Variant report

Variant	rs73421520
Chromosome Location	chr11:10924433-10924434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:10924103-10924697	PBDE	blood:	n/a	chr11:10924502-10924509
2	GATA3	chr11:10924323-10924618	T-47D	breast:	n/a	chr11:10924502-10924509

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:10829036..10831741-chr11:10924144..10926036,3	MCF-7	breast:
2	chr11:10826076..10833422-chr11:10919439..10926200,37	K562	blood:
3	chr11:10829485..10831734-chr11:10923928..10926536,4	MCF-7	breast:
4	chr11:10922771..10926245-chr11:10928200..10931811,4	K562	blood:
5	chr11:10826424..10832562-chr11:10915178..10926428,37	K562	blood:
6	chr11:10918996..10922447-chr11:10923741..10927030,4	MCF-7	breast:
7	chr11:10875813..10884237-chr11:10918851..10925690,14	K562	blood:
8	chr11:10816613..10818436-chr11:10923808..10925710,2	MCF-7	breast:
9	chr11:10923189..10926169-chr11:10939551..10941946,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250041	TF binding region
ENSG00000247271	Chromatin interaction
ENSG00000246308	Chromatin interaction
ENSG00000236287	Chromatin interaction
ENSG00000110321	Chromatin interaction
ENSG00000250041	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11042942	1.00[EUR][1000 genomes]
rs11822861	1.00[EUR][1000 genomes]
rs11823290	1.00[EUR][1000 genomes]
rs2232912	1.00[EUR][1000 genomes]
rs58366863	1.00[EUR][1000 genomes]
rs58432384	1.00[EUR][1000 genomes]
rs59239356	1.00[EUR][1000 genomes]
rs59882147	1.00[EUR][1000 genomes]
rs60370256	1.00[EUR][1000 genomes]
rs61997166	1.00[EUR][1000 genomes]
rs73419666	1.00[EUR][1000 genomes]
rs73419669	1.00[EUR][1000 genomes]
rs73419674	1.00[EUR][1000 genomes]
rs73419676	1.00[EUR][1000 genomes]
rs73419678	1.00[EUR][1000 genomes]
rs73419688	1.00[EUR][1000 genomes]
rs73419698	1.00[EUR][1000 genomes]
rs73419699	1.00[EUR][1000 genomes]
rs73419702	1.00[EUR][1000 genomes]
rs73421505	1.00[EUR][1000 genomes]
rs73421506	1.00[EUR][1000 genomes]
rs73421514	1.00[EUR][1000 genomes]
rs73421517	1.00[EUR][1000 genomes]
rs73421534	1.00[EUR][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	nsv1040606	chr11:10763753-10995698	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	nsv1038686	chr11:10903482-11269086	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10919000-10925400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:10921400-10930600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:10921400-10933800	Weak transcription	Right Ventricle	heart
4	chr11:10922400-10928200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:10922600-10928200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:10922600-10929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:10922600-10929600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:10922600-10929600	Weak transcription	Aorta	Aorta
9	chr11:10922600-10930600	Weak transcription	Right Atrium	heart
10	chr11:10922600-10934800	Weak transcription	Lung	lung
11	chr11:10922800-10924600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:10922800-10924600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:10922800-10924600	Enhancers	HMEC	breast
14	chr11:10922800-10924600	Enhancers	NHDF-Ad	bronchial
15	chr11:10922800-10924600	Enhancers	NHLF	lung
16	chr11:10922800-10924800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:10922800-10924800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:10922800-10924800	Enhancers	Hela-S3	cervix
19	chr11:10922800-10925000	Enhancers	NHEK	skin
20	chr11:10922800-10925400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:10922800-10927800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:10922800-10927800	Weak transcription	A549	lung
23	chr11:10922800-10928000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:10922800-10928000	Weak transcription	Left Ventricle	heart
25	chr11:10922800-10928000	Weak transcription	HSMMtube	muscle
26	chr11:10922800-10928000	Weak transcription	HUVEC	blood vessel
27	chr11:10922800-10928400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:10923200-10928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:10923200-10928000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:10923200-10928000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:10923200-10928000	Weak transcription	NH-A	brain
32	chr11:10923400-10924600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:10923400-10925200	Enhancers	Colon Smooth Muscle	Colon
34	chr11:10923600-10928000	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:10923600-10928000	Weak transcription	Placenta	Placenta
36	chr11:10923800-10924600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:10923800-10924800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:10924000-10924600	Flanking Active TSS	K562	blood
39	chr11:10924200-10924600	Enhancers	Stomach Mucosa	stomach
40	chr11:10924200-10928000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:10924200-10928200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:10924200-10928200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:10924400-10924600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:10924400-10925200	Enhancers	Fetal Muscle Trunk	muscle
45	chr11:10924400-10928000	Weak transcription	Muscle Satellite Cultured Cells	--

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