hapmap]
rs12596731	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12596823	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs12597243	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12599648	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1437135	1.00[CEU][hapmap]
rs16958970	1.00[CEU][hapmap]
rs16959025	1.00[CEU][hapmap]
rs1800566	1.00[CEU][hapmap]
rs2161631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2361838	1.00[CEU][hapmap]
rs3169315	1.00[CEU][hapmap]
rs3743673	0.94[CEU][hapmap]
rs56256040	0.94[EUR][1000 genomes]
rs60099379	0.87[EUR][1000 genomes]
rs7194753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7196943	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7197614	0.81[ASN][1000 genomes]
rs7198242	1.00[CEU][hapmap]
rs7200935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72799376	0.87[ASN][1000 genomes]
rs8045705	0.87[EUR][1000 genomes]
rs8046314	0.94[CEU][hapmap]
rs9788837	1.00[CEU][hapmap]
rs9921045	1.00[CEU][hapmap]
rs9929720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv906821	chr16:69509506-69576894	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7187653	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69548200-69563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:69549600-69563200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:69552400-69563200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:69555800-69563200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:69555800-69563600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:69556200-69563000	Weak transcription	NHEK	skin
7	chr16:69556200-69563200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:69556200-69563600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:69556800-69563200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:69558600-69563600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr16:69561000-69564400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:69561200-69563200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:69561200-69564400	Weak transcription	Spleen	Spleen
14	chr16:69561400-69563000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:69561400-69563200	Weak transcription	HepG2	liver
16	chr16:69561400-69564000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:69561600-69563200	Weak transcription	HSMM	muscle
18	chr16:69561600-69563600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:69562200-69563200	Weak transcription	NHDF-Ad	bronchial
20	chr16:69562400-69563200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:69562400-69565800	Enhancers	Placenta	Placenta
22	chr16:69562600-69563200	Enhancers	A549	lung
23	chr16:69562600-69563600	Enhancers	Hela-S3	cervix
24	chr16:69562600-69564000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr16:69562600-69564400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:69562600-69564400	Enhancers	HSMMtube	muscle

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