Variant report

Variant	rs72781478
Chromosome Location	chr5:94791159-94791160
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:94788029..94790284-chr5:94790641..94792181,2	K562	blood:
2	chr5:94791113..94793048-chr5:94801350..94803549,2	K562	blood:
3	chr5:94789443..94791165-chr5:94792736..94794259,2	K562	blood:
4	chr5:94787545..94789529-chr5:94790641..94792240,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17458644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72781496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94777000-94798600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:94780400-94810800	Weak transcription	Pancreas	Pancrea
3	chr5:94782000-94810200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:94782600-94800000	Weak transcription	HMEC	breast
5	chr5:94783200-94796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:94783400-94795000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:94783400-94795800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:94783400-94798600	Weak transcription	Gastric	stomach
9	chr5:94783400-94798600	Weak transcription	Left Ventricle	heart
10	chr5:94783600-94797200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:94783600-94798400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:94785000-94798600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:94785000-94798600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:94785200-94796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:94785200-94796000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:94785200-94796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:94785600-94795800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:94788400-94811200	Weak transcription	Small Intestine	intestine
19	chr5:94788600-94798600	Weak transcription	Lung	lung
20	chr5:94788800-94822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:94789000-94798600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:94789600-94798400	Weak transcription	HSMMtube	muscle
23	chr5:94789800-94795000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:94790000-94798600	Weak transcription	Aorta	Aorta
25	chr5:94790400-94798400	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:94790600-94810800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:94791000-94798600	Weak transcription	NH-A	brain

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