Variant report

Variant	rs570296031
Chromosome Location	chr12:123872590-123872591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:129)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:129 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:123872419-123873358	GM12878	blood:	n/a	n/a
2	NFYB	chr12:123872085-123872640	K562	blood:	n/a	n/a
3	MYC	chr12:123872147-123873232	K562	blood:	n/a	n/a
4	CTCF	chr12:123872460-123872610	GM12866	blood:	n/a	n/a
5	MXI1	chr12:123872542-123875203	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr12:123871918-123873823	K562	blood:	n/a	n/a
7	ATF1	chr12:123872000-123873150	K562	blood:	n/a	n/a
8	MAX	chr12:123872523-123873520	NB4	blood:	n/a	n/a
9	IRF1	chr12:123871853-123873232	K562	blood:	n/a	chr12:123872050-123872063 chr12:123872050-123872064 chr12:123872050-123872061
10	ZNF274	chr12:123871829-123873085	K562	blood:	n/a	n/a
11	STAT5A	chr12:123872506-123873387	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:123872518-123873732	GM12892	blood:	n/a	n/a
13	IRF1	chr12:123872122-123872946	K562	blood:	n/a	n/a
14	SMC3	chr12:123872398-123872692	K562	blood:	n/a	chr12:123872631-123872638
15	MTA3	chr12:123872367-123873247	GM12878	blood:	n/a	n/a
16	UBTF	chr12:123872089-123874739	K562	blood:	n/a	n/a
17	POLR2A	chr12:123872559-123873723	Raji	blood:	n/a	n/a
18	TEAD4	chr12:123871696-123873389	K562	blood:	n/a	n/a
19	CEBPD	chr12:123871766-123873277	K562	blood:	n/a	n/a
20	UBTF	chr12:123872256-123873580	K562	blood:	n/a	n/a
21	ZNF384	chr12:123872299-123873077	K562	blood:	n/a	n/a
22	YY1	chr12:123872442-123873252	K562	blood:	n/a	n/a
23	ELF1	chr12:123872558-123873675	GM12878	blood:	n/a	chr12:123872747-123872758 chr12:123873365-123873377
24	CEBPB	chr12:123872227-123873092	K562	blood:	n/a	n/a
25	MAFK	chr12:123872049-123873033	K562	blood:	n/a	n/a
26	CTCF	chr12:123872440-123872590	GM12872	blood:	n/a	n/a
27	HCFC1	chr12:123872326-123873166	K562	blood:	n/a	n/a
28	RFX5	chr12:123872220-123873046	K562	blood:	n/a	n/a
29	TAL1	chr12:123871943-123873222	K562	blood:	n/a	n/a
30	POLR2A	chr12:123872534-123873868	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:123872536-123874596	GM18505	blood:	n/a	n/a
32	YY1	chr12:123872178-123873874	K562	blood:	n/a	n/a
33	YY1	chr12:123872455-123873909	GM12878	blood:	n/a	n/a
34	STAT5A	chr12:123872016-123873279	K562	blood:	n/a	n/a
35	ETS1	chr12:123872502-123873215	K562	blood:	n/a	n/a
36	RFX5	chr12:123872546-123873002	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:123871919-123873387	K562	blood:	n/a	n/a
38	REST	chr12:123872138-123872612	K562	blood:	n/a	n/a
39	MAX	chr12:123872067-123873196	K562	blood:	n/a	n/a
40	REST	chr12:123872566-123873577	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr12:123872468-123873708	GM19099	blood:	n/a	n/a
42	RCOR1	chr12:123871928-123873269	K562	blood:	n/a	n/a
43	GATA1	chr12:123871860-123873276	PBDE	blood:	n/a	chr12:123872319-123872328 chr12:123872318-123872328 chr12:123872319-123872328
44	NFIC	chr12:123872477-123873106	GM12878	blood:	n/a	n/a
45	HDAC2	chr12:123871999-123873129	K562	blood:	n/a	chr12:123872318-123872327
46	POLR2A	chr12:123871971-123875084	K562	blood:	n/a	n/a
47	CTCF	chr12:123872540-123872690	HEK293	kidney:	n/a	n/a
48	POLR2A	chr12:123872531-123874590	GM18951	blood:	n/a	n/a
49	STAT5A	chr12:123872468-123873142	K562	blood:	n/a	n/a
50	NR2F2	chr12:123871915-123873215	K562	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123717467..123721119-chr12:123869942..123873013,3	K562	blood:
2	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
3	chr12:123715746..123718967-chr12:123870796..123875270,4	K562	blood:
4	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
5	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
6	chr12:123458609..123460830-chr12:123870435..123872750,2	K562	blood:
7	chr12:123872223..123875553-chr12:124085591..124088201,3	MCF-7	breast:
8	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
9	chr12:123871392..123873266-chr12:123879118..123880787,2	K562	blood:
10	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
11	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
12	chr12:123870684..123873491-chr12:123941342..123943069,2	MCF-7	breast:
13	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
14	chr12:123871220..123873431-chr12:123897619..123900288,2	K562	blood:
15	chr12:123846590..123852305-chr12:123861449..123873718,39	K562	blood:
16	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
17	chr12:123872056..123874942-chr12:124085224..124088307,3	MCF-7	breast:
18	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:

No data

Variant related genes	Relation type
SETD8	TF binding region
ENSG00000188026	Chromatin interaction
ENSG00000150977	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000130921	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv899579	chr12:123843017-123901480	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv826534	chr12:123859610-123876354	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv3398876	chr12:123872199-123875147	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3439140	chr12:123872224-123874772	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123869600-123872600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123869600-123872600	Weak transcription	Ovary	ovary
3	chr12:123869600-123872600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:123869600-123872600	Weak transcription	Small Intestine	intestine
5	chr12:123869600-123873000	Weak transcription	Aorta	Aorta
6	chr12:123869800-123872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:123870200-123872600	Enhancers	Duodenum Mucosa	Duodenum
8	chr12:123870200-123872600	Enhancers	Fetal Intestine Large	intestine
9	chr12:123870200-123872800	Flanking Active TSS	K562	blood
10	chr12:123871400-123872800	Enhancers	Psoas Muscle	Psoas
11	chr12:123871600-123872600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:123871800-123872600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:123871800-123872600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:123871800-123872600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:123871800-123872600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:123871800-123872600	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:123871800-123872600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:123871800-123872600	Enhancers	Left Ventricle	heart
19	chr12:123871800-123872800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:123871800-123872800	Enhancers	Esophagus	oesophagus
21	chr12:123871800-123872800	Enhancers	Fetal Muscle Leg	muscle
22	chr12:123871800-123872800	Enhancers	Spleen	Spleen
23	chr12:123872000-123872600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:123872000-123872600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:123872000-123872600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr12:123872000-123872600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr12:123872000-123872600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:123872000-123872600	Enhancers	Brain Hippocampus Middle	brain
29	chr12:123872000-123872600	Enhancers	Stomach Mucosa	stomach
30	chr12:123872000-123872600	Enhancers	HSMM	muscle
31	chr12:123872000-123872600	Enhancers	NHDF-Ad	bronchial
32	chr12:123872000-123872600	Enhancers	NHLF	lung
33	chr12:123872000-123872800	Enhancers	Fetal Stomach	stomach
34	chr12:123872000-123872800	Enhancers	Pancreas	Pancrea
35	chr12:123872000-123872800	Flanking Active TSS	GM12878-XiMat	blood
36	chr12:123872000-123873000	Flanking Active TSS	HepG2	liver
37	chr12:123872000-123873000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:123872000-123873200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:123872000-123873200	Flanking Active TSS	Dnd41	blood
40	chr12:123872200-123872600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:123872200-123872600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr12:123872200-123872600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:123872200-123872600	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:123872200-123872600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:123872200-123872600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:123872200-123872600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr12:123872200-123872600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:123872200-123872600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:123872200-123872600	Enhancers	Adipose Nuclei	Adipose
50	chr12:123872200-123872600	Enhancers	Liver	Liver

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