Variant report

Variant	rs72767849
Chromosome Location	chr5:68537480-68537481
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68534182..68537947-chr5:68660840..68664102,4	K562	blood:
2	chr5:68536149..68538445-chr5:68627024..68629643,2	MCF-7	breast:
3	chr5:68533315..68535936-chr5:68536358..68538976,2	K562	blood:

Variant related genes	Relation type
ENSG00000183323	Chromatin interaction
ENSG00000085231	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10454825	0.92[AMR][1000 genomes];0.89[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];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1128761	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12188874	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12189395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875380	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271735	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271763	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271912	0.96[AFR][1000 genomes];1.00[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	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28616082	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3846484	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3966728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41392244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56072942	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56101109	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56667192	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57047253	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58176819	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58725071	0.92[AMR][1000 genomes];0.89[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];0.86[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];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66525615	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66595384	0.92[AMR][1000 genomes];0.89[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];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67693452	0.92[AMR][1000 genomes];0.89[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];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6867050	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6890817	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767813	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767820	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767822	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72767837	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];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767860	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767861	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767863	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767864	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767865	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7702373	0.81[EUR][1000 genomes]
rs7709090	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7714908	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734513	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7736312	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1795469	chr5:68534233-68565285	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72767849	CCDC125	cis	lung	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68531600-68554600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:68531800-68538800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:68531800-68545800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:68531800-68552200	Weak transcription	Colonic Mucosa	Colon
7	chr5:68531800-68552200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:68531800-68554600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:68531800-68556000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:68531800-68556800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:68532200-68551400	Weak transcription	Psoas Muscle	Psoas
12	chr5:68532200-68553400	Weak transcription	Fetal Heart	heart
13	chr5:68532400-68539600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:68532400-68551600	Weak transcription	Ovary	ovary
15	chr5:68532400-68558600	Weak transcription	Brain Substantia Nigra	brain
16	chr5:68532400-68558800	Weak transcription	Brain Angular Gyrus	brain
17	chr5:68532400-68563600	Weak transcription	Fetal Brain Male	brain
18	chr5:68532400-68574600	Weak transcription	Spleen	Spleen
19	chr5:68532800-68540800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:68533000-68538400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:68533000-68539200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:68533200-68538000	Strong transcription	Fetal Thymus	thymus
23	chr5:68533200-68538400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:68533200-68539200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr5:68533200-68545800	Weak transcription	Adipose Nuclei	Adipose
26	chr5:68533200-68576800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:68533400-68538600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:68533400-68551200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:68533600-68538600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:68533600-68546200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:68533600-68552200	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:68533600-68552400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:68533800-68538000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:68533800-68538200	Strong transcription	Fetal Intestine Large	intestine
35	chr5:68533800-68538800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:68533800-68544200	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:68534000-68539800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:68534200-68552400	Weak transcription	Fetal Brain Female	brain
39	chr5:68534400-68546200	Weak transcription	Lung	lung
40	chr5:68534400-68552000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:68534400-68554600	Weak transcription	Gastric	stomach
42	chr5:68534400-68556000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:68534400-68575200	Weak transcription	Aorta	Aorta
44	chr5:68534800-68538000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:68534800-68546000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:68534800-68546200	Weak transcription	Esophagus	oesophagus
47	chr5:68534800-68546200	Weak transcription	Thymus	Thymus
48	chr5:68534800-68551800	Weak transcription	Left Ventricle	heart
49	chr5:68534800-68554200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:68535000-68551600	Weak transcription	Stomach Smooth Muscle	stomach

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