Variant report

Variant	rs72767816
Chromosome Location	chr5:68509633-68509634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68509603-68509889	K562	blood:	n/a	n/a
2	JUN	chr5:68509572-68510016	K562	blood:	n/a	n/a
3	POLR2A	chr5:68508566-68510247	K562	blood:	n/a	n/a
4	JUN	chr5:68509566-68510000	K562	blood:	n/a	n/a
5	MAX	chr5:68509527-68510017	SK-N-SH	brain:	n/a	n/a
6	JUN	chr5:68509575-68509937	K562	blood:	n/a	n/a
7	MAX	chr5:68509603-68509860	HepG2	liver:	n/a	n/a
8	MYC	chr5:68509608-68509944	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr5:68509390-68510211	SK-N-SH	brain:	n/a	n/a
10	CUX1	chr5:68509625-68509861	K562	blood:	n/a	n/a
11	JUND	chr5:68509286-68510155	SK-N-SH	brain:	n/a	chr5:68509784-68509795
12	CEBPB	chr5:68509585-68509961	K562	blood:	n/a	n/a
13	JUND	chr5:68509596-68509979	HepG2	liver:	n/a	chr5:68509784-68509795
14	TCF12	chr5:68509408-68510158	SK-N-SH	brain:	n/a	n/a
15	CEBPB	chr5:68509625-68509905	K562	blood:	n/a	n/a
16	IRF1	chr5:68509552-68509882	K562	blood:	n/a	n/a
17	RCOR1	chr5:68509614-68509861	Hela-S3	cervix:	n/a	n/a
18	EP300	chr5:68509525-68510044	HepG2	liver:	n/a	n/a
19	TEAD4	chr5:68509538-68509960	K562	blood:	n/a	n/a
20	MYC	chr5:68509595-68509945	K562	blood:	n/a	n/a
21	MAX	chr5:68509565-68509904	MCF-7	breast:	n/a	n/a
22	PBX3	chr5:68509475-68510020	SK-N-SH	brain:	n/a	n/a
23	FOSL1	chr5:68509516-68510024	K562	blood:	n/a	chr5:68509784-68509795
24	JUN	chr5:68509600-68509953	K562	blood:	n/a	n/a
25	MAX	chr5:68509483-68509892	K562	blood:	n/a	n/a
26	MYC	chr5:68509555-68509946	K562	blood:	n/a	n/a
27	ARID3A	chr5:68509606-68510105	HepG2	liver:	n/a	n/a
28	MAX	chr5:68509554-68509923	K562	blood:	n/a	n/a
29	CEBPB	chr5:68509579-68509951	IMR90	lung:	n/a	n/a
30	FOS	chr5:68509608-68509949	MCF10A-Er-Src	breast:	n/a	chr5:68509784-68509795
31	FOXA2	chr5:68509623-68510009	HepG2	liver:	n/a	n/a
32	FOSL2	chr5:68509570-68509978	HepG2	liver:	n/a	chr5:68509783-68509794
33	JUN	chr5:68509604-68509960	HepG2	liver:	n/a	n/a
34	JUN	chr5:68509273-68510211	K562	blood:	n/a	n/a
35	JUND	chr5:68509469-68510175	SK-N-SH	brain:	n/a	chr5:68509784-68509795
36	POLR2A	chr5:68509529-68509980	SK-N-SH	brain:	n/a	n/a
37	JUN	chr5:68509614-68509961	K562	blood:	n/a	n/a
38	FOSL2	chr5:68509598-68510029	MCF-7	breast:	n/a	chr5:68509783-68509794
39	MAX	chr5:68509518-68509995	SK-N-SH	brain:	n/a	n/a
40	TEAD4	chr5:68509478-68510041	HepG2	liver:	n/a	n/a
41	FOSL1	chr5:68509588-68509973	K562	blood:	n/a	chr5:68509784-68509795
42	TCF12	chr5:68509391-68510160	SK-N-SH	brain:	n/a	n/a
43	CEBPB	chr5:68509592-68509925	Hela-S3	cervix:	n/a	n/a
44	CBX3	chr5:68509524-68509989	K562	blood:	n/a	n/a
45	MXI1	chr5:68509459-68510020	IMR90	lung:	n/a	n/a
46	FOS	chr5:68509612-68509948	MCF10A-Er-Src	breast:	n/a	chr5:68509784-68509795
47	GATA1	chr5:68509467-68510105	K562	blood:	n/a	n/a
48	POLR2A	chr5:68509415-68509908	PANC-1	pancreas:	n/a	n/a
49	GATA3	chr5:68509511-68510048	MCF-7	breast:	n/a	n/a
50	RCOR1	chr5:68509589-68509950	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68509300..68511885-chr5:68513443..68516137,3	K562	blood:
2	chr5:68508210..68511078-chr5:68511124..68514731,4	MCF-7	breast:

Variant related genes	Relation type
MRPS36	TF binding region
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];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10515100	0.83[ASN][1000 genomes]
rs10940208	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1128761	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12188874	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12189395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875380	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271735	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271763	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17331590	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069432	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28616082	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3846484	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3966728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41392244	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56072942	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56101109	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56667192	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57047253	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58176819	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58725071	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59497209	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61626775	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61699334	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61743885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66525615	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66595384	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67275234	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67548500	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67693452	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67821207	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67980996	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6867050	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6890817	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767813	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767820	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];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767833	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72767837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767855	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767860	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767861	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767863	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767864	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767865	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7709090	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7714908	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734513	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7736312	0.92[AMR][1000 genomes];0.95[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
rs72767816	CCDC125	cis	lung	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68486000-68513600	Weak transcription	Gastric	stomach
2	chr5:68486200-68512800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:68486400-68512400	Weak transcription	Primary B cells from cord blood	blood
4	chr5:68486400-68512600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:68486400-68513000	Weak transcription	Brain Germinal Matrix	brain
6	chr5:68486400-68513000	Weak transcription	Fetal Intestine Large	intestine
7	chr5:68486400-68513000	Weak transcription	Osteobl	bone
8	chr5:68487400-68511200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:68490400-68513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:68492400-68513000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:68492800-68512200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:68492800-68513000	Weak transcription	Fetal Brain Female	brain
13	chr5:68494600-68513200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:68495400-68512800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:68495400-68513000	Weak transcription	HMEC	breast
16	chr5:68495400-68513400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:68495600-68512400	Weak transcription	Primary T cells from cord blood	blood
18	chr5:68495600-68512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:68495600-68512800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:68495600-68513000	Weak transcription	Fetal Lung	lung
21	chr5:68495600-68513200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:68495600-68513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:68497800-68513200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:68498000-68512800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:68500600-68513000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:68501600-68513000	Weak transcription	Thymus	Thymus
27	chr5:68502800-68513600	Weak transcription	Small Intestine	intestine
28	chr5:68505400-68513000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:68506400-68513000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:68507000-68513000	Weak transcription	Fetal Stomach	stomach
31	chr5:68507000-68513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:68507200-68513000	Weak transcription	Fetal Intestine Small	intestine
33	chr5:68507400-68512800	Weak transcription	Fetal Thymus	thymus
34	chr5:68507400-68513400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:68507600-68513000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:68507600-68513000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:68507600-68513000	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:68507600-68513200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:68507800-68512400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:68508000-68512000	Weak transcription	Dnd41	blood
41	chr5:68508000-68512800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:68508000-68513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:68508000-68513200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:68508000-68513400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:68508000-68513400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:68508200-68512800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:68508200-68513000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:68508200-68513000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:68508200-68513000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr5:68509000-68510000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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