Variant report

Variant	rs653586
Chromosome Location	chr11:102365622-102365623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:102218395..102219061-chr11:102365611..102366317,2	MCF-7	breast:
2	chr11:102216583..102219205-chr11:102364748..102366652,2	MCF-7	breast:
3	chr11:102358831..102361253-chr11:102363171..102365874,2	MCF-7	breast:
4	chr11:102217635..102219637-chr11:102364748..102366957,2	K562	blood:
5	chr11:102237489..102238797-chr11:102365471..102366746,6	K562	blood:
6	chr11:102258611..102261367-chr11:102365540..102367730,3	MCF-7	breast:
7	chr11:102323470..102325107-chr11:102364367..102365927,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255337	Chromatin interaction
ENSG00000110330	Chromatin interaction
ENSG00000152558	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	0.90[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	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	0.84[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]
rs6590964	0.92[ASN][1000 genomes]
rs6590966	0.96[ASN][1000 genomes]
rs6590967	0.99[ASN][1000 genomes]
rs659789	0.89[ASN][1000 genomes]
rs665124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668660	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs938598	0.92[ASN][1000 genomes]
rs938600	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
rs653586	TMEM123	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102363600-102366400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:102364200-102365800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:102364200-102366800	Enhancers	Liver	Liver
4	chr11:102364400-102366200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:102364400-102366200	Enhancers	HMEC	breast
6	chr11:102364400-102366400	Enhancers	NHEK	skin
7	chr11:102364400-102366800	Enhancers	Hela-S3	cervix
8	chr11:102364600-102366200	Enhancers	HUVEC	blood vessel
9	chr11:102364800-102366600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:102365000-102366200	Enhancers	HSMM	muscle
11	chr11:102365000-102366400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr11:102365000-102366600	Enhancers	Fetal Intestine Small	intestine
13	chr11:102365000-102366600	Enhancers	NH-A	brain
14	chr11:102365000-102366800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:102365000-102366800	Flanking Active TSS	HepG2	liver
16	chr11:102365200-102366400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:102365200-102366400	Weak transcription	Fetal Intestine Large	intestine
18	chr11:102365200-102366800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:102365200-102366800	Enhancers	Osteobl	bone
20	chr11:102365400-102366000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:102365400-102366800	Enhancers	Duodenum Mucosa	Duodenum
22	chr11:102365400-102366800	Flanking Active TSS	A549	lung
23	chr11:102365600-102366000	Enhancers	HSMMtube	muscle
24	chr11:102365600-102366200	Enhancers	Primary T cells from cord blood	blood
25	chr11:102365600-102366200	Flanking Active TSS	GM12878-XiMat	blood
26	chr11:102365600-102366600	Enhancers	Brain Germinal Matrix	brain
27	chr11:102365600-102366800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:102365600-102366800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:102365600-102366800	Enhancers	Colon Smooth Muscle	Colon
30	chr11:102365600-102367000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:102365600-102367200	Enhancers	Stomach Mucosa	stomach

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