Variant report

Variant	rs73751045
Chromosome Location	chr5:43163587-43163588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43162871..43165014-chr5:43168849..43170795,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10045186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10045460	0.94[EUR][1000 genomes]
rs10050482	0.82[AFR][1000 genomes]
rs10056788	0.88[EUR][1000 genomes]
rs10057386	0.84[AFR][1000 genomes]
rs10066481	0.88[EUR][1000 genomes]
rs10473304	0.88[EUR][1000 genomes]
rs10473305	0.88[EUR][1000 genomes]
rs10512819	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12697443	0.84[AMR][1000 genomes]
rs13182652	0.81[AFR][1000 genomes]
rs13356344	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16873170	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28394528	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28600138	0.94[EUR][1000 genomes]
rs28697178	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4421113	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55799546	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58488720	0.88[EUR][1000 genomes]
rs6867229	0.82[EUR][1000 genomes]
rs6868632	0.88[EUR][1000 genomes]
rs6885598	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887169	0.94[EUR][1000 genomes]
rs72752582	0.94[EUR][1000 genomes]
rs72752601	0.88[EUR][1000 genomes]
rs73751047	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7701546	0.94[EUR][1000 genomes]
rs7709926	0.94[EUR][1000 genomes]
rs9292866	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
2	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
3	chr5:43127600-43178000	Strong transcription	Dnd41	blood
4	chr5:43143400-43178200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:43148400-43169800	Strong transcription	Hela-S3	cervix
6	chr5:43150600-43167400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:43155200-43177200	Weak transcription	Fetal Heart	heart
8	chr5:43155600-43163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:43155800-43176600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:43156000-43178200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:43156200-43174600	Weak transcription	Right Ventricle	heart
12	chr5:43156600-43191200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:43156800-43163600	Weak transcription	Brain Angular Gyrus	brain
14	chr5:43156800-43164000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:43156800-43174200	Weak transcription	Gastric	stomach
16	chr5:43156800-43177600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:43157000-43164000	Weak transcription	Psoas Muscle	Psoas
18	chr5:43157000-43173400	Weak transcription	Brain Substantia Nigra	brain
19	chr5:43157000-43178400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:43157200-43163600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:43158800-43168400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:43159000-43165400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:43159000-43166000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:43159000-43166000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:43160000-43163800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:43160000-43164600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:43160400-43163800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:43160600-43166400	Strong transcription	Placenta	Placenta
29	chr5:43160600-43166600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:43160800-43170000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:43161000-43163800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:43161000-43164400	Strong transcription	Fetal Muscle Leg	muscle
33	chr5:43161000-43164800	Strong transcription	Fetal Lung	lung
34	chr5:43161000-43165400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:43161000-43165400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:43161000-43168600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr5:43161000-43170600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:43161200-43165800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:43161200-43168600	Strong transcription	Liver	Liver
40	chr5:43161200-43169000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:43161200-43169600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:43161400-43163800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:43161400-43164400	Strong transcription	Left Ventricle	heart
44	chr5:43161400-43164400	Strong transcription	Osteobl	bone
45	chr5:43161400-43165000	Strong transcription	Colon Smooth Muscle	Colon
46	chr5:43161400-43165200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr5:43161400-43165600	Strong transcription	Fetal Stomach	stomach
48	chr5:43161400-43166200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr5:43161400-43166200	Strong transcription	HMEC	breast
50	chr5:43161400-43166400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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