Variant report

Variant	rs7428843
Chromosome Location	chr3:143023597-143023598
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	chr3:143022335..143023905-chr3:143024400..143026913,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9842051	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv520125	chr3:143020870-143029022	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 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	chr3:143008000-143025000	Weak transcription	Gastric	stomach
2	chr3:143015200-143039600	Weak transcription	Brain Substantia Nigra	brain
3	chr3:143018200-143026400	Weak transcription	GM12878-XiMat	blood
4	chr3:143018400-143039400	Weak transcription	Primary B cells from cord blood	blood
5	chr3:143019600-143026600	Enhancers	Fetal Lung	lung
6	chr3:143021000-143026600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:143021200-143029000	Weak transcription	Primary T cells from cord blood	blood
8	chr3:143021400-143024200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:143021600-143026400	Weak transcription	Lung	lung
10	chr3:143021800-143029000	Weak transcription	Fetal Kidney	kidney
11	chr3:143022000-143023600	Enhancers	HUVEC	blood vessel
12	chr3:143022000-143023800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:143022000-143023800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:143022000-143024200	Weak transcription	Esophagus	oesophagus
15	chr3:143022000-143025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:143022000-143025200	Weak transcription	HSMM	muscle
17	chr3:143022000-143025600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:143022000-143026200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:143022000-143026400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:143022000-143026400	Weak transcription	NH-A	brain
21	chr3:143022000-143032400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:143022200-143025000	Weak transcription	HMEC	breast
23	chr3:143022200-143025000	Weak transcription	NHEK	skin
24	chr3:143022200-143026400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:143022400-143024000	Weak transcription	Right Atrium	heart
26	chr3:143022400-143025000	Weak transcription	Right Ventricle	heart
27	chr3:143022400-143026400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:143022400-143032200	Weak transcription	Fetal Thymus	thymus
29	chr3:143022400-143048200	Weak transcription	Psoas Muscle	Psoas
30	chr3:143022600-143025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:143022600-143025000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:143022600-143025400	Weak transcription	NHDF-Ad	bronchial
33	chr3:143022600-143026200	Weak transcription	Adipose Nuclei	Adipose
34	chr3:143022600-143026400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:143022600-143026600	Weak transcription	Dnd41	blood
36	chr3:143022600-143027600	Weak transcription	Placenta	Placenta
37	chr3:143022600-143030000	Weak transcription	HSMMtube	muscle
38	chr3:143022800-143024000	Weak transcription	Spleen	Spleen
39	chr3:143022800-143025000	Weak transcription	Left Ventricle	heart
40	chr3:143022800-143025800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:143022800-143026400	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:143023200-143023800	Weak transcription	K562	blood
43	chr3:143023200-143025000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:143023400-143024200	Weak transcription	Stomach Mucosa	stomach
45	chr3:143023400-143024600	Weak transcription	Muscle Satellite Cultured Cells	--

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