Variant report

Variant	rs72989331
Chromosome Location	chr11:74393691-74393692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:74393428-74393827	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74392571..74394133-chr11:74394228..74395891,2	K562	blood:
2	chr11:74389665..74391851-chr11:74392581..74394726,3	MCF-7	breast:
3	chr11:74384288..74386885-chr11:74391965..74393932,2	K562	blood:
4	chr11:74390056..74393770-chr11:74396439..74399617,3	K562	blood:

Variant related genes	Relation type
RN7SKP297	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12805108	1.00[AFR][1000 genomes]
rs67772345	1.00[AFR][1000 genomes]
rs71465927	1.00[AFR][1000 genomes]
rs72979222	1.00[AFR][1000 genomes]
rs72983223	1.00[AFR][1000 genomes]
rs72988507	1.00[AFR][1000 genomes]
rs72988510	1.00[AFR][1000 genomes]
rs72991248	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74381600-74394000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:74384400-74394200	Weak transcription	Lung	lung
3	chr11:74384800-74394200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:74385200-74394400	Weak transcription	NHDF-Ad	bronchial
5	chr11:74390000-74395400	Weak transcription	HSMM	muscle
6	chr11:74390400-74394200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:74390400-74397800	Weak transcription	K562	blood
8	chr11:74391200-74394200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:74392200-74394200	Enhancers	Colon Smooth Muscle	Colon
10	chr11:74392200-74394400	Enhancers	Pancreas	Pancrea
11	chr11:74392200-74395200	Enhancers	Fetal Heart	heart
12	chr11:74392400-74394000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:74392400-74394000	Enhancers	A549	lung
14	chr11:74392400-74394200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:74392400-74394200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:74392400-74394200	Enhancers	Liver	Liver
17	chr11:74392400-74394200	Enhancers	Rectal Smooth Muscle	rectum
18	chr11:74392400-74394200	Enhancers	Right Ventricle	heart
19	chr11:74392400-74394400	Enhancers	Left Ventricle	heart
20	chr11:74392600-74394000	Enhancers	Brain Hippocampus Middle	brain
21	chr11:74392600-74394200	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:74392600-74394200	Enhancers	Psoas Muscle	Psoas
23	chr11:74392800-74394200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:74392800-74394600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr11:74393000-74393800	Enhancers	Fetal Brain Female	brain
26	chr11:74393000-74394000	Enhancers	Brain Anterior Caudate	brain
27	chr11:74393000-74394200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:74393000-74394200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:74393000-74394200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:74393000-74394200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:74393000-74394400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr11:74393000-74394600	Bivalent Enhancer	Fetal Stomach	stomach
33	chr11:74393200-74394000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:74393200-74394000	Weak transcription	Right Atrium	heart
35	chr11:74393200-74394200	Weak transcription	Ovary	ovary
36	chr11:74393200-74394200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:74393400-74393800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:74393400-74394200	Enhancers	Brain Angular Gyrus	brain
39	chr11:74393400-74394200	Enhancers	Brain Substantia Nigra	brain
40	chr11:74393600-74393800	Enhancers	NH-A	brain
41	chr11:74393600-74394000	Enhancers	Stomach Smooth Muscle	stomach
42	chr11:74393600-74394200	Enhancers	Osteobl	bone

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