Variant report

Variant	rs73503585
Chromosome Location	chr11:77726979-77726980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77718858..77720389-chr11:77726861..77728591,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THRSP-2	chr11:77726761-77727071	ENSG00000254829.1

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17136094	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3824865	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56360479	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7118818	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72941392	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72943018	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72943021	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers 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
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv516638	chr11:77724674-77763789	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73503585	ALG8	cis	Esophagus Mucosa	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77711600-77727000	Weak transcription	Pancreas	Pancrea
2	chr11:77719600-77733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:77722200-77727000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:77722200-77727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:77722400-77727800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:77722400-77733400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:77722800-77727000	Weak transcription	HepG2	liver
8	chr11:77724200-77730600	Weak transcription	Stomach Mucosa	stomach
9	chr11:77724400-77733400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:77724800-77727000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:77724800-77727800	Weak transcription	Lung	lung
12	chr11:77724800-77731000	Weak transcription	Fetal Lung	lung
13	chr11:77725000-77727000	Weak transcription	Gastric	stomach
14	chr11:77725000-77731000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:77725200-77727200	Weak transcription	Fetal Brain Female	brain
16	chr11:77725400-77727200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:77725400-77727200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:77725400-77727200	Weak transcription	HMEC	breast
19	chr11:77725400-77727600	Weak transcription	Fetal Stomach	stomach
20	chr11:77725400-77733400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:77725400-77733400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:77725600-77727200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:77725600-77728000	Enhancers	GM12878-XiMat	blood
24	chr11:77725600-77733200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:77725600-77733800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:77725800-77727600	Weak transcription	Fetal Intestine Small	intestine
27	chr11:77725800-77733600	Weak transcription	Brain Angular Gyrus	brain
28	chr11:77725800-77733600	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:77726000-77727600	Weak transcription	Aorta	Aorta
30	chr11:77726000-77729000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:77726000-77733800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:77726200-77727600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:77726200-77727600	Flanking Active TSS	K562	blood
34	chr11:77726200-77733600	Weak transcription	Ovary	ovary
35	chr11:77726400-77728200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:77726400-77728400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:77726400-77728400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:77726400-77728400	Strong transcription	Placenta	Placenta
39	chr11:77726400-77728600	Strong transcription	Liver	Liver
40	chr11:77726400-77728800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:77726400-77731000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:77726600-77727600	Strong transcription	Fetal Kidney	kidney
43	chr11:77726600-77728000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:77726600-77728000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:77726600-77728400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:77726600-77728400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:77726600-77728400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:77726600-77731000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:77726800-77727000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:77726800-77727600	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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