Variant report

Variant	rs10745999
Chromosome Location	chr12:104675227-104675228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:104673768-104675257	HCT-116	colon:	n/a	n/a
2	ZNF384	chr12:104674446-104675253	K562	blood:	n/a	n/a
3	TEAD4	chr12:104674430-104675272	A549	lung:	n/a	n/a
4	SIX5	chr12:104674116-104675273	A549	lung:	n/a	n/a
5	FOSL2	chr12:104673783-104675306	A549	lung:	n/a	n/a
6	EP300	chr12:104674070-104675298	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr12:104673777-104675238	A549	lung:	n/a	n/a
8	GATA3	chr12:104674203-104675232	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:104632076..104633977-chr12:104674539..104676699,2	K562	blood:
2	chr12:104673431..104677021-chr12:104679201..104682284,5	MCF-7	breast:
3	chr12:104617675..104620122-chr12:104673280..104676243,2	K562	blood:

No data

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000257732	TF binding region
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10735393	0.90[ASN][1000 genomes]
rs10735394	0.91[ASN][1000 genomes]
rs10778323	0.83[ASN][1000 genomes]
rs12318033	0.81[AFR][1000 genomes]
rs4477504	0.86[ASN][1000 genomes]
rs4964769	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4964781	0.84[ASN][1000 genomes]
rs6539138	0.82[ASN][1000 genomes]
rs7316394	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104667600-104679600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:104670400-104679600	Weak transcription	Thymus	Thymus
3	chr12:104670600-104679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:104670600-104679800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:104673000-104676200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:104673200-104676400	Enhancers	HMEC	breast
7	chr12:104673800-104676800	Enhancers	K562	blood
8	chr12:104674400-104676400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:104674400-104679800	Weak transcription	Small Intestine	intestine
10	chr12:104674600-104675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:104674600-104675600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:104674600-104676000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:104674600-104676000	Enhancers	A549	lung
14	chr12:104674600-104676400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:104674600-104676400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:104674600-104676400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:104674600-104676400	Enhancers	HUVEC	blood vessel
18	chr12:104674600-104676400	Enhancers	NHDF-Ad	bronchial
19	chr12:104674600-104676400	Enhancers	NHEK	skin
20	chr12:104674600-104676600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:104674600-104676600	Enhancers	NHLF	lung
22	chr12:104674600-104676600	Enhancers	Osteobl	bone
23	chr12:104674600-104677200	Enhancers	Hela-S3	cervix
24	chr12:104674600-104677800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:104674600-104678000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:104674600-104679400	Weak transcription	HSMMtube	muscle
27	chr12:104674600-104679600	Weak transcription	Aorta	Aorta
28	chr12:104674600-104679600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:104674600-104679600	Weak transcription	HepG2	liver
30	chr12:104674600-104679600	Weak transcription	HSMM	muscle
31	chr12:104674800-104679600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:104675000-104676000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:104675000-104676600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:104675000-104679400	Weak transcription	Stomach Mucosa	stomach
35	chr12:104675000-104679600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr12:104675200-104676200	Enhancers	NH-A	brain

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