Variant report

Variant	rs72748894
Chromosome Location	chr5:43129004-43129005
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43127832..43129519-chr5:43482925..43484935,2	K562	blood:
2	chr5:43118961..43124216-chr5:43126476..43129492,5	MCF-7	breast:
3	chr5:43126484..43129150-chr5:43135547..43138439,2	K562	blood:
4	chr5:43064780..43067998-chr5:43126441..43129166,3	K562	blood:
5	chr5:43127309..43129273-chr5:43143487..43145266,2	K562	blood:
6	chr5:43128367..43129950-chr5:43132099..43134344,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114947.1.1-7	chr5:43128882-43129417	ucscGeneNc_uc010ivk_1

No data

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10050724	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745619	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11748652	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12110174	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12514198	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12514283	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522830	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12522938	1.00[ASN][1000 genomes]
rs17303015	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1845485	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35186274	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55714804	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55735646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740753	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55780226	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55967719	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56003146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56081223	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871615	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72748871	1.00[ASN][1000 genomes]
rs72750768	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752504	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752507	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752511	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43129200	Weak transcription	Gastric	stomach
2	chr5:43122600-43131200	Weak transcription	Esophagus	oesophagus
3	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
4	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
7	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
9	chr5:43123000-43132000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:43123400-43129600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr5:43123600-43130000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr5:43123800-43129400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr5:43123800-43129600	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr5:43123800-43132000	Strong transcription	Fetal Muscle Leg	muscle
15	chr5:43123800-43144800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:43124000-43129800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:43124000-43129800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:43124000-43129800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:43124000-43130400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr5:43124000-43130600	Strong transcription	HSMM	muscle
21	chr5:43124000-43130800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:43124000-43134600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:43124000-43142400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
25	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
26	chr5:43124200-43129800	Strong transcription	Placenta	Placenta
27	chr5:43124200-43130000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:43124200-43133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:43124200-43137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:43124200-43145000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:43124200-43147200	Strong transcription	Fetal Thymus	thymus
32	chr5:43124400-43130000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:43124400-43130000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:43124400-43130200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr5:43124400-43130600	Strong transcription	Liver	Liver
36	chr5:43124400-43131600	Strong transcription	Fetal Stomach	stomach
37	chr5:43124400-43133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:43124400-43133200	Weak transcription	Stomach Mucosa	stomach
39	chr5:43124400-43134600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr5:43124400-43134600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:43124400-43138200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:43124400-43147400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:43124400-43154600	Weak transcription	Fetal Heart	heart
44	chr5:43124400-43154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:43124600-43130600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr5:43124600-43133600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:43124600-43134000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr5:43124600-43137400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:43124600-43138600	Strong transcription	Fetal Intestine Large	intestine
50	chr5:43124800-43130200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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