Variant report

Variant	rs3818714
Chromosome Location	chr10:45432762-45432763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:45432624-45432982	NB4	blood:	n/a	chr10:45432791-45432801 chr10:45432791-45432801 chr10:45432790-45432801 chr10:45432782-45432798 chr10:45432791-45432800
2	MAX	chr10:45432686-45432933	K562	blood:	n/a	chr10:45432791-45432801 chr10:45432791-45432801 chr10:45432790-45432801 chr10:45432782-45432798 chr10:45432791-45432800

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45430656..45433137-chr10:45453264..45455350,2	K562	blood:

Variant related genes	Relation type
ENSG00000223462	TF binding region
ENSG00000107551	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000224812	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10751362	0.89[CHD][hapmap];0.85[JPT][hapmap]
rs10900131	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs10900134	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11239282	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs12356289	0.96[ASN][1000 genomes]
rs17417442	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7095984	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
2	chr10:45427600-45433600	Enhancers	Fetal Muscle Leg	muscle
3	chr10:45427800-45432800	Enhancers	HSMMtube	muscle
4	chr10:45427800-45433200	Enhancers	Adipose Nuclei	Adipose
5	chr10:45427800-45433200	Enhancers	Pancreas	Pancrea
6	chr10:45428000-45432800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr10:45428000-45433000	Enhancers	Fetal Thymus	thymus
8	chr10:45428000-45433200	Enhancers	Fetal Heart	heart
9	chr10:45428000-45433400	Enhancers	Placenta	Placenta
10	chr10:45428000-45436600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr10:45428400-45436800	Enhancers	HepG2	liver
12	chr10:45428800-45433000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:45428800-45435400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:45429800-45433200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:45430000-45433400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:45430600-45433000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr10:45430600-45433000	Enhancers	Brain Substantia Nigra	brain
18	chr10:45431200-45433400	Enhancers	Brain Hippocampus Middle	brain
19	chr10:45431200-45453200	Weak transcription	Gastric	stomach
20	chr10:45431400-45435800	Weak transcription	Liver	Liver
21	chr10:45431600-45434000	Weak transcription	Colonic Mucosa	Colon
22	chr10:45431600-45436000	Weak transcription	Stomach Mucosa	stomach
23	chr10:45431800-45433000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:45432000-45433000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr10:45432000-45434600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr10:45432200-45433000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:45432200-45433200	Weak transcription	Left Ventricle	heart
28	chr10:45432200-45434400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:45432400-45433000	Weak transcription	Brain Anterior Caudate	brain
30	chr10:45432400-45433200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:45432400-45434200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr10:45432400-45434200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr10:45432600-45433200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr10:45432600-45434200	Weak transcription	NHDF-Ad	bronchial

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