Variant report

Variant	rs10858023
Chromosome Location	chr1:114448752-114448753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:114448294-114448828	K562	blood:	n/a	n/a
2	MXI1	chr1:114446060-114448767	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr1:114446427-114448753	IMR90	lung:	n/a	n/a
4	SRF	chr1:114446421-114448761	MCF-7	breast:	n/a	n/a
5	HCFC1	chr1:114446741-114448776	Hela-S3	cervix:	n/a	n/a
6	SRF	chr1:114446565-114448766	MCF-7	breast:	n/a	n/a
7	GABPA	chr1:114446317-114448796	MCF-7	breast:	n/a	n/a
8	HA-E2F1	chr1:114446733-114449130	MCF-7	breast:	n/a	n/a
9	GATA3	chr1:114446803-114448790	MCF-7	breast:	n/a	chr1:114447173-114447182
10	SIN3AK20	chr1:114445935-114448789	MCF-7	breast:	n/a	n/a
11	SIN3AK20	chr1:114445852-114449210	MCF-7	breast:	n/a	n/a
12	HDAC2	chr1:114445980-114448756	MCF-7	breast:	n/a	n/a
13	ZNF384	chr1:114447145-114449201	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114445859..114448805-chr17:42295421..42298283,3	MCF-7	breast:
2	chr1:113257309..113258998-chr1:114446539..114449479,2	K562	blood:
3	chr1:114352137..114357235-chr1:114445065..114452395,18	MCF-7	breast:
4	chr1:114446374..114449379-chr1:115298741..115300876,3	MCF-7	breast:
5	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:
6	chr1:114353683..114357770-chr1:114446246..114449576,8	K562	blood:
7	chr1:114445068..114448942-chr1:115050232..115055017,4	MCF-7	breast:
8	chr1:114300712..114302958-chr1:114446093..114449659,3	MCF-7	breast:
9	chr1:114352306..114358140-chr1:114445806..114450844,18	MCF-7	breast:
10	chr1:114353620..114357151-chr1:114445438..114449458,6	K562	blood:
11	chr1:114300393..114302237-chr1:114446494..114449478,3	K562	blood:
12	chr1:114363592..114366555-chr1:114447214..114449427,2	MCF-7	breast:
13	chr1:114447178..114448996-chr1:114471115..114472973,22	MCF-7	breast:

No data

Variant related genes	Relation type
AP4B1	TF binding region
ENSG00000009307	Chromatin interaction
ENSG00000197323	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000108312	Chromatin interaction
ENSG00000155367	Chromatin interaction
ENSG00000116793	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000261595	Chromatin interaction
ENSG00000163349	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10745340	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10776775	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10858022	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11102701	0.81[AFR][1000 genomes]
rs1217392	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3789613	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6661817	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7523862	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7524200	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10858023	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114445600-114449800	Active TSS	GM12878-XiMat	blood
2	chr1:114446200-114448800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:114446200-114449000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:114446200-114449600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:114446400-114449200	Active TSS	A549	lung
6	chr1:114446400-114449600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:114446600-114448800	Active TSS	NHDF-Ad	bronchial
8	chr1:114446600-114449400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:114446800-114448800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:114446800-114448800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:114446800-114448800	Active TSS	Fetal Stomach	stomach
12	chr1:114446800-114449000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:114446800-114449000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:114446800-114449000	Active TSS	NHLF	lung
15	chr1:114447000-114448800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:114447000-114448800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:114447000-114449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr1:114447000-114449000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:114447000-114449200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:114447000-114449400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:114447000-114449400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:114447200-114448800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:114447200-114448800	Active TSS	Fetal Kidney	kidney
24	chr1:114447200-114448800	Active TSS	Placenta	Placenta
25	chr1:114447200-114448800	Active TSS	Dnd41	blood
26	chr1:114447200-114449000	Active TSS	Muscle Satellite Cultured Cells	--
27	chr1:114447200-114449000	Active TSS	Hela-S3	cervix
28	chr1:114447200-114449000	Active TSS	HMEC	breast
29	chr1:114447200-114449200	Active TSS	HSMM	muscle
30	chr1:114447200-114449400	Active TSS	K562	blood
31	chr1:114447200-114449600	Active TSS	Colon Smooth Muscle	Colon
32	chr1:114447400-114448800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:114448000-114448800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr1:114448000-114448800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:114448000-114449200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr1:114448200-114448800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr1:114448200-114448800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr1:114448200-114448800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:114448200-114448800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr1:114448200-114448800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:114448200-114448800	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr1:114448200-114448800	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr1:114448200-114448800	Flanking Active TSS	HUVEC	blood vessel
44	chr1:114448200-114448800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr1:114448400-114448800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr1:114448400-114448800	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr1:114448400-114448800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:114448400-114448800	Weak transcription	Spleen	Spleen
49	chr1:114448400-114448800	Flanking Active TSS	NHEK	skin
50	chr1:114448400-114449000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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