Variant report

Variant	rs72767837
Chromosome Location	chr5:68531099-68531100
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68483901..68487830-chr5:68528757..68532922,9	K562	blood:
2	chr5:68512355..68516868-chr5:68528060..68533660,10	K562	blood:
3	chr5:68529171..68532388-chr5:68663415..68666737,3	K562	blood:
4	chr5:68512355..68517480-chr5:68528060..68532261,10	K562	blood:
5	chr5:68530945..68532461-chr5:68661059..68663307,2	K562	blood:
6	chr5:68512209..68515422-chr5:68529314..68532677,7	MCF-7	breast:
7	chr5:68530475..68532147-chr5:89705204..89707833,2	MCF-7	breast:
8	chr5:68513108..68514098-chr5:68530550..68531226,2	Hela-S3	cervix:
9	chr5:68529975..68532202-chr5:68627120..68629377,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152942	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000255647	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000134056	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	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10515100	0.83[ASN][1000 genomes]
rs10940208	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1128761	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12188874	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12189395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875380	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271735	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271763	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271912	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17331590	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069432	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28616082	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3846484	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3966728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41392244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56072942	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56101109	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56667192	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57047253	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58176819	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58725071	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59497209	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61626775	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61699334	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61743885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66525615	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66595384	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67275234	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67548500	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67693452	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67821207	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67980996	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6867050	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6890817	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767813	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767820	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767822	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72767849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767855	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767860	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767861	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767863	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767864	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767865	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7709090	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7714908	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734513	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7736312	0.92[AMR][1000 genomes];0.91[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
rs72767837	CCDC125	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68529800-68532000	Active TSS	A549	lung
2	chr5:68529800-68533000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:68530000-68531200	Active TSS	Primary T cells from cord blood	blood
4	chr5:68530000-68531200	Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr5:68530000-68531200	Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:68530000-68531400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:68530000-68531400	Active TSS	Fetal Brain Male	brain
8	chr5:68530000-68531400	Active TSS	Fetal Stomach	stomach
9	chr5:68530000-68531400	Active TSS	Right Ventricle	heart
10	chr5:68530000-68531400	Active TSS	Thymus	Thymus
11	chr5:68530000-68531600	Active TSS	Fetal Muscle Leg	muscle
12	chr5:68530000-68531600	Active TSS	Fetal Thymus	thymus
13	chr5:68530000-68531600	Active TSS	Rectal Smooth Muscle	rectum
14	chr5:68530000-68531800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:68530000-68531800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:68530000-68531800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:68530000-68531800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:68530000-68532200	Active TSS	Psoas Muscle	Psoas
19	chr5:68530000-68532400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr5:68530000-68532600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:68530200-68531200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:68530200-68531200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:68530200-68531200	Active TSS	Esophagus	oesophagus
24	chr5:68530200-68531200	Active TSS	Gastric	stomach
25	chr5:68530200-68531200	Active TSS	Left Ventricle	heart
26	chr5:68530200-68531200	Active TSS	Lung	lung
27	chr5:68530200-68531200	Active TSS	Pancreas	Pancrea
28	chr5:68530200-68531200	Active TSS	Placenta Amnion	Placenta Amnion
29	chr5:68530200-68531200	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr5:68530200-68531200	Active TSS	Small Intestine	intestine
31	chr5:68530200-68531200	Active TSS	Spleen	Spleen
32	chr5:68530200-68531400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr5:68530200-68531400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:68530200-68531400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:68530200-68531400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:68530200-68531400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:68530200-68531400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:68530200-68531400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr5:68530200-68531400	Active TSS	Aorta	Aorta
40	chr5:68530200-68531400	Active TSS	Brain Angular Gyrus	brain
41	chr5:68530200-68531400	Active TSS	Brain Anterior Caudate	brain
42	chr5:68530200-68531400	Active TSS	Brain Cingulate Gyrus	brain
43	chr5:68530200-68531400	Active TSS	Brain Hippocampus Middle	brain
44	chr5:68530200-68531400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr5:68530200-68531400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr5:68530200-68531400	Active TSS	Fetal Brain Female	brain
47	chr5:68530200-68531400	Active TSS	Fetal Lung	lung
48	chr5:68530200-68531400	Active TSS	HUVEC	blood vessel
49	chr5:68530200-68531600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:68530200-68531600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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