Variant report

Variant	rs7129685
Chromosome Location	chr11:63702910-63702911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63702093..63703602-chr11:63705720..63707224,2	MCF-7	breast:
2	chr11:63687862..63689839-chr11:63702053..63703674,2	MCF-7	breast:
3	chr11:63613491..63616107-chr11:63702849..63704991,2	MCF-7	breast:
4	chr11:63702010..63703638-chr11:63704056..63706537,2	K562	blood:

Variant related genes	Relation type
ENSG00000110583	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11231644	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11231645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231657	0.95[MKK][hapmap]
rs11231674	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11231696	1.00[MEX][hapmap]
rs12283898	1.00[MEX][hapmap]
rs12285245	1.00[MEX][hapmap]
rs12798491	0.87[LWK][hapmap];0.81[AFR][1000 genomes]
rs2036269	1.00[MEX][hapmap]
rs2622417	1.00[MEX][hapmap]
rs2701549	1.00[MEX][hapmap]
rs320115	1.00[MEX][hapmap]
rs60668438	0.84[AFR][1000 genomes]
rs7342201	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73494171	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
9	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7129685	MS4A12	cis	parietal	SCAN
rs7129685	SLC22A12	cis	parietal	SCAN
rs7129685	TRMT112	cis	cerebellum	SCAN
rs7129685	GPR137	cis	parietal	SCAN
rs7129685	MS4A6E	cis	parietal	SCAN
rs7129685	FTH1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63697000-63705600	Weak transcription	Right Atrium	heart
2	chr11:63698800-63705600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:63698800-63705600	Weak transcription	Esophagus	oesophagus
4	chr11:63699000-63705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:63699600-63705400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63699600-63705600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:63699800-63705200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:63699800-63705600	Weak transcription	Fetal Lung	lung
9	chr11:63699800-63705600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:63700000-63705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:63701000-63703000	Enhancers	Placenta	Placenta
12	chr11:63701200-63703200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:63701200-63705200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:63701400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:63701400-63705600	Weak transcription	Left Ventricle	heart
16	chr11:63702200-63703200	Enhancers	HepG2	liver
17	chr11:63702200-63705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:63702200-63705600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:63702200-63705600	Weak transcription	Adipose Nuclei	Adipose
20	chr11:63702400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:63702400-63705600	Weak transcription	Osteobl	bone
22	chr11:63702600-63705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:63702800-63703600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:63702800-63705200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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