Variant report

Variant	rs565117967
Chromosome Location	chr3:43045977-43045978
allele	-/CTCTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43042013..43044443-chr3:43044465..43047233,2	K562	blood:
2	chr3:43044130..43046332-chr3:43052045..43054420,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv460523	chr3:43025986-43063406	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv590150	chr3:43025986-43063406	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv432417	chr3:43045796-43098296	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43043200-43047000	Weak transcription	Fetal Intestine Large	intestine
2	chr3:43043400-43046800	Weak transcription	Brain Substantia Nigra	brain
3	chr3:43043400-43047000	Weak transcription	Brain Anterior Caudate	brain
4	chr3:43043600-43046200	Weak transcription	NHLF	lung
5	chr3:43043600-43054400	Weak transcription	Placenta	Placenta
6	chr3:43043800-43054600	Weak transcription	Fetal Kidney	kidney
7	chr3:43044000-43047000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:43044200-43046000	Weak transcription	Osteobl	bone
9	chr3:43044200-43046400	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:43044200-43049800	Weak transcription	Ovary	ovary
11	chr3:43044600-43047400	Weak transcription	Liver	Liver
12	chr3:43044600-43052200	Weak transcription	Fetal Stomach	stomach
13	chr3:43044800-43046000	Enhancers	Fetal Thymus	thymus
14	chr3:43044800-43051800	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:43045200-43046600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:43045600-43046600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:43045600-43046600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:43045600-43046600	Enhancers	NHEK	skin
19	chr3:43045600-43047200	Enhancers	HMEC	breast
20	chr3:43045800-43046000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr3:43045800-43046600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:43045800-43046800	Enhancers	Stomach Smooth Muscle	stomach
23	chr3:43045800-43047000	Weak transcription	Thymus	Thymus

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