Variant report

Variant	rs73403975
Chromosome Location	chr12:120975150-120975151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120974990-120975151	ProgFib	skin:	n/a	n/a
2	POLR2A	chr12:120974893-120975203	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120975110-120975160	MCF-7	breast:	n/a
2	chr12:120975110-120975160	ECC-1	luminal epithelium:	n/a
3	chr12:120975110-120975160	GM12892	blood:	n/a
4	chr12:120975110-120975160	H1-hESC	embryonic stem cell:	embryo
5	chr12:120975110-120975160	ProgFib	skin:	n/a
6	chr12:120975110-120975160	PFSK-1	brain:	n/a
7	chr12:120975110-120975160	SAEC	small airway:	n/a
8	chr12:120975110-120975160	AoSMC	blood vessel:	n/a
9	chr12:120975110-120975160	HCPEpiC	choroid plexus:	n/a
10	chr12:120975110-120975160	U87	brain:	n/a
11	chr12:120975110-120975160	CMK	blood:	n/a
12	chr12:120975110-120975160	HCF	heart:	n/a
13	chr12:120975110-120975160	SK-N-SH	brain:	n/a
14	chr12:120975110-120975160	NHDF-neo	bronchial:	n/a
15	chr12:120975110-120975160	GM06990	blood:	n/a
16	chr12:120975110-120975160	HCM	heart:	n/a
17	chr12:120975110-120975160	Jurkat	blood:	n/a
18	chr12:120975110-120975160	PANC-1	pancreas:	n/a
19	chr12:120975110-120975160	GM12878	blood:	n/a
20	chr12:120975110-120975160	HCT-116	colon:	n/a
21	chr12:120975110-120975160	HRPEpiC	eye:	n/a
22	chr12:120975110-120975160	Caco-2	colon:	n/a
23	chr12:120975110-120975160	HRE	kidney:	n/a
24	chr12:120975110-120975160	T-47D	breast:	n/a
25	chr12:120975110-120975160	NHBE	bronchial:	n/a
26	chr12:120975110-120975160	AG04450	lung:	fetal
27	chr12:120975110-120975160	GM12891	blood:	n/a
28	chr12:120975110-120975160	LNCaP	prostate:	n/a
29	chr12:120975110-120975160	HNPCEpiC	eye:	n/a
30	chr12:120975110-120975160	SK-N-SH_RA	brain:	n/a
31	chr12:120975110-120975160	Hepatocyte	liver:	n/a
32	chr12:120975110-120975160	GM19239	blood:	n/a
33	chr12:120975110-120975160	A549	lung:	n/a
34	chr12:120975110-120975160	MCF10A-Er-Src	breast:	n/a
35	chr12:120975110-120975160	HEEpiC	esophagus:	n/a
36	chr12:120975110-120975160	Hela-S3	cervix:	n/a
37	chr12:120975110-120975160	IMR90	lung:	fetal
38	chr12:120975110-120975160	HMEC	breast:	n/a
39	chr12:120975110-120975160	NB4	blood:	n/a
40	chr12:120975110-120975160	HRCEpiC	kidney:	n/a
41	chr12:120975110-120975160	HL-60	blood:	n/a
42	chr12:120975110-120975160	BJ	skin:	n/a
43	chr12:120975110-120975160	NT2-D1	testis:	n/a
44	chr12:120975110-120975160	AG09319	gingival:	n/a
45	chr12:120975110-120975160	ovcar-3	ovarian:	n/a
46	chr12:120975110-120975160	AG04449	skin:	fetal
47	chr12:120975110-120975160	HIPEpiC	eye:	n/a
48	chr12:120975110-120975160	HUVEC	blood vessel:	n/a
49	chr12:120975110-120975160	K562	blood:	n/a
50	chr12:120975110-120975160	HepG2	liver:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120727107..120731318-chr12:120971335..120975286,11	K562	blood:
2	chr12:120974402..120975933-chr12:120988975..120990489,2	MCF-7	breast:
3	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
4	chr12:120974713..120977550-chr12:122230607..122232618,2	MCF-7	breast:
5	chr12:120974437..120977304-chr12:120987855..120989624,2	K562	blood:
6	chr12:120729040..120730997-chr12:120974004..120976288,2	MCF-7	breast:
7	chr12:120925184..120926895-chr12:120973583..120975847,2	K562	blood:
8	chr12:120974815..120979080-chr12:120980221..120984438,7	K562	blood:
9	chr12:120973210..120975541-chr12:121135063..121137387,2	K562	blood:
10	chr12:120965752..120968769-chr12:120974337..120978260,3	MCF-7	breast:

No data

Variant related genes	Relation type
COQ5	TF binding region
COQ5	CpG island
ENSG00000256364	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11065140	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065142	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11548262	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11608807	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11609119	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11611781	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11611814	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612519	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11613214	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11614224	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615264	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615719	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11829765	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950293	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16950305	0.88[ASN][1000 genomes]
rs2280168	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35696148	0.88[ASN][1000 genomes]
rs3742049	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759402	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817301	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829291	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4102203	1.00[EUR][1000 genomes]
rs4439575	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57646360	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59088579	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59201986	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60162888	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6490292	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66840048	0.90[ASN][1000 genomes]
rs7027	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7134710	0.94[EUR][1000 genomes]
rs719449	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs719450	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296473	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297861	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7299954	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7314103	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73403923	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73403943	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73403947	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73403968	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405628	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7961895	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7962410	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964008	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7973555	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120972800-120975600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr12:120972800-120977400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr12:120972800-120977600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:120973000-120975200	Flanking Active TSS	Liver	Liver
5	chr12:120973000-120975200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr12:120973000-120976000	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr12:120973000-120977200	Flanking Active TSS	Rectal Smooth Muscle	rectum
8	chr12:120973000-120977400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:120973000-120980200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr12:120973200-120977000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr12:120973200-120977000	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr12:120973200-120977400	Flanking Active TSS	HUVEC	blood vessel
13	chr12:120973400-120975200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:120973400-120976800	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr12:120973400-120984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:120973600-120975200	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr12:120973600-120976400	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr12:120973600-120976600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:120973800-120975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:120973800-120976000	Flanking Active TSS	Psoas Muscle	Psoas
21	chr12:120973800-120984000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:120974000-120975200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:120974000-120975400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:120974000-120976000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:120974000-120976600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:120974000-120977200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr12:120974000-120977800	Enhancers	Spleen	Spleen
28	chr12:120974200-120975600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:120974200-120975600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:120974200-120976800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:120974200-120976800	Flanking Active TSS	HepG2	liver
32	chr12:120974200-120978600	Genic enhancers	Fetal Muscle Leg	muscle
33	chr12:120974400-120975800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:120974400-120976200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:120974400-120976600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:120974400-120976600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:120974400-120977400	Genic enhancers	Fetal Thymus	thymus
38	chr12:120974400-120977600	Enhancers	Stomach Mucosa	stomach
39	chr12:120974400-120977600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
40	chr12:120974400-120984200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:120974600-120975200	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:120974600-120975200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:120974600-120975400	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:120974600-120975400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:120974600-120975400	Enhancers	Aorta	Aorta
46	chr12:120974600-120975400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:120974600-120975400	Enhancers	HSMMtube	muscle
48	chr12:120974600-120975400	Weak transcription	NH-A	brain
49	chr12:120974600-120975600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:120974600-120975600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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