Variant report

Variant	rs550861359
Chromosome Location	chr12:123875488-123875489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:123875420-123875856	HL-60	blood:	n/a	n/a
2	POLR2A	chr12:123874824-123875875	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:123874116-123875878	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:123875389-123875558	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:123874157-123875850	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:123875436-123875652	K562	blood:	n/a	n/a
7	POLR2A	chr12:123875442-123875915	HUVEC	blood vessel:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123873719..123876506-chr12:124067448..124069174,2	K562	blood:
2	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
3	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
4	chr12:123872223..123875553-chr12:124085591..124088201,3	MCF-7	breast:
5	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
6	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
7	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
8	chr12:123873866..123876385-chr12:123942538..123944226,2	MCF-7	breast:
9	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
10	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
11	chr12:123847748..123850760-chr12:123875045..123877875,5	MCF-7	breast:
12	chr12:123874611..123876401-chr12:123967217..123969868,2	K562	blood:

No data

Variant related genes	Relation type
SETD8	TF binding region
ENSG00000086598	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000150977	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000111364	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	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
7	esv2417445	chr12:123875177-123879748	Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
8	esv3449892	chr12:123875199-123879684	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	esv8369	chr12:123875230-123879694	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	esv3414733	chr12:123875275-123879643	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123874200-123875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:123874200-123875600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:123874200-123876000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr12:123874200-123876200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:123874200-123876800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:123874400-123875600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:123874400-123875600	Transcr. at gene 5' and 3'	NHEK	skin
8	chr12:123874400-123875800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:123874400-123875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:123874600-123875600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:123874600-123875600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:123874600-123875600	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr12:123874600-123875600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
14	chr12:123874600-123875600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
15	chr12:123874600-123875600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
16	chr12:123874600-123875600	Transcr. at gene 5' and 3'	NHLF	lung
17	chr12:123874800-123875600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:123874800-123875600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
19	chr12:123874800-123875600	Genic enhancers	Fetal Thymus	thymus
20	chr12:123874800-123875600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
21	chr12:123874800-123875800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:123874800-123876400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:123875000-123875600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:123875000-123875600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:123875000-123875600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr12:123875000-123875600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:123875000-123875600	Weak transcription	Fetal Brain Male	brain
28	chr12:123875000-123875600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
29	chr12:123875000-123875600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr12:123875000-123875600	Genic enhancers	A549	lung
31	chr12:123875000-123875600	Transcr. at gene 5' and 3'	HMEC	breast
32	chr12:123875000-123875800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:123875000-123875800	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr12:123875000-123876200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:123875000-123876200	Genic enhancers	Fetal Lung	lung
36	chr12:123875000-123876200	Weak transcription	Small Intestine	intestine
37	chr12:123875000-123876800	Genic enhancers	Stomach Mucosa	stomach
38	chr12:123875000-123877400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:123875000-123878000	Genic enhancers	Dnd41	blood
40	chr12:123875000-123879000	Weak transcription	Ovary	ovary
41	chr12:123875000-123879200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:123875000-123881000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:123875000-123884400	Strong transcription	Thymus	Thymus
44	chr12:123875000-123886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:123875200-123875600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:123875200-123875600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:123875200-123875600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:123875200-123875600	Weak transcription	Brain Germinal Matrix	brain
49	chr12:123875200-123875600	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
50	chr12:123875200-123875600	Enhancers	Psoas Muscle	Psoas

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