Variant report

Variant	rs72480248
Chromosome Location	chr1:158969797-158969798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1102013	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1102014	0.96[ASN][1000 genomes]
rs1102015	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1102016	0.81[ASN][1000 genomes]
rs11590737	0.93[ASN][1000 genomes]
rs12239437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1578477	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1614568	0.94[ASN][1000 genomes]
rs1615480	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1623601	0.94[ASN][1000 genomes]
rs1772443	0.94[ASN][1000 genomes]
rs1935068	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1935070	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1935071	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2793856	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2793857	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3754464	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754466	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264051	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56954127	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57218670	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57498847	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58506115	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58805430	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60086314	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60381726	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61254442	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71632651	0.98[ASN][1000 genomes]
rs72480244	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72480246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72480247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs856125	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs856126	0.97[ASN][1000 genomes]
rs856127	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs856131	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs856132	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs856133	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs856134	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs856135	0.81[ASN][1000 genomes]
rs856136	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs856140	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs856141	0.81[ASN][1000 genomes]
rs856142	0.81[ASN][1000 genomes]
rs860635	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002401	chr1:158712627-158972031	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv3176	chr1:158955373-158986568	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv1793882	chr1:158961777-158972490	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548043	chr1:158963127-158972490	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158960800-158975400	Weak transcription	Spleen	Spleen
2	chr1:158968400-158969800	Active TSS	Fetal Kidney	kidney
3	chr1:158968400-158970200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:158968400-158970200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:158968400-158970200	Active TSS	Aorta	Aorta
6	chr1:158968400-158970200	Active TSS	Fetal Muscle Trunk	muscle
7	chr1:158968400-158970200	Active TSS	Psoas Muscle	Psoas
8	chr1:158968400-158970400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:158968400-158970400	Active TSS	Brain Anterior Caudate	brain
10	chr1:158968400-158970600	Active TSS	Brain Angular Gyrus	brain
11	chr1:158968400-158970600	Active TSS	Fetal Lung	lung
12	chr1:158968400-158970800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr1:158968400-158970800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:158968400-158970800	Active TSS	Fetal Brain Female	brain
15	chr1:158968400-158971000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:158968400-158971000	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:158968600-158969800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:158968600-158969800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:158968600-158969800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:158968600-158969800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:158968600-158969800	Active TSS	NHLF	lung
22	chr1:158968600-158970000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:158968600-158970200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr1:158968600-158970200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:158968600-158970200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:158968600-158970200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:158968600-158970200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:158968600-158970200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:158968600-158970200	Active TSS	Brain Substantia Nigra	brain
30	chr1:158968600-158970200	Active TSS	Duodenum Mucosa	Duodenum
31	chr1:158968600-158970200	Active TSS	Fetal Intestine Small	intestine
32	chr1:158968600-158970200	Active TSS	Fetal Thymus	thymus
33	chr1:158968600-158970200	Active TSS	Left Ventricle	heart
34	chr1:158968600-158970200	Active TSS	Placenta Amnion	Placenta Amnion
35	chr1:158968600-158970200	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr1:158968600-158970400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:158968600-158970400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:158968600-158970400	Active TSS	Brain Hippocampus Middle	brain
39	chr1:158968600-158970400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:158968600-158970600	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:158968600-158970600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr1:158968600-158970600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:158968600-158970600	Active TSS	Brain Cingulate Gyrus	brain
44	chr1:158968600-158970600	Active TSS	Fetal Intestine Large	intestine
45	chr1:158968600-158970600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:158968600-158970600	Active TSS	Fetal Stomach	stomach
47	chr1:158968600-158970600	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:158968600-158970600	Flanking Active TSS	HMEC	breast
49	chr1:158968600-158970600	Active TSS	HSMM	muscle
50	chr1:158968600-158970600	Flanking Active TSS	HUVEC	blood vessel

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