Variant report

Variant	rs2453468
Chromosome Location	chr12:49207176-49207177
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:9)
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	TEAD4	chr12:49207143-49207505	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUN	chr12:49207174-49209894	K562	blood:	n/a	chr12:49208161-49208170 chr12:49207989-49207999 chr12:49207989-49207999
3	EGR1	chr12:49207085-49207542	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr12:49207066-49207631	H1-hESC	embryonic stem cell:	n/a	n/a
5	EGR1	chr12:49207091-49207839	H1-hESC	embryonic stem cell:	n/a	chr12:49207625-49207640
6	YY1	chr12:49207164-49207541	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49203980..49213270-chr12:49239370..49250118,15	MCF-7	breast:
2	chr12:49206889..49209222-chr12:49451651..49454239,2	MCF-7	breast:
3	chr12:49207152..49209169-chr12:49524378..49526009,2	K562	blood:
4	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:
5	chr12:49206322..49209898-chr12:49244293..49247319,5	K562	blood:
6	chr12:49207073..49210037-chr12:49258262..49262278,4	MCF-7	breast:
7	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
8	chr12:49073658..49078597-chr12:49201352..49212442,12	MCF-7	breast:
9	chr12:49193170..49195436-chr12:49204972..49207605,2	MCF-7	breast:

No data

Variant related genes	Relation type
CACNB3	TF binding region
ENSG00000172602	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000257660	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000271547	Chromatin interaction
ENSG00000258017	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10875876	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10875877	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1532365	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2070615	0.83[ASN][1000 genomes]
rs2446989	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2446992	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453469	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2453478	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2453479	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2860360	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926803	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2926804	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3101344	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4760643	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580695	0.91[ASN][1000 genomes]
rs903568	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs931570	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49201200-49207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:49201600-49207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:49203600-49207600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:49204000-49207200	Enhancers	Ovary	ovary
5	chr12:49204000-49207400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:49204200-49207600	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:49204200-49207600	Enhancers	Placenta	Placenta
8	chr12:49204600-49207400	Weak transcription	Spleen	Spleen
9	chr12:49204600-49207600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:49204800-49207200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:49204800-49207800	Weak transcription	Right Atrium	heart
12	chr12:49205000-49207400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:49205000-49207600	Weak transcription	Hela-S3	cervix
14	chr12:49205200-49207400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:49205200-49207800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:49205400-49207200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:49205400-49207200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:49205400-49207400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:49205400-49207400	Weak transcription	Stomach Mucosa	stomach
20	chr12:49205400-49207600	Weak transcription	Esophagus	oesophagus
21	chr12:49205400-49208000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:49205600-49207200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:49205600-49207200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:49205600-49207400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:49205600-49207400	Enhancers	NH-A	brain
26	chr12:49205600-49207600	Weak transcription	Gastric	stomach
27	chr12:49205600-49207600	Weak transcription	HMEC	breast
28	chr12:49205800-49207200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:49205800-49207200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:49205800-49207200	Enhancers	NHLF	lung
31	chr12:49205800-49207200	Enhancers	Osteobl	bone
32	chr12:49205800-49207400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:49205800-49207400	Weak transcription	Fetal Lung	lung
34	chr12:49205800-49207400	Weak transcription	HSMM	muscle
35	chr12:49205800-49207600	Weak transcription	Fetal Intestine Large	intestine
36	chr12:49206000-49207200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr12:49206000-49207600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:49206200-49207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:49206200-49207200	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:49206200-49207400	Weak transcription	Fetal Kidney	kidney
41	chr12:49206200-49207400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:49206200-49207400	Weak transcription	NHDF-Ad	bronchial
43	chr12:49206200-49207600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:49206200-49207600	Weak transcription	HSMMtube	muscle
45	chr12:49206200-49208000	Weak transcription	Lung	lung
46	chr12:49206400-49207200	Weak transcription	Colonic Mucosa	Colon
47	chr12:49206400-49207400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:49206400-49207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:49206400-49207400	Weak transcription	Fetal Intestine Small	intestine
50	chr12:49206400-49207400	Weak transcription	Fetal Stomach	stomach

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