Variant report

Variant	rs183149628
Chromosome Location	chr12:123874713-123874714
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

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	CTCF	chr12:123874600-123874750	MCF-7	breast:	n/a	n/a
5	POLR2A	chr12:123874056-123875176	SK-N-MC	brain:	n/a	n/a
6	UBTF	chr12:123872089-123874739	K562	blood:	n/a	n/a
7	ZNF263	chr12:123874248-123874989	HEK293-T-REx	kidney:	n/a	n/a
8	ELF1	chr12:123873977-123874813	GM12878	blood:	n/a	n/a
9	MAZ	chr12:123872947-123875108	IMR90	lung:	n/a	chr12:123874490-123874499
10	RAD21	chr12:123874684-123874766	IMR90	lung:	n/a	n/a
11	MXI1	chr12:123872709-123875094	IMR90	lung:	n/a	n/a
12	GABPA	chr12:123874053-123874873	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr12:123874154-123874883	ECC-1	luminal epithelium:	n/a	n/a
14	ZBTB7A	chr12:123874042-123874752	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr12:123874200-123874721	K562	blood:	n/a	n/a
16	POLR2A	chr12:123874542-123874900	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr12:123874095-123874767	ECC-1	luminal epithelium:	n/a	chr12:123874490-123874499
18	POLR2A	chr12:123871971-123875084	K562	blood:	n/a	n/a
19	POLR2A	chr12:123874116-123875878	HUVEC	blood vessel:	n/a	n/a
20	HEY1	chr12:123874159-123874723	HepG2	liver:	n/a	chr12:123874426-123874441
21	POLR2A	chr12:123873969-123874844	GM12892	blood:	n/a	n/a
22	POLR2A	chr12:123874249-123874794	MCF-7	breast:	n/a	n/a
23	POLR2A	chr12:123874051-123875076	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr12:123873987-123874789	GM12878	blood:	n/a	n/a
25	UBTF	chr12:123874118-123874858	K562	blood:	n/a	n/a
26	POLR2A	chr12:123874157-123875850	HUVEC	blood vessel:	n/a	n/a
27	CCNT2	chr12:123872168-123874833	K562	blood:	n/a	n/a
28	POLR2A	chr12:123874217-123874977	MCF-7	breast:	n/a	n/a
29	RCOR1	chr12:123874486-123874788	K562	blood:	n/a	n/a
30	POLR2A	chr12:123874692-123874971	ProgFib	skin:	n/a	n/a
31	POLR2A	chr12:123874101-123875208	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:123874281-123874732	K562	blood:	n/a	n/a
33	POLR2A	chr12:123874621-123874936	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:123874077-123874776	HUVEC	blood vessel:	n/a	n/a
35	SIN3A	chr12:123874101-123874942	H1-hESC	embryonic stem cell:	n/a	chr12:123874340-123874353
36	HMGN3	chr12:123874091-123874885	K562	blood:	n/a	n/a
37	POLR2A	chr12:123874111-123874787	MCF-7	breast:	n/a	n/a
38	POLR2A	chr12:123874202-123874787	HepG2	liver:	n/a	n/a
39	TCF12	chr12:123874350-123874894	ECC-1	luminal epithelium:	n/a	chr12:123874744-123874754 chr12:123874561-123874568
40	HA-E2F1	chr12:123874121-123874988	MCF-7	breast:	n/a	chr12:123874358-123874368
41	POLR2A	chr12:123874144-123875154	K562	blood:	n/a	n/a
42	NR2F2	chr12:123874289-123875121	MCF-7	breast:	n/a	chr12:123874378-123874393
43	GABPA	chr12:123874155-123874803	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:123874200-123874774	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:123873990-123874804	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:123874188-123874765	HepG2	liver:	n/a	n/a
47	MAX	chr12:123874066-123875039	MCF-7	breast:	n/a	chr12:123874490-123874499

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123874707-123874757	AG04450	lung:	fetal
2	chr12:123874707-123874757	H1-hESC	embryonic stem cell:	embryo
3	chr12:123874707-123874757	GM12892	blood:	n/a
4	chr12:123874707-123874757	Hela-S3	cervix:	n/a
5	chr12:123874707-123874757	A549	lung:	n/a
6	chr12:123874707-123874757	HUVEC	blood vessel:	n/a
7	chr12:123874707-123874757	GM06990	blood:	n/a
8	chr12:123874707-123874757	PFSK-1	brain:	n/a
9	chr12:123874707-123874757	HepG2	liver:	n/a
10	chr12:123874707-123874757	HRE	kidney:	n/a
11	chr12:123874707-123874757	NT2-D1	testis:	n/a
12	chr12:123874707-123874757	U87	brain:	n/a
13	chr12:123874707-123874757	ProgFib	skin:	n/a
14	chr12:123874707-123874757	Hepatocyte	liver:	n/a
15	chr12:123874707-123874757	RPTEC	kidney:	n/a
16	chr12:123874707-123874757	HNPCEpiC	eye:	n/a
17	chr12:123874707-123874757	ECC-1	luminal epithelium:	n/a
18	chr12:123874707-123874757	HEEpiC	esophagus:	n/a
19	chr12:123874707-123874757	HCT-116	colon:	n/a
20	chr12:123874707-123874757	HMEC	breast:	n/a
21	chr12:123874707-123874757	HRCEpiC	kidney:	n/a
22	chr12:123874707-123874757	BJ	skin:	n/a
23	chr12:123874707-123874757	SK-N-SH	brain:	n/a
24	chr12:123874707-123874757	GM19239	blood:	n/a
25	chr12:123874707-123874757	HL-60	blood:	n/a
26	chr12:123874707-123874757	HCF	heart:	n/a
27	chr12:123874707-123874757	T-47D	breast:	n/a
28	chr12:123874707-123874757	AG09319	gingival:	n/a
29	chr12:123874707-123874757	Jurkat	blood:	n/a
30	chr12:123874707-123874757	AG10803	skin:	n/a
31	chr12:123874707-123874757	HCM	heart:	n/a
32	chr12:123874707-123874757	IMR90	lung:	fetal
33	chr12:123874707-123874757	K562	blood:	n/a
34	chr12:123874707-123874757	AG09309	skin:	n/a
35	chr12:123874707-123874757	HRPEpiC	eye:	n/a
36	chr12:123874707-123874757	MCF-7	breast:	n/a
37	chr12:123874707-123874757	AG04449	skin:	fetal
38	chr12:123874707-123874757	NB4	blood:	n/a
39	chr12:123874707-123874757	HCPEpiC	choroid plexus:	n/a
40	chr12:123874707-123874757	CMK	blood:	n/a
41	chr12:123874707-123874757	NHDF-neo	bronchial:	n/a
42	chr12:123874707-123874757	BE2_C	brain:	n/a
43	chr12:123874707-123874757	AoSMC	blood vessel:	n/a
44	chr12:123874707-123874757	SKMC	muscle:	n/a
45	chr12:123874707-123874757	NH-A	brain:	n/a
46	chr12:123874707-123874757	NHBE	bronchial:	n/a
47	chr12:123874707-123874757	PrEC	prostate:	n/a
48	chr12:123874707-123874757	GM12891	blood:	n/a
49	chr12:123874707-123874757	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:123874707-123874757	Caco-2	colon:	n/a

(count:18 , 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	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
15	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
16	chr12:123872056..123874942-chr12:124085224..124088307,3	MCF-7	breast:
17	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
18	chr12:123874611..123876401-chr12:123967217..123969868,2	K562	blood:

No data

Variant related genes	Relation type
SETD8	TF binding region
SETD8	CpG island
ENSG00000188026	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000150977	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000086598	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	chr12:123873000-123874800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:123873000-123874800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123873000-123874800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:123873000-123874800	Active TSS	Osteobl	bone
8	chr12:123873000-123875000	Active TSS	Brain Hippocampus Middle	brain
9	chr12:123873000-123875000	Active TSS	Gastric	stomach
10	chr12:123873000-123875000	Active TSS	Lung	lung
11	chr12:123873000-123875000	Active TSS	Small Intestine	intestine
12	chr12:123873000-123875000	Active TSS	HSMM	muscle
13	chr12:123873000-123875200	Active TSS	Left Ventricle	heart
14	chr12:123873000-123875200	Active TSS	HSMMtube	muscle
15	chr12:123873000-123875400	Active TSS	Esophagus	oesophagus
16	chr12:123873200-123874800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:123873200-123874800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:123873200-123874800	Active TSS	Ovary	ovary
19	chr12:123873200-123874800	Active TSS	NH-A	brain
20	chr12:123873200-123875000	Active TSS	Right Ventricle	heart
21	chr12:123873200-123875400	Active TSS	Aorta	Aorta
22	chr12:123874000-123874800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:123874000-123874800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr12:123874000-123875000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:123874000-123875000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:123874000-123875400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr12:123874200-123874800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:123874200-123874800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:123874200-123874800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr12:123874200-123874800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr12:123874200-123874800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr12:123874200-123874800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr12:123874200-123874800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:123874200-123874800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:123874200-123874800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
36	chr12:123874200-123874800	Flanking Active TSS	Spleen	Spleen
37	chr12:123874200-123874800	Active TSS	NHDF-Ad	bronchial
38	chr12:123874200-123875000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:123874200-123875000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:123874200-123875000	Active TSS	Fetal Kidney	kidney
41	chr12:123874200-123875000	Flanking Active TSS	Placenta	Placenta
42	chr12:123874200-123875200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:123874200-123875200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:123874200-123875200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr12:123874200-123875200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr12:123874200-123875400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr12:123874200-123875400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:123874200-123875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:123874200-123875600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:123874200-123876000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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