Variant report

Variant	rs4946970
Chromosome Location	chr6:109706010-109706011
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr6:109705510-109706047	MCF-7	breast:	n/a	chr6:109705836-109705847
2	JUN	chr6:109705529-109706194	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:109705588-109706023	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr6:109705319-109706032	HepG2	liver:	n/a	n/a
5	FOXA1	chr6:109705158-109706031	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:109705614-109706017	IMR90	lung:	n/a	n/a
7	POLR2A	chr6:109702256-109706422	HepG2	liver:	n/a	n/a
8	CEBPB	chr6:109705492-109706025	Hela-S3	cervix:	n/a	n/a
9	KAP1	chr6:109705512-109706322	U2OS	brain:	n/a	n/a
10	FOSL2	chr6:109705496-109706122	SK-N-SH	brain:	n/a	n/a
11	FOS	chr6:109705619-109706028	MCF10A-Er-Src	breast:	n/a	chr6:109705836-109705847
12	CEBPB	chr6:109705488-109706069	MCF-7	breast:	n/a	n/a
13	FOS	chr6:109705528-109706060	K562	blood:	n/a	chr6:109705836-109705847
14	GATA3	chr6:109705465-109706175	SK-N-SH	brain:	n/a	chr6:109706045-109706055
15	GATA1	chr6:109705460-109706080	PBDE	blood:	n/a	chr6:109706045-109706055
16	CEBPB	chr6:109705545-109706061	K562	blood:	n/a	n/a
17	CCNT2	chr6:109705477-109706163	K562	blood:	n/a	n/a
18	EP300	chr6:109705245-109706049	HepG2	liver:	n/a	n/a
19	FOSL2	chr6:109705538-109706020	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:109705607-109706057	Hela-S3	cervix:	n/a	n/a
21	RCOR1	chr6:109705513-109706059	K562	blood:	n/a	n/a
22	RFX5	chr6:109705461-109706068	Hela-S3	cervix:	n/a	chr6:109705683-109705692 chr6:109705680-109705693
23	SIN3AK20	chr6:109705425-109706235	MCF-7	breast:	n/a	n/a
24	GATA3	chr6:109705543-109706139	MCF-7	breast:	n/a	chr6:109706045-109706055
25	EP300	chr6:109705392-109706067	K562	blood:	n/a	chr6:109706047-109706056
26	CEBPB	chr6:109705528-109706033	A549	lung:	n/a	n/a
27	CEBPD	chr6:109705419-109706117	K562	blood:	n/a	n/a
28	STAT3	chr6:109705549-109706046	Hela-S3	cervix:	n/a	n/a
29	ATF3	chr6:109705520-109706035	K562	blood:	n/a	n/a
30	HEY1	chr6:109705746-109706022	HepG2	liver:	n/a	n/a
31	MAFK	chr6:109705546-109706068	K562	blood:	n/a	n/a
32	SP1	chr6:109705173-109706047	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:109705694-109706015	Hela-S3	cervix:	n/a	n/a
34	CUX1	chr6:109705593-109706132	K562	blood:	n/a	n/a
35	GATA3	chr6:109705223-109706227	MCF-7	breast:	n/a	chr6:109706045-109706055
36	JUN	chr6:109705511-109706208	HepG2	liver:	n/a	n/a
37	FOXA1	chr6:109705335-109706017	HepG2	liver:	n/a	n/a
38	CEBPB	chr6:109705449-109706149	MCF-7	breast:	n/a	n/a
39	RCOR1	chr6:109705294-109706019	K562	blood:	n/a	n/a
40	ZNF143	chr6:109705609-109706017	K562	blood:	n/a	n/a
41	GATA1	chr6:109705267-109707231	K562	blood:	n/a	chr6:109706045-109706055 chr6:109706324-109706332
42	JUN	chr6:109705634-109706054	K562	blood:	n/a	n/a
43	POLR2A	chr6:109705802-109706059	Hela-S3	cervix:	n/a	n/a
44	FOSL2	chr6:109705640-109706098	MCF-7	breast:	n/a	n/a
45	JUND	chr6:109705482-109706078	HepG2	liver:	n/a	chr6:109705836-109705847
46	ARID3A	chr6:109705264-109706118	HepG2	liver:	n/a	n/a
47	CEBPB	chr6:109705396-109706075	K562	blood:	n/a	n/a
48	FOSL2	chr6:109705533-109706028	MCF-7	breast:	n/a	n/a
49	JUN	chr6:109705357-109706403	K562	blood:	n/a	n/a
50	FOSL2	chr6:109705580-109706081	A549	lung:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:109704505..109707009-chr6:109717499..109719402,2	K562	blood:
2	chr6:109704063..109706352-chr6:109779634..109782625,2	K562	blood:
3	chr6:109554938..109560362-chr6:109702019..109707132,8	K562	blood:
4	chr6:109702383..109706611-chr6:109760202..109762116,4	K562	blood:
5	chr6:109616026..109618263-chr6:109705569..109707885,2	MCF-7	breast:
6	chr6:108878269..108881845-chr6:109702991..109706559,3	K562	blood:
7	chr6:109414834..109419474-chr6:109701430..109708028,12	K562	blood:
8	chr6:109705517..109707022-chr6:109759726..109761744,2	K562	blood:
9	chr6:109702022..109707287-chr6:109760251..109763953,8	MCF-7	breast:
10	chr6:109486803..109488708-chr6:109704418..109707103,2	K562	blood:
11	chr6:109624351..109631970-chr6:109702157..109706422,11	K562	blood:
12	chr6:109655906..109657888-chr6:109704204..109706097,2	K562	blood:
13	chr6:109414590..109417855-chr6:109700035..109707147,9	K562	blood:
14	chr6:109623091..109628183-chr6:109700606..109706462,9	K562	blood:
15	chr6:108879178..108880841-chr6:109704177..109706752,2	MCF-7	breast:

No data

Variant related genes	Relation type
CD164	TF binding region
ENSG00000203799	Chromatin interaction
ENSG00000243587	Chromatin interaction
ENSG00000185250	Chromatin interaction
ENSG00000201023	Chromatin interaction
ENSG00000183137	Chromatin interaction
ENSG00000135587	Chromatin interaction
ENSG00000118689	Chromatin interaction
ENSG00000080546	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1046943	0.88[EUR][1000 genomes]
rs1074765	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1074766	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10872033	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11251	0.94[EUR][1000 genomes]
rs12214147	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12529733	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13219952	0.95[EUR][1000 genomes]
rs1476387	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1521907	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17070591	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1853330	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1885690	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1885691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2211288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236084	0.88[EUR][1000 genomes]
rs2277113	0.90[EUR][1000 genomes]
rs2884037	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35146243	0.88[EUR][1000 genomes]
rs3734652	0.88[EUR][1000 genomes]
rs3757230	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3757231	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3757235	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3778474	0.94[EUR][1000 genomes]
rs3778478	0.88[EUR][1000 genomes]
rs3818933	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4636056	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945831	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4946967	0.94[EUR][1000 genomes]
rs4946976	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs58644322	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59597139	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6914216	0.94[EUR][1000 genomes]
rs6920372	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6939548	0.88[EUR][1000 genomes]
rs6939953	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs699700	0.94[EUR][1000 genomes]
rs730089	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs736830	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746794	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7748669	0.92[EUR][1000 genomes]
rs7751582	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7754650	0.94[EUR][1000 genomes]
rs7768973	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8465	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs910730	0.91[EUR][1000 genomes]
rs9320286	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9372213	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9386799	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9480947	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9480949	0.93[EUR][1000 genomes]
rs9480956	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9480958	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9487064	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9487066	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9487069	0.94[EUR][1000 genomes]
rs9487070	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9487076	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9487084	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9487085	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9487103	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs974034	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9791241	0.88[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4946970	C6orf199	Cis_1M	lymphoblastoid	RTeQTL
rs4946970	SMPD2	cis	Esophagus Mucosa	GTEx
rs4946970	RP11-425D10.10	cis	Skin Sun Exposed Lower leg	GTEx
rs4946970	RP11-425D10.10	cis	Whole Blood	GTEx
rs4946970	ZBTB24	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109700600-109706200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:109703800-109707000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:109704400-109706400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr6:109704600-109706200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr6:109704600-109706200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr6:109704600-109706400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr6:109704600-109706400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:109704600-109706400	Flanking Active TSS	Hela-S3	cervix
9	chr6:109704600-109706400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr6:109704600-109706600	Enhancers	Brain Cingulate Gyrus	brain
11	chr6:109704600-109706600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:109704600-109706800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:109704600-109710800	Weak transcription	Aorta	Aorta
14	chr6:109704800-109706200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:109704800-109706200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:109704800-109706200	Enhancers	Brain Angular Gyrus	brain
17	chr6:109704800-109706200	Flanking Active TSS	Fetal Intestine Small	intestine
18	chr6:109704800-109706600	Flanking Active TSS	K562	blood
19	chr6:109705000-109706200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:109705000-109706200	Enhancers	Fetal Lung	lung
21	chr6:109705000-109706200	Enhancers	HSMM	muscle
22	chr6:109705000-109706200	Enhancers	HUVEC	blood vessel
23	chr6:109705000-109706200	Enhancers	NH-A	brain
24	chr6:109705000-109706200	Enhancers	NHDF-Ad	bronchial
25	chr6:109705000-109706400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:109705000-109706400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:109705000-109706400	Enhancers	Primary B cells from cord blood	blood
28	chr6:109705000-109706400	Enhancers	Brain Substantia Nigra	brain
29	chr6:109705000-109706400	Enhancers	Osteobl	bone
30	chr6:109705000-109706600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:109705000-109706600	Enhancers	Fetal Thymus	thymus
32	chr6:109705000-109707000	Enhancers	Stomach Mucosa	stomach
33	chr6:109705000-109707600	Enhancers	Placenta	Placenta
34	chr6:109705000-109745200	Weak transcription	Fetal Kidney	kidney
35	chr6:109705200-109706200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr6:109705200-109706200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:109705200-109706200	Weak transcription	Pancreas	Pancrea
38	chr6:109705200-109706200	Enhancers	Thymus	Thymus
39	chr6:109705200-109706200	Enhancers	HMEC	breast
40	chr6:109705200-109706400	Enhancers	Primary B cells from peripheral blood	blood
41	chr6:109705200-109706400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:109705200-109706400	Enhancers	A549	lung
43	chr6:109705200-109706600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:109705200-109706600	Enhancers	Fetal Stomach	stomach
45	chr6:109705200-109710800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:109705400-109707000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:109705400-109707800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:109705400-109710800	Weak transcription	Right Atrium	heart
49	chr6:109705600-109706200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr6:109705600-109706200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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