Variant report

Variant	rs72954012
Chromosome Location	chr3:112779015-112779016
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
rs72954018	1.00[AFR][1000 genomes]
rs72954020	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:35 , 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	chr3:112770600-112780600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:112770600-112780800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:112770600-112781000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:112770600-112781800	Weak transcription	Left Ventricle	heart
7	chr3:112770600-112782000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr3:112770600-112783800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:112770600-112784200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:112770600-112784400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:112770800-112781400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:112770800-112782200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr3:112770800-112783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:112770800-112787400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:112771000-112783800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:112771000-112784200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:112771000-112798600	Weak transcription	Psoas Muscle	Psoas
18	chr3:112771200-112788800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:112771400-112781800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:112771400-112782600	Weak transcription	Fetal Stomach	stomach
21	chr3:112771600-112782600	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:112771600-112783800	Weak transcription	Brain Anterior Caudate	brain
23	chr3:112771800-112781600	Weak transcription	Ovary	ovary
24	chr3:112772200-112779200	Weak transcription	Primary T cells from cord blood	blood
25	chr3:112774600-112782800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:112775000-112780600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:112775600-112782200	Weak transcription	Fetal Lung	lung
28	chr3:112776400-112781400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr3:112776600-112789000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:112776800-112782400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr3:112777000-112782000	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:112777400-112782200	Weak transcription	Fetal Brain Female	brain
33	chr3:112777400-112782400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:112777400-112783800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:112778000-112782200	Weak transcription	Fetal Brain Male	brain

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