Variant report

Variant	rs117885828
Chromosome Location	chr12:123874585-123874586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:123872542-123875203	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:123874126-123874907	Hela-S3	cervix:	n/a	n/a
3	SIN3AK20	chr12:123874119-123875194	MCF-7	breast:	n/a	n/a
4	MYBL2	chr12:123874311-123874621	HepG2	liver:	n/a	n/a
5	RAD21	chr12:123874411-123874597	HepG2	liver:	n/a	n/a
6	YY1	chr12:123873853-123874593	HepG2	liver:	n/a	chr12:123874360-123874374 chr12:123874363-123874377
7	TAF1	chr12:123874201-123874670	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:123874056-123875176	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr12:123874167-123874634	Hela-S3	cervix:	n/a	n/a
10	RUNX3	chr12:123874238-123874642	GM12878	blood:	n/a	n/a
11	MAX	chr12:123874281-123874601	HepG2	liver:	n/a	chr12:123874490-123874499
12	UBTF	chr12:123872089-123874739	K562	blood:	n/a	n/a
13	POLR2A	chr12:123874203-123874587	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr12:123874202-123874590	HepG2	liver:	n/a	n/a
15	ZNF263	chr12:123874248-123874989	HEK293-T-REx	kidney:	n/a	n/a
16	ELF1	chr12:123873977-123874813	GM12878	blood:	n/a	n/a
17	MAZ	chr12:123872947-123875108	IMR90	lung:	n/a	chr12:123874490-123874499
18	POLR2A	chr12:123873084-123874637	NB4	blood:	n/a	n/a
19	SIN3AK20	chr12:123874270-123874593	HepG2	liver:	n/a	n/a
20	MAX	chr12:123873953-123874703	A549	lung:	n/a	chr12:123874490-123874499
21	POLR2A	chr12:123872536-123874596	GM18505	blood:	n/a	n/a
22	ZBTB7A	chr12:123874024-123874590	K562	blood:	n/a	n/a
23	MXI1	chr12:123872709-123875094	IMR90	lung:	n/a	n/a
24	GABPA	chr12:123874053-123874873	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr12:123874154-123874883	ECC-1	luminal epithelium:	n/a	n/a
26	ZBTB7A	chr12:123874042-123874752	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr12:123874200-123874721	K562	blood:	n/a	n/a
28	POLR2A	chr12:123874542-123874900	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr12:123874095-123874767	ECC-1	luminal epithelium:	n/a	chr12:123874490-123874499
30	POLR2A	chr12:123871971-123875084	K562	blood:	n/a	n/a
31	POLR2A	chr12:123874151-123874648	ECC-1	luminal epithelium:	n/a	n/a
32	MXI1	chr12:123874042-123874638	HepG2	liver:	n/a	n/a
33	POLR2A	chr12:123872531-123874590	GM18951	blood:	n/a	n/a
34	MAX	chr12:123874103-123874671	H1-hESC	embryonic stem cell:	n/a	chr12:123874490-123874499
35	POLR2A	chr12:123874103-123874657	ProgFib	skin:	n/a	n/a
36	SIN3AK20	chr12:123873951-123874668	K562	blood:	n/a	n/a
37	POLR2A	chr12:123874116-123875878	HUVEC	blood vessel:	n/a	n/a
38	HEY1	chr12:123874159-123874723	HepG2	liver:	n/a	chr12:123874426-123874441
39	POLR2A	chr12:123873969-123874844	GM12892	blood:	n/a	n/a
40	POLR2A	chr12:123874249-123874794	MCF-7	breast:	n/a	n/a
41	MAX	chr12:123874047-123874615	ECC-1	luminal epithelium:	n/a	chr12:123874490-123874499
42	MAX	chr12:123874019-123874679	A549	lung:	n/a	chr12:123874490-123874499
43	POLR2A	chr12:123874051-123875076	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr12:123873987-123874789	GM12878	blood:	n/a	n/a
45	UBTF	chr12:123874118-123874858	K562	blood:	n/a	n/a
46	POLR2A	chr12:123874012-123874598	A549	lung:	n/a	n/a
47	POLR2A	chr12:123874157-123875850	HUVEC	blood vessel:	n/a	n/a
48	CCNT2	chr12:123872168-123874833	K562	blood:	n/a	n/a
49	POLR2A	chr12:123874217-123874977	MCF-7	breast:	n/a	n/a
50	MYC	chr12:123874404-123874609	MCF-7	breast:	n/a	chr12:123874490-123874499

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123873719..123876506-chr12:124067448..124069174,2	K562	blood:
2	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
3	chr12:123715746..123718967-chr12:123870796..123875270,4	K562	blood:
4	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
5	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
6	chr12:123872223..123875553-chr12:124085591..124088201,3	MCF-7	breast:
7	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
8	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
9	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
10	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
11	chr12:123873193..123874940-chr12:123942406..123944140,2	K562	blood:
12	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
13	chr12:123873866..123876385-chr12:123942538..123944226,2	MCF-7	breast:
14	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
15	chr12:123872784..123874602-chr17:59484787..59486930,2	MCF-7	breast:
16	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
17	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
18	chr12:123872056..123874942-chr12:124085224..124088307,3	MCF-7	breast:
19	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:

No data

Variant related genes	Relation type
SETD8	TF binding region
ENSG00000247373	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000150977	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000184209	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	esv7028	chr12:123874023-123879670	Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 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	chr12:123872800-123874800	Active TSS	Right Atrium	heart
2	chr12:123872800-123875000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:123872800-123875000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:123873000-123874600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr12:123873000-123874600	Active TSS	Brain Angular Gyrus	brain
6	chr12:123873000-123874600	Weak transcription	Fetal Heart	heart
7	chr12:123873000-123874600	Active TSS	Psoas Muscle	Psoas
8	chr12:123873000-123874600	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr12:123873000-123874600	Active TSS	Rectal Smooth Muscle	rectum
10	chr12:123873000-123874600	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr12:123873000-123874600	Active TSS	A549	lung
12	chr12:123873000-123874600	Active TSS	HepG2	liver
13	chr12:123873000-123874800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:123873000-123874800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:123873000-123874800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:123873000-123874800	Active TSS	Osteobl	bone
17	chr12:123873000-123875000	Active TSS	Brain Hippocampus Middle	brain
18	chr12:123873000-123875000	Active TSS	Gastric	stomach
19	chr12:123873000-123875000	Active TSS	Lung	lung
20	chr12:123873000-123875000	Active TSS	Small Intestine	intestine
21	chr12:123873000-123875000	Active TSS	HSMM	muscle
22	chr12:123873000-123875200	Active TSS	Left Ventricle	heart
23	chr12:123873000-123875200	Active TSS	HSMMtube	muscle
24	chr12:123873000-123875400	Active TSS	Esophagus	oesophagus
25	chr12:123873200-123874600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr12:123873200-123874600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:123873200-123874600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:123873200-123874600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:123873200-123874600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:123873200-123874600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:123873200-123874600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:123873200-123874600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:123873200-123874600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:123873200-123874600	Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:123873200-123874600	Active TSS	Duodenum Mucosa	Duodenum
36	chr12:123873200-123874600	Active TSS	Pancreas	Pancrea
37	chr12:123873200-123874600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr12:123873200-123874600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:123873200-123874600	Active TSS	Hela-S3	cervix
40	chr12:123873200-123874600	Active TSS	HMEC	breast
41	chr12:123873200-123874600	Active TSS	HUVEC	blood vessel
42	chr12:123873200-123874600	Active TSS	K562	blood
43	chr12:123873200-123874600	Active TSS	NHLF	lung
44	chr12:123873200-123874800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:123873200-123874800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:123873200-123874800	Active TSS	Ovary	ovary
47	chr12:123873200-123874800	Active TSS	NH-A	brain
48	chr12:123873200-123875000	Active TSS	Right Ventricle	heart
49	chr12:123873200-123875400	Active TSS	Aorta	Aorta
50	chr12:123874000-123874600	Active TSS	Primary T cells from cord blood	blood

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