Variant report

Variant	rs59918170
Chromosome Location	chr12:122110823-122110824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr12:122110367-122110876	A549	lung:	n/a	n/a
2	KAP1	chr12:122109797-122110835	HEK293	kidney:	n/a	n/a
3	MXI1	chr12:122109738-122111743	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:122110167-122110851	GM12892	blood:	n/a	n/a
5	CREB1	chr12:122110293-122110883	GM12878	blood:	n/a	n/a
6	ZEB1	chr12:122110100-122110826	HepG2	liver:	n/a	chr12:122110470-122110477 chr12:122110480-122110487
7	GABPA	chr12:122110198-122110916	SK-N-SH	brain:	n/a	n/a
8	RUNX3	chr12:122110721-122110976	GM12878	blood:	n/a	n/a
9	FOXA2	chr12:122110436-122110891	A549	lung:	n/a	n/a
10	POLR2A	chr12:122110607-122111367	MCF10A-Er-Src	breast:	n/a	n/a
11	ELF1	chr12:122110262-122110869	GM12878	blood:	n/a	n/a
12	ELF1	chr12:122109956-122110838	GM12878	blood:	n/a	n/a
13	JUND	chr12:122109884-122110825	H1-hESC	embryonic stem cell:	n/a	n/a
14	MTA3	chr12:122109780-122110867	GM12878	blood:	n/a	n/a
15	CREB1	chr12:122110256-122110906	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:122110181-122110837	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:122110359-122110920	PBDE	blood:	n/a	n/a
18	CREB1	chr12:122110455-122110824	A549	lung:	n/a	n/a
19	GABPA	chr12:122110229-122111088	MCF-7	breast:	n/a	n/a
20	GABPA	chr12:122110299-122110829	SK-N-SH	brain:	n/a	n/a
21	GABPA	chr12:122110264-122111064	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122062970..122066467-chr12:122109966..122112755,3	MCF-7	breast:
2	chr12:121986936..121988892-chr12:122109089..122111571,2	MCF-7	breast:
3	chr12:122063149..122066007-chr12:122110767..122112513,2	MCF-7	breast:

No data

Variant related genes	Relation type
MORN3	TF binding region
ENSG00000089094	Chromatin interaction
ENSG00000182500	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11834237	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835830	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578883	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579058	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12579896	1.00[EUR][1000 genomes]
rs12580907	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580910	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077984	1.00[EUR][1000 genomes]
rs55642824	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61324565	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134768	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135040	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299610	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309634	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122103200-122116000	Weak transcription	K562	blood
2	chr12:122109400-122111000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr12:122109400-122111200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr12:122109400-122111200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr12:122109800-122111000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:122109800-122111000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:122109800-122111000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:122109800-122111000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:122109800-122111000	Active TSS	Brain Germinal Matrix	brain
10	chr12:122109800-122111000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:122109800-122111000	Active TSS	Fetal Kidney	kidney
12	chr12:122109800-122111000	Flanking Active TSS	Placenta	Placenta
13	chr12:122109800-122111000	Flanking Active TSS	GM12878-XiMat	blood
14	chr12:122109800-122111200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr12:122109800-122111200	Flanking Active TSS	Dnd41	blood
16	chr12:122109800-122111400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:122110000-122111000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:122110000-122111000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr12:122110000-122111000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:122110000-122111000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:122110000-122111000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:122110000-122111000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr12:122110000-122111000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr12:122110000-122111000	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr12:122110000-122111000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr12:122110000-122111000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:122110000-122111000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr12:122110000-122111000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:122110000-122111000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr12:122110000-122111000	Active TSS	Brain Hippocampus Middle	brain
31	chr12:122110000-122111000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr12:122110000-122111000	Flanking Active TSS	Fetal Thymus	thymus
33	chr12:122110000-122111000	Active TSS	Rectal Smooth Muscle	rectum
34	chr12:122110000-122111000	Active TSS	Right Ventricle	heart
35	chr12:122110000-122111200	Flanking Active TSS	Colonic Mucosa	Colon
36	chr12:122110000-122111400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:122110000-122111400	Enhancers	Spleen	Spleen
38	chr12:122110200-122111000	Flanking Active TSS	Liver	Liver
39	chr12:122110200-122111000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr12:122110200-122111000	Active TSS	Fetal Brain Female	brain
41	chr12:122110200-122111600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:122110400-122111000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr12:122110400-122111000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:122110400-122111000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:122110400-122111000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:122110400-122111000	Active TSS	Brain Cingulate Gyrus	brain
47	chr12:122110400-122111000	Active TSS	Pancreas	Pancrea
48	chr12:122110400-122111000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:122110400-122111000	Active TSS	Osteobl	bone
50	chr12:122110400-122111400	Enhancers	Fetal Heart	heart

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