Variant report

Variant	rs2431223
Chromosome Location	chr5:79817527-79817528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79782831..79785059-chr5:79816162..79818275,2	MCF-7	breast:
2	chr5:79816742..79818882-chr5:79821411..79823624,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD34B-3	chr5:79817466-79817535	l_2954_chr5:79813420-79817535_kidney

Variant related genes	Relation type
ENSG00000249042	Chromatin interaction
ENSG00000152380	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1008902	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2431224	1.00[EUR][1000 genomes]
rs2443548	0.96[EUR][1000 genomes]
rs249215	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs249217	0.96[EUR][1000 genomes]
rs32856	0.96[EUR][1000 genomes]
rs375515	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs379561	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs42416	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61602358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs896389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79784800-79819400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:79785000-79822800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:79785200-79817600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:79800000-79825600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:79800600-79825200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:79801400-79825400	Weak transcription	Pancreas	Pancrea
7	chr5:79801600-79818000	Weak transcription	Ovary	ovary
8	chr5:79802200-79820800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:79802600-79820000	Weak transcription	Fetal Stomach	stomach
10	chr5:79805200-79824200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:79806200-79825600	Weak transcription	HSMMtube	muscle
12	chr5:79807400-79825600	Weak transcription	Osteobl	bone
13	chr5:79807600-79819000	Weak transcription	NHDF-Ad	bronchial
14	chr5:79808600-79824400	Weak transcription	Fetal Lung	lung
15	chr5:79810400-79825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:79813000-79821800	Weak transcription	Esophagus	oesophagus
17	chr5:79813200-79818000	Weak transcription	Placenta	Placenta
18	chr5:79813200-79820400	Weak transcription	HSMM	muscle
19	chr5:79813200-79824000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:79813400-79820800	Weak transcription	Adipose Nuclei	Adipose
21	chr5:79816200-79817800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr5:79816200-79820400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:79817200-79824600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:79817400-79819400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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