Variant report

Variant	rs665124
Chromosome Location	chr11:102365297-102365298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102216583..102219205-chr11:102364748..102366652,2	MCF-7	breast:
2	chr11:102358831..102361253-chr11:102363171..102365874,2	MCF-7	breast:
3	chr11:102217635..102219637-chr11:102364748..102366957,2	K562	blood:
4	chr11:102323470..102325107-chr11:102364367..102365927,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110330	Chromatin interaction
ENSG00000152558	Chromatin interaction
ENSG00000255337	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10750642	0.92[ASN][1000 genomes]
rs10750643	0.92[ASN][1000 genomes]
rs10791576	0.92[ASN][1000 genomes]
rs1941510	0.92[ASN][1000 genomes]
rs2186992	0.96[ASN][1000 genomes]
rs2850437	0.94[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs3990027	0.92[ASN][1000 genomes]
rs4754045	0.92[ASN][1000 genomes]
rs488324	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs514188	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs541877	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs555650	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs562383	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs599384	0.94[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs603608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs634743	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs634814	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs636898	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs650423	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs651319	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs653586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6590964	0.92[ASN][1000 genomes]
rs6590966	0.96[ASN][1000 genomes]
rs6590967	0.99[ASN][1000 genomes]
rs659789	0.94[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs668660	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs938598	0.92[ASN][1000 genomes]
rs938600	0.95[CHB][hapmap];0.91[JPT][hapmap];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	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv469990	chr11:102335609-102413943	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv556150	chr11:102335609-102415859	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv468854	chr11:102336617-102413943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv556151	chr11:102336617-102413943	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs665124	TMEM123	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102358400-102365600	Weak transcription	Primary T cells from cord blood	blood
2	chr11:102363600-102366400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:102364200-102365800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:102364200-102366800	Enhancers	Liver	Liver
5	chr11:102364400-102366200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:102364400-102366200	Enhancers	HMEC	breast
7	chr11:102364400-102366400	Enhancers	NHEK	skin
8	chr11:102364400-102366800	Enhancers	Hela-S3	cervix
9	chr11:102364600-102365600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:102364600-102365600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:102364600-102366200	Enhancers	HUVEC	blood vessel
12	chr11:102364800-102365400	Active TSS	A549	lung
13	chr11:102364800-102365600	Weak transcription	Stomach Mucosa	stomach
14	chr11:102364800-102366600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:102365000-102365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:102365000-102365400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:102365000-102366200	Enhancers	HSMM	muscle
18	chr11:102365000-102366400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr11:102365000-102366600	Enhancers	Fetal Intestine Small	intestine
20	chr11:102365000-102366600	Enhancers	NH-A	brain
21	chr11:102365000-102366800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:102365000-102366800	Flanking Active TSS	HepG2	liver
23	chr11:102365200-102365600	Enhancers	GM12878-XiMat	blood
24	chr11:102365200-102366400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:102365200-102366400	Weak transcription	Fetal Intestine Large	intestine
26	chr11:102365200-102366800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:102365200-102366800	Enhancers	Osteobl	bone

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