Variant report

Variant	rs544938020
Chromosome Location	chr12:12511516-12511517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr12:12510615-12511749	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:12509361-12511865	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:12509442-12511869	GM18505	blood:	n/a	n/a
4	POU2F2	chr12:12511059-12511789	GM12878	blood:	n/a	chr12:12511618-12511633 chr12:12511621-12511632 chr12:12511579-12511601 chr12:12511615-12511637 chr12:12511609-12511623 chr12:12511621-12511631
5	POLR2A	chr12:12511265-12511605	GM12878	blood:	n/a	n/a
6	RELA	chr12:12509504-12511659	GM15510	blood:	n/a	n/a
7	POLR2A	chr12:12509351-12511855	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:12509648-12511661	GM19099	blood:	n/a	n/a
9	EBF1	chr12:12511441-12511757	GM12878	blood:	n/a	n/a
10	MAZ	chr12:12509273-12511643	IMR90	lung:	n/a	chr12:12510147-12510156
11	POLR2A	chr12:12509564-12511516	GM12892	blood:	n/a	n/a
12	TAF1	chr12:12511371-12511673	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:12509571-12511738	GM12878	blood:	n/a	n/a
14	HCFC1	chr12:12509371-12512219	Hela-S3	cervix:	n/a	n/a
15	WRNIP1	chr12:12510502-12511649	GM12878	blood:	n/a	n/a
16	CHD1	chr12:12509523-12511862	GM12878	blood:	n/a	n/a
17	PML	chr12:12509379-12511753	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:12509599-12511716	GM12878	blood:	n/a	n/a
19	MTA3	chr12:12509494-12511654	GM12878	blood:	n/a	n/a
20	RCOR1	chr12:12511497-12511730	K562	blood:	n/a	n/a
21	EBF1	chr12:12511394-12511781	GM12878	blood:	n/a	n/a
22	MXI1	chr12:12509424-12511764	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr12:12509331-12511860	Raji	blood:	n/a	n/a
24	NFYB	chr12:12511419-12511698	GM12878	blood:	n/a	n/a
25	EBF1	chr12:12511429-12511748	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:12509630-12511733	GM12892	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12507773..12511633-chr12:12848137..12852132,5	K562	blood:
2	chr12:12509599..12512153-chr12:12848294..12850312,2	MCF-7	breast:
3	chr12:12510791..12511698-chrX:119797918..119798865,2	Hela-S3	cervix:
4	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
5	chr12:12501083..12504981-chr12:12508403..12511914,10	MCF-7	breast:
6	chr12:12501756..12503820-chr12:12509545..12511706,2	MCF-7	breast:
7	chr12:12505582..12507087-chr12:12510779..12513309,2	MCF-7	breast:
8	chr12:12508678..12514314-chr12:12868637..12874427,7	K562	blood:
9	chr12:12509330..12511597-chr12:12874960..12877485,2	K562	blood:
10	chr12:12505451..12508886-chr12:12510975..12514166,3	K562	blood:
11	chr12:12508799..12512106-chr12:12876417..12880418,4	MCF-7	breast:
12	chr12:12419370..12422118-chr12:12510348..12512093,2	MCF-7	breast:
13	chr12:12509330..12513233-chr12:12874960..12880946,8	K562	blood:
14	chr12:12510495..12512125-chr12:12760276..12763273,2	MCF-7	breast:
15	chr12:12508122..12513324-chr12:12871018..12878415,8	MCF-7	breast:

No data

Variant related genes	Relation type
LOH12CR2	TF binding region
ENSG00000183150	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000178878	Chromatin interaction
ENSG00000111261	Chromatin interaction
ENSG00000111266	Chromatin interaction
ENSG00000070018	Chromatin interaction
ENSG00000111276	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1036040	chr12:12506839-12541869	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1037542	chr12:12506839-12542868	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1045637	chr12:12506839-12546747	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12509400-12511600	Flanking Active TSS	HMEC	breast
2	chr12:12509400-12511800	Active TSS	Right Atrium	heart
3	chr12:12509600-12511600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:12509600-12511600	Active TSS	Aorta	Aorta
5	chr12:12509600-12511600	Active TSS	Brain Angular Gyrus	brain
6	chr12:12509800-12511800	Active TSS	GM12878-XiMat	blood
7	chr12:12509800-12511800	Active TSS	K562	blood
8	chr12:12510000-12511600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:12510200-12511600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:12510400-12511600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr12:12510400-12511600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr12:12510400-12511600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:12510400-12511600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:12510400-12512200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr12:12510600-12511600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:12510600-12511600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:12510600-12511600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:12510600-12511600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr12:12510600-12511600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:12510600-12511600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:12510600-12511800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr12:12510600-12511800	Flanking Active TSS	Fetal Brain Female	brain
23	chr12:12510800-12511600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:12510800-12511600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr12:12510800-12511600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr12:12510800-12511600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr12:12510800-12511600	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr12:12510800-12511600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr12:12510800-12511600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr12:12510800-12511600	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr12:12510800-12511600	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr12:12510800-12511600	Flanking Active TSS	Hela-S3	cervix
33	chr12:12510800-12511800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr12:12510800-12511800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:12510800-12512000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:12510800-12512200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr12:12510800-12512200	Flanking Active TSS	Dnd41	blood
38	chr12:12510800-12515800	Weak transcription	Lung	lung
39	chr12:12510800-12518000	Weak transcription	Gastric	stomach
40	chr12:12510800-12519800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:12510800-12527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:12510800-12528200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:12511000-12511600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:12511000-12511600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr12:12511000-12511600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:12511000-12511600	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr12:12511000-12511600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr12:12511000-12511600	Flanking Active TSS	NHEK	skin
49	chr12:12511000-12511800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr12:12511000-12511800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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