Variant report

Variant	rs563233776
Chromosome Location	chr12:123874860-123874861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 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	POLR2A	chr12:123874056-123875176	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr12:123874824-123875875	HUVEC	blood vessel:	n/a	n/a
6	ZNF263	chr12:123874248-123874989	HEK293-T-REx	kidney:	n/a	n/a
7	POLR2A	chr12:123874759-123875158	K562	blood:	n/a	n/a
8	MAZ	chr12:123872947-123875108	IMR90	lung:	n/a	chr12:123874490-123874499
9	CTCF	chr12:123874860-123875010	HMEC	breast:	n/a	n/a
10	MXI1	chr12:123872709-123875094	IMR90	lung:	n/a	n/a
11	GABPA	chr12:123874053-123874873	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr12:123874154-123874883	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr12:123874542-123874900	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr12:123871971-123875084	K562	blood:	n/a	n/a
15	POLR2A	chr12:123874116-123875878	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr12:123874051-123875076	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr12:123874157-123875850	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr12:123874217-123874977	MCF-7	breast:	n/a	n/a
19	POLR2A	chr12:123874692-123874971	ProgFib	skin:	n/a	n/a
20	POLR2A	chr12:123874101-123875208	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:123874621-123874936	GM12878	blood:	n/a	n/a
22	CTCF	chr12:123874820-123874970	SAEC	small airway:	n/a	n/a
23	SIN3A	chr12:123874101-123874942	H1-hESC	embryonic stem cell:	n/a	chr12:123874340-123874353
24	HMGN3	chr12:123874091-123874885	K562	blood:	n/a	n/a
25	TCF12	chr12:123874350-123874894	ECC-1	luminal epithelium:	n/a	chr12:123874744-123874754 chr12:123874561-123874568
26	HA-E2F1	chr12:123874121-123874988	MCF-7	breast:	n/a	chr12:123874358-123874368
27	POLR2A	chr12:123874144-123875154	K562	blood:	n/a	n/a
28	NR2F2	chr12:123874289-123875121	MCF-7	breast:	n/a	chr12:123874378-123874393
29	MAX	chr12:123874066-123875039	MCF-7	breast:	n/a	chr12:123874490-123874499

No data

(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
ENSG00000051825	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000150977	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
8	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
9	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	chr12:123872800-123875000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr12:123872800-123875000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:123873000-123875000	Active TSS	Brain Hippocampus Middle	brain
4	chr12:123873000-123875000	Active TSS	Gastric	stomach
5	chr12:123873000-123875000	Active TSS	Lung	lung
6	chr12:123873000-123875000	Active TSS	Small Intestine	intestine
7	chr12:123873000-123875000	Active TSS	HSMM	muscle
8	chr12:123873000-123875200	Active TSS	Left Ventricle	heart
9	chr12:123873000-123875200	Active TSS	HSMMtube	muscle
10	chr12:123873000-123875400	Active TSS	Esophagus	oesophagus
11	chr12:123873200-123875000	Active TSS	Right Ventricle	heart
12	chr12:123873200-123875400	Active TSS	Aorta	Aorta
13	chr12:123874000-123875000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:123874000-123875000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr12:123874000-123875400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:123874200-123875000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr12:123874200-123875000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:123874200-123875000	Active TSS	Fetal Kidney	kidney
19	chr12:123874200-123875000	Flanking Active TSS	Placenta	Placenta
20	chr12:123874200-123875200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:123874200-123875200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr12:123874200-123875200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr12:123874200-123875200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr12:123874200-123875400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:123874200-123875400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:123874200-123875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:123874200-123875600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:123874200-123876000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr12:123874200-123876200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr12:123874200-123876800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:123874400-123875000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:123874400-123875000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:123874400-123875000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:123874400-123875000	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr12:123874400-123875000	Flanking Active TSS	Colonic Mucosa	Colon
36	chr12:123874400-123875000	Enhancers	Fetal Brain Male	brain
37	chr12:123874400-123875000	Flanking Active TSS	Fetal Brain Female	brain
38	chr12:123874400-123875000	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr12:123874400-123875000	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr12:123874400-123875200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr12:123874400-123875200	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr12:123874400-123875200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr12:123874400-123875200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr12:123874400-123875400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:123874400-123875400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:123874400-123875400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr12:123874400-123875600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:123874400-123875600	Transcr. at gene 5' and 3'	NHEK	skin
49	chr12:123874400-123875800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:123874400-123875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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