Variant report

Variant	rs554393643
Chromosome Location	chr3:143021096-143021097
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	chr3:143015059..143017417-chr3:143020169..143021690,2	MCF-7	breast:
2	chr3:143018946..143021692-chr3:143026388..143029368,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143006000-143021400	Weak transcription	Esophagus	oesophagus
2	chr3:143008000-143025000	Weak transcription	Gastric	stomach
3	chr3:143015200-143039600	Weak transcription	Brain Substantia Nigra	brain
4	chr3:143017000-143022400	Enhancers	Fetal Thymus	thymus
5	chr3:143017000-143022600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:143017200-143021200	Enhancers	Primary T cells from cord blood	blood
7	chr3:143018200-143026400	Weak transcription	GM12878-XiMat	blood
8	chr3:143018400-143021400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:143018400-143021600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:143018400-143039400	Weak transcription	Primary B cells from cord blood	blood
11	chr3:143019000-143022600	Enhancers	Dnd41	blood
12	chr3:143019200-143021400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:143019200-143021600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:143019600-143026600	Enhancers	Fetal Lung	lung
15	chr3:143020200-143021600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:143020200-143023200	Enhancers	K562	blood
17	chr3:143020400-143021400	Enhancers	HUVEC	blood vessel
18	chr3:143020400-143022600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:143020400-143022800	Enhancers	Spleen	Spleen
20	chr3:143020600-143022600	Enhancers	NHDF-Ad	bronchial
21	chr3:143020800-143021400	Enhancers	HSMM	muscle
22	chr3:143020800-143021600	Enhancers	Lung	lung
23	chr3:143020800-143022000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:143020800-143022600	Enhancers	Placenta	Placenta
25	chr3:143020800-143022800	Enhancers	Fetal Muscle Leg	muscle
26	chr3:143020800-143023200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:143020800-143023400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:143021000-143021200	Enhancers	HSMMtube	muscle
29	chr3:143021000-143021400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:143021000-143021400	Enhancers	Osteobl	bone
31	chr3:143021000-143022000	Enhancers	NHLF	lung
32	chr3:143021000-143022200	Enhancers	HMEC	breast
33	chr3:143021000-143022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:143021000-143026600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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