Variant report

Variant	rs839355
Chromosome Location	chr12:123260285-123260286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:123260043-123260379	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:123260050-123260379	A549	lung:	n/a	n/a
3	CEBPB	chr12:123260041-123260327	MCF-7	breast:	n/a	n/a
4	CEBPB	chr12:123260121-123260295	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:123260075-123260330	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr12:123260152-123260344	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123257747..123262116-chr12:123318149..123321331,4	MCF-7	breast:
2	chr12:123259286..123261214-chr12:123265092..123266921,2	K562	blood:
3	chr12:123236169..123239442-chr12:123257222..123260625,5	MCF-7	breast:
4	chr12:123258957..123263504-chr12:123263837..123267205,4	MCF-7	breast:
5	chr12:123237047..123238591-chr12:123260117..123262798,2	K562	blood:

No data

Variant related genes	Relation type
CCDC62	TF binding region
ENSG00000139726	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000130783	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11059729	1.00[ASN][1000 genomes]
rs1260121	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696355	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798563	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975761	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649894	0.87[ASN][1000 genomes]
rs2649895	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649896	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649900	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649903	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649914	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656812	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548349	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651683	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839354	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839356	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839357	1.00[ASN][1000 genomes]
rs839362	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123253600-123265200	Weak transcription	K562	blood
2	chr12:123258600-123262200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:123258800-123261600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:123258800-123262200	Weak transcription	Dnd41	blood
5	chr12:123259400-123262000	Weak transcription	HSMM	muscle
6	chr12:123259400-123265000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:123259400-123266600	Weak transcription	Spleen	Spleen
8	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
9	chr12:123259800-123260400	Flanking Active TSS	HepG2	liver
10	chr12:123259800-123262800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:123259800-123266200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:123259800-123285800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
14	chr12:123260000-123260400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:123260000-123260400	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:123260000-123260400	Enhancers	Placenta	Placenta
17	chr12:123260000-123260400	Enhancers	Pancreas	Pancrea
18	chr12:123260000-123260400	Enhancers	Stomach Mucosa	stomach
19	chr12:123260000-123262800	Weak transcription	Right Atrium	heart
20	chr12:123260000-123263000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:123260000-123263400	Weak transcription	Thymus	Thymus
22	chr12:123260000-123263800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:123260000-123264200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:123260000-123265400	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:123260000-123265600	Weak transcription	Right Ventricle	heart
26	chr12:123260000-123267200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:123260000-123267200	Weak transcription	Fetal Brain Male	brain
28	chr12:123260000-123268000	Weak transcription	Ovary	ovary
29	chr12:123260000-123268400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:123260000-123272600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:123260000-123272800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:123260000-123275200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:123260000-123278400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:123260000-123278400	Weak transcription	Brain Angular Gyrus	brain
35	chr12:123260000-123278400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:123260000-123278400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:123260000-123303600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:123260200-123260400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:123260200-123260400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:123260200-123260400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:123260200-123260400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:123260200-123260400	Enhancers	Psoas Muscle	Psoas
43	chr12:123260200-123260400	Enhancers	A549	lung
44	chr12:123260200-123262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:123260200-123262200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:123260200-123262200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:123260200-123263200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:123260200-123264200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:123260200-123264200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:123260200-123264200	Weak transcription	Fetal Muscle Leg	muscle

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