Variant report

Variant	rs41310835
Chromosome Location	chr20:52573933-52573934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52572107..52575056-chr20:52680520..52683373,2	MCF-7	breast:
2	chr17:57921051..57923728-chr20:52572026..52574091,2	MCF-7	breast:
3	chr20:52573818..52574952-chr20:52679002..52679930,5	MCF-7	breast:
4	chr20:52573893..52576566-chr20:52684322..52688419,3	MCF-7	breast:
5	chr17:56788307..56790123-chr20:52571601..52574064,2	MCF-7	breast:
6	chr20:52557853..52560053-chr20:52573644..52576413,2	K562	blood:
7	chr17:56706951..56709239-chr20:52571954..52576924,4	MCF-7	breast:
8	chr17:59653156..59653811-chr20:52573593..52574534,2	MCF-7	breast:
9	chr2:197371996..197373539-chr20:52572973..52575210,2	MCF-7	breast:
10	chr20:52572078..52574056-chr20:52577646..52580045,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction
ENSG00000064787	Chromatin interaction
ENSG00000265595	Chromatin interaction

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

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

rs_ID	r²[population]
rs62215572	1.00[AFR][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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
3	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
4	nsv1055549	chr20:52555871-52586281	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52564200-52576400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52566400-52574400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr20:52566400-52644800	Weak transcription	Gastric	stomach
4	chr20:52566600-52576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:52566600-52576600	Weak transcription	Brain Anterior Caudate	brain
6	chr20:52566800-52576400	Weak transcription	Fetal Lung	lung
7	chr20:52567000-52576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:52567000-52578200	Weak transcription	Brain Angular Gyrus	brain
9	chr20:52567000-52580200	Weak transcription	Stomach Mucosa	stomach
10	chr20:52570000-52574200	Weak transcription	Brain Hippocampus Middle	brain
11	chr20:52570200-52574400	Weak transcription	Brain Substantia Nigra	brain
12	chr20:52570200-52591800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr20:52570200-52592400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr20:52570600-52576400	Weak transcription	Fetal Kidney	kidney
15	chr20:52570800-52590800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr20:52572200-52574200	Weak transcription	Fetal Stomach	stomach
17	chr20:52572400-52576200	Weak transcription	HepG2	liver
18	chr20:52572800-52575000	Enhancers	HSMMtube	muscle
19	chr20:52573400-52576200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr20:52573400-52576200	Enhancers	NHDF-Ad	bronchial
21	chr20:52573600-52574600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:52573600-52575200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr20:52573600-52576200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr20:52573800-52574800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr20:52573800-52575000	Enhancers	NH-A	brain
26	chr20:52573800-52575200	Enhancers	Osteobl	bone

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