Variant report

Variant	rs561567780
Chromosome Location	chr12:123875015-123875016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 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	SIN3AK20	chr12:123874119-123875194	MCF-7	breast:	n/a	n/a
3	POLR2A	chr12:123874056-123875176	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr12:123874909-123875430	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:123874824-123875875	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:123874759-123875158	K562	blood:	n/a	n/a
7	MAZ	chr12:123872947-123875108	IMR90	lung:	n/a	chr12:123874490-123874499
8	MXI1	chr12:123872709-123875094	IMR90	lung:	n/a	n/a
9	POLR2A	chr12:123871971-123875084	K562	blood:	n/a	n/a
10	CTCF	chr12:123874880-123875030	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr12:123874116-123875878	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr12:123874051-123875076	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr12:123874157-123875850	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr12:123874101-123875208	GM12878	blood:	n/a	n/a
15	CTCF	chr12:123875000-123875150	HRPEpiC	eye:	n/a	n/a
16	POLR2A	chr12:123874144-123875154	K562	blood:	n/a	n/a
17	NR2F2	chr12:123874289-123875121	MCF-7	breast:	n/a	chr12:123874378-123874393
18	MAX	chr12:123874066-123875039	MCF-7	breast:	n/a	chr12:123874490-123874499

No data

(count:15 , 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	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
10	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
11	chr12:123873866..123876385-chr12:123942538..123944226,2	MCF-7	breast:
12	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
13	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
14	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
15	chr12:123874611..123876401-chr12:123967217..123969868,2	K562	blood:

No data

Variant related genes	Relation type
SETD8	TF binding region
ENSG00000184209	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000150977	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000188026	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	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
10	nsv976671	chr12:123874923-123875423	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123873000-123875200	Active TSS	Left Ventricle	heart
2	chr12:123873000-123875200	Active TSS	HSMMtube	muscle
3	chr12:123873000-123875400	Active TSS	Esophagus	oesophagus
4	chr12:123873200-123875400	Active TSS	Aorta	Aorta
5	chr12:123874000-123875400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr12:123874200-123875200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:123874200-123875200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:123874200-123875200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr12:123874200-123875200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr12:123874200-123875400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr12:123874200-123875400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:123874200-123875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:123874200-123875600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:123874200-123876000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr12:123874200-123876200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:123874200-123876800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:123874400-123875200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr12:123874400-123875200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr12:123874400-123875200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:123874400-123875200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr12:123874400-123875400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:123874400-123875400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:123874400-123875400	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr12:123874400-123875600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:123874400-123875600	Transcr. at gene 5' and 3'	NHEK	skin
26	chr12:123874400-123875800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:123874400-123875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:123874600-123875200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:123874600-123875200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:123874600-123875200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
31	chr12:123874600-123875200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:123874600-123875200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
33	chr12:123874600-123875200	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
34	chr12:123874600-123875200	Flanking Active TSS	Psoas Muscle	Psoas
35	chr12:123874600-123875200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:123874600-123875200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr12:123874600-123875200	Flanking Active TSS	HepG2	liver
38	chr12:123874600-123875400	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr12:123874600-123875400	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr12:123874600-123875400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr12:123874600-123875400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:123874600-123875400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr12:123874600-123875400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr12:123874600-123875400	Flanking Active TSS	HUVEC	blood vessel
45	chr12:123874600-123875600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:123874600-123875600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:123874600-123875600	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr12:123874600-123875600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
49	chr12:123874600-123875600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
50	chr12:123874600-123875600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle

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