Variant report

Variant	rs543626298
Chromosome Location	chr12:123873125-123873126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:219)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:219 , 50 per page) page: 1 2 3 4 5

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	POLR2A	chr12:123872963-123873741	H1-neurons	neurons:	n/a	n/a
3	MYC	chr12:123872147-123873232	K562	blood:	n/a	n/a
4	SIN3AK20	chr12:123872848-123873281	A549	lung:	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	POLR2A	chr12:123872977-123874022	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr12:123872629-123873675	GM19193	blood:	n/a	n/a
9	ATF1	chr12:123872000-123873150	K562	blood:	n/a	n/a
10	NR3C1	chr12:123872970-123873827	A549	lung:	n/a	n/a
11	SMC3	chr12:123872973-123873416	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:123872815-123873244	GM12891	blood:	n/a	n/a
13	MAX	chr12:123872523-123873520	NB4	blood:	n/a	n/a
14	WRNIP1	chr12:123872642-123873193	GM12878	blood:	n/a	n/a
15	CTCF	chr12:123873000-123873150	GM12866	blood:	n/a	n/a
16	POLR2A	chr12:123872881-123873254	GM12892	blood:	n/a	n/a
17	IRF1	chr12:123871853-123873232	K562	blood:	n/a	chr12:123872050-123872063 chr12:123872050-123872064 chr12:123872050-123872061
18	POLR2A	chr12:123872611-123873322	GM12892	blood:	n/a	n/a
19	SIN3AK20	chr12:123872927-123873239	HepG2	liver:	n/a	n/a
20	CTCF	chr12:123873080-123873230	GM12871	blood:	n/a	n/a
21	TAF1	chr12:123872884-123873514	H1-neurons	neurons:	n/a	n/a
22	STAT5A	chr12:123872506-123873387	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:123873009-123873327	U87	brain:	n/a	n/a
24	SMC3	chr12:123873017-123873252	K562	blood:	n/a	n/a
25	POLR2A	chr12:123872518-123873732	GM12892	blood:	n/a	n/a
26	PAX5	chr12:123872976-123873267	GM12878	blood:	n/a	n/a
27	TAF1	chr12:123872787-123873342	GM12878	blood:	n/a	n/a
28	MTA3	chr12:123872367-123873247	GM12878	blood:	n/a	n/a
29	UBTF	chr12:123872089-123874739	K562	blood:	n/a	n/a
30	MAZ	chr12:123873111-123873714	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr12:123872892-123873779	GM12892	blood:	n/a	n/a
32	POLR2A	chr12:123872559-123873723	Raji	blood:	n/a	n/a
33	TEAD4	chr12:123871696-123873389	K562	blood:	n/a	n/a
34	CEBPD	chr12:123871766-123873277	K562	blood:	n/a	n/a
35	NFYB	chr12:123872902-123873259	GM12878	blood:	n/a	n/a
36	MAX	chr12:123872752-123873217	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:123872972-123873619	GM12878	blood:	n/a	n/a
38	UBTF	chr12:123872256-123873580	K562	blood:	n/a	n/a
39	YY1	chr12:123872442-123873252	K562	blood:	n/a	n/a
40	EGR1	chr12:123872957-123873230	GM12878	blood:	n/a	n/a
41	RCOR1	chr12:123872904-123873198	Hela-S3	cervix:	n/a	n/a
42	ELF1	chr12:123872558-123873675	GM12878	blood:	n/a	chr12:123872747-123872758 chr12:123873365-123873377
43	MAZ	chr12:123872947-123875108	IMR90	lung:	n/a	chr12:123874490-123874499
44	ZBTB7A	chr12:123872702-123873761	K562	blood:	n/a	chr12:123873381-123873390
45	JUND	chr12:123872890-123873775	A549	lung:	n/a	n/a
46	EBF1	chr12:123872824-123873364	GM12878	blood:	n/a	n/a
47	POLR2A	chr12:123873084-123874637	NB4	blood:	n/a	n/a
48	POLR2A	chr12:123873017-123873838	MCF-7	breast:	n/a	n/a
49	HCFC1	chr12:123872326-123873166	K562	blood:	n/a	n/a
50	HDAC2	chr12:123872643-123873364	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
2	chr12:123715746..123718967-chr12:123870796..123875270,4	K562	blood:
3	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
4	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
5	chr12:123872223..123875553-chr12:124085591..124088201,3	MCF-7	breast:
6	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
7	chr12:123871392..123873266-chr12:123879118..123880787,2	K562	blood:
8	chr12:123872765..123874584-chr2:91935567..91938569,3	MCF-7	breast:
9	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
10	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
11	chr12:123870684..123873491-chr12:123941342..123943069,2	MCF-7	breast:
12	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
13	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
14	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
15	chr12:123871220..123873431-chr12:123897619..123900288,2	K562	blood:
16	chr12:123872784..123874602-chr17:59484787..59486930,2	MCF-7	breast:
17	chr12:123846590..123852305-chr12:123861449..123873718,39	K562	blood:
18	chr11:45825943..45826929-chr12:123873071..123873715,2	Hela-S3	cervix:
19	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
20	chr12:123872056..123874942-chr12:124085224..124088307,3	MCF-7	breast:
21	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNRNP35-4	chr12:123872989-123873304	NONHSAT031588

No data

Variant related genes	Relation type
SETD8	TF binding region
ENSG00000139697	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000181830	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000232531	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000150977	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
8	esv3388007	chr12:123872699-123875347	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv3407082	chr12:123872824-123875372	Genic enhancers Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	esv3437337	chr12:123872949-123874547	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr12:123872000-123873200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:123872000-123873200	Flanking Active TSS	Dnd41	blood
3	chr12:123872200-123873200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:123872200-123873200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:123872200-123873200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr12:123872200-123873200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:123872200-123873200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:123872200-123873200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:123872200-123873200	Flanking Active TSS	Fetal Brain Male	brain
10	chr12:123872200-123873200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr12:123872200-123873200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr12:123872200-123873200	Flanking Active TSS	Hela-S3	cervix
13	chr12:123872400-123873200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr12:123872400-123873200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:123872400-123873200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:123872400-123873200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:123872400-123873200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:123872400-123873200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:123872400-123873200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:123872400-123873200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:123872400-123873200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr12:123872400-123873200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:123872400-123873200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:123872400-123873200	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr12:123872400-123873200	Flanking Active TSS	Fetal Thymus	thymus
26	chr12:123872400-123873200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr12:123872400-123873200	Flanking Active TSS	HMEC	breast
28	chr12:123872600-123873200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:123872600-123873200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:123872600-123873200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:123872600-123873200	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr12:123872600-123873200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr12:123872600-123873200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr12:123872600-123873200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr12:123872600-123873200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr12:123872600-123873200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr12:123872600-123873200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr12:123872600-123873200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:123872600-123873200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:123872600-123873200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr12:123872600-123873200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:123872600-123873200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:123872600-123873200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr12:123872600-123873200	Flanking Active TSS	Liver	Liver
45	chr12:123872600-123873200	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr12:123872600-123873200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:123872600-123873200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr12:123872600-123873200	Flanking Active TSS	Fetal Lung	lung
49	chr12:123872600-123873200	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr12:123872600-123873200	Flanking Active TSS	Placenta	Placenta

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