Variant report

Variant	rs10858024
Chromosome Location	chr1:114457769-114457770
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114457021..114458592-chr11:59578059..59579720,2	MCF-7	breast:
2	chr1:114456138..114457915-chr1:114466336..114468126,2	K562	blood:
3	chr1:114352806..114355231-chr1:114456567..114458602,3	K562	blood:
4	chr1:114300624..114304255-chr1:114455595..114460440,4	K562	blood:
5	chr1:114455126..114458709-chr1:114488876..114491433,3	K562	blood:
6	chr1:114453526..114463040-chr1:114468902..114474133,15	K562	blood:

Variant related genes	Relation type
ENSG00000163349	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000166902	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000116793	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10732635	0.83[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11811771	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36064592	0.88[AFR][1000 genomes]
rs6673273	0.88[AFR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10858024	DCLRE1B	cis	multi-tissue	Pritchard
rs10858024	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114448600-114461400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:114449200-114461800	Weak transcription	Fetal Brain Male	brain
3	chr1:114449600-114458000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:114449800-114470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:114454200-114458200	Weak transcription	HUVEC	blood vessel
6	chr1:114454200-114459000	Weak transcription	Esophagus	oesophagus
7	chr1:114454400-114458200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:114454600-114461000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:114455000-114458800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:114455000-114459800	Weak transcription	HMEC	breast
11	chr1:114455000-114460000	Weak transcription	NHEK	skin
12	chr1:114455200-114459400	Weak transcription	Placenta	Placenta
13	chr1:114455400-114457800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:114455400-114459000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:114455400-114460200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:114455600-114458800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:114455600-114459000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:114455600-114461800	Weak transcription	NH-A	brain
19	chr1:114455800-114457800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:114455800-114458400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:114455800-114458600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:114455800-114459600	Weak transcription	Brain Germinal Matrix	brain
23	chr1:114455800-114465400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:114456000-114457800	Weak transcription	Spleen	Spleen
25	chr1:114456000-114459200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:114456000-114459400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:114456000-114460400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:114456000-114460600	Weak transcription	Aorta	Aorta
29	chr1:114456000-114460600	Weak transcription	Fetal Lung	lung
30	chr1:114456000-114462200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:114456000-114462800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:114456000-114463600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:114456200-114457800	Weak transcription	Fetal Brain Female	brain
34	chr1:114456200-114458400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:114456200-114458600	Weak transcription	HepG2	liver
36	chr1:114456200-114458800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:114456200-114459200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:114456200-114459200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:114456200-114459200	Weak transcription	Osteobl	bone
40	chr1:114456200-114460000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:114456200-114460200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:114456200-114460600	Weak transcription	Fetal Intestine Small	intestine
43	chr1:114456200-114460600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:114456200-114460800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:114456200-114460800	Weak transcription	Dnd41	blood
46	chr1:114456200-114461200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:114456200-114461200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:114456200-114465400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:114456200-114470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:114456200-114470600	Weak transcription	Brain Substantia Nigra	brain

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