Variant report

Variant	rs142299438
Chromosome Location	chr5:178541431-178541432
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	chr5:178355351..178357900-chr5:178539539..178541563,2	K562	blood:
2	chr3:64008784..64009514-chr5:178540831..178541760,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163636	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1031829	chr5:178442633-178658706	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv482750	chr5:178482653-178663586	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1026790	chr5:178511268-178687428	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv482352	chr5:178525060-178697496	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv883222	chr5:178540975-178595870	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178527800-178559800	Weak transcription	HSMM	muscle
2	chr5:178538000-178544000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:178538000-178544400	ZNF genes & repeats	Liver	Liver
4	chr5:178538000-178550000	Strong transcription	Osteobl	bone
5	chr5:178538000-178560400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:178538200-178564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:178538400-178542800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:178538400-178544000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr5:178538600-178542800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:178538600-178543600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:178539000-178541600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
12	chr5:178539000-178543000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:178539400-178544400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr5:178539400-178545600	ZNF genes & repeats	Fetal Stomach	stomach
15	chr5:178539600-178542400	ZNF genes & repeats	Spleen	Spleen
16	chr5:178539800-178542800	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr5:178540000-178541800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
18	chr5:178540200-178542600	Strong transcription	HSMMtube	muscle
19	chr5:178540200-178543400	ZNF genes & repeats	Ovary	ovary
20	chr5:178540200-178543600	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr5:178540200-178543600	ZNF genes & repeats	Fetal Lung	lung
22	chr5:178540400-178541600	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr5:178540400-178544000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:178540600-178542000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:178540600-178543800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr5:178540800-178541600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr5:178540800-178541600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
28	chr5:178541000-178541600	ZNF genes & repeats	Aorta	Aorta
29	chr5:178541000-178547600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:178541400-178542200	ZNF genes & repeats	Gastric	stomach
31	chr5:178541400-178547600	Weak transcription	NHLF	lung

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