Variant report

Variant	rs72767820
Chromosome Location	chr5:68516338-68516339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68512355..68516868-chr5:68528060..68533660,10	K562	blood:
2	chr5:68514651..68516753-chr5:68670108..68672785,2	K562	blood:
3	chr5:68512355..68517480-chr5:68528060..68532261,10	K562	blood:
4	chr5:68514852..68516852-chr5:68553089..68555836,2	K562	blood:
5	chr5:68483023..68488056-chr5:68511952..68517380,10	K562	blood:

Variant related genes	Relation type
ENSG00000153044	Chromatin interaction
ENSG00000134058	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10454825	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10515100	0.83[ASN][1000 genomes]
rs10940208	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1128761	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12188874	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12189395	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875380	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271735	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271763	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271912	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17331590	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069432	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28616082	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3846484	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3966728	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41392244	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56072942	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56101109	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56667192	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57047253	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58176819	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58725071	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59497209	0.83[ASN][1000 genomes]
rs61626775	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61699334	0.83[ASN][1000 genomes]
rs61743885	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66525615	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66595384	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67275234	0.83[ASN][1000 genomes]
rs67548500	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67693452	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67821207	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67980996	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6867050	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6890817	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767813	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767816	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767822	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767833	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72767837	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767849	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767855	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767860	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767861	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767863	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767864	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767865	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7709090	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7714908	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734513	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7736312	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72767820	CCDC125	cis	lung	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68514200-68530200	Weak transcription	Small Intestine	intestine
2	chr5:68514200-68530200	Weak transcription	Spleen	Spleen
3	chr5:68514400-68520400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:68514400-68520400	Weak transcription	Lung	lung
5	chr5:68514400-68521800	Weak transcription	Placenta	Placenta
6	chr5:68514400-68523000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:68514400-68523600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:68514400-68530200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:68514400-68530200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:68514400-68530200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:68514400-68530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:68514400-68530200	Weak transcription	Aorta	Aorta
13	chr5:68514400-68530200	Weak transcription	Esophagus	oesophagus
14	chr5:68514400-68530200	Weak transcription	Gastric	stomach
15	chr5:68514400-68530200	Weak transcription	Pancreas	Pancrea
16	chr5:68514400-68530200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:68514600-68520000	Weak transcription	Fetal Stomach	stomach
18	chr5:68514600-68520400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:68514600-68520400	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:68514600-68520400	Weak transcription	Thymus	Thymus
21	chr5:68514600-68522200	Weak transcription	Fetal Thymus	thymus
22	chr5:68514600-68523000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:68514600-68523400	Weak transcription	HSMM	muscle
24	chr5:68514600-68523600	Weak transcription	Ovary	ovary
25	chr5:68514600-68524000	Weak transcription	HSMMtube	muscle
26	chr5:68514800-68521600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:68514800-68521600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:68514800-68521600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:68514800-68523000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:68514800-68523400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:68514800-68523400	Weak transcription	Osteobl	bone
32	chr5:68514800-68523600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:68514800-68524000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:68514800-68524000	Weak transcription	NH-A	brain
35	chr5:68514800-68524200	Weak transcription	HUVEC	blood vessel
36	chr5:68514800-68530000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:68515000-68517200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr5:68515000-68517600	Weak transcription	Fetal Intestine Large	intestine
39	chr5:68515000-68523000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:68515000-68523400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:68515000-68524000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:68515000-68524200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:68515000-68530000	Weak transcription	Psoas Muscle	Psoas
44	chr5:68515200-68517800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:68515200-68517800	Weak transcription	Primary B cells from cord blood	blood
46	chr5:68515200-68520400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr5:68515200-68520400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:68515200-68522800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:68515200-68523000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:68515200-68523000	Weak transcription	A549	lung

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