Variant report

Variant	rs72954020
Chromosome Location	chr3:112783281-112783282
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	FOXA1	chr3:112783035-112783408	A549	lung:	n/a	chr3:112783171-112783186
2	FOXA1	chr3:112783025-112783357	A549	lung:	n/a	chr3:112783171-112783186
3	NR3C1	chr3:112783101-112783336	A549	lung:	n/a	chr3:112783241-112783255 chr3:112783241-112783255 chr3:112783240-112783256 chr3:112783240-112783256 chr3:112783240-112783256

Variant related genes	Relation type
ENSG00000241219	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58154537	1.00[AFR][1000 genomes]
rs72954012	1.00[AFR][1000 genomes]
rs72954018	1.00[AFR][1000 genomes]
rs72954021	1.00[AFR][1000 genomes]
rs72954025	1.00[AFR][1000 genomes]
rs72954051	1.00[AFR][1000 genomes]
rs72954059	1.00[AFR][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv3951	chr3:112759554-112800236	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112763000-112789200	Weak transcription	HSMMtube	muscle
2	chr3:112770200-112784400	Weak transcription	Primary B cells from cord blood	blood
3	chr3:112770600-112783800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:112770600-112784200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:112770600-112784400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:112770800-112787400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr3:112771000-112783800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:112771000-112784200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:112771000-112798600	Weak transcription	Psoas Muscle	Psoas
10	chr3:112771200-112788800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:112771600-112783800	Weak transcription	Brain Anterior Caudate	brain
12	chr3:112776600-112789000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:112777400-112783800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:112779200-112784400	Strong transcription	Primary T cells from cord blood	blood
15	chr3:112779400-112784400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:112780000-112784000	Weak transcription	Right Ventricle	heart
17	chr3:112780000-112784200	Weak transcription	Gastric	stomach
18	chr3:112780600-112783600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:112781000-112783600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:112781200-112783400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr3:112781600-112783400	Enhancers	Ovary	ovary
22	chr3:112782000-112783600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:112782200-112783400	Enhancers	Fetal Lung	lung
24	chr3:112782200-112783600	Strong transcription	Primary hematopoietic stem cells	blood
25	chr3:112782200-112784000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:112782600-112783400	Enhancers	Colon Smooth Muscle	Colon
27	chr3:112782600-112783400	Enhancers	Fetal Stomach	stomach
28	chr3:112782600-112784000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:112782600-112784200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:112782800-112783400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:112782800-112783400	Enhancers	Placenta	Placenta
32	chr3:112782800-112784200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:112782800-112784400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:112782800-112784400	Weak transcription	Left Ventricle	heart
35	chr3:112782800-112788400	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:112783000-112784200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr3:112783000-112784400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:112783200-112783400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
39	chr3:112783200-112783600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr3:112783200-112784400	Weak transcription	Primary B cells from peripheral blood	blood

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