Variant report

Variant	rs10873698
Chromosome Location	chr1:85756250-85756251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85719208..85720970-chr1:85755325..85757545,2	K562	blood:
2	chr1:85740925..85743894-chr1:85754039..85756993,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142867	Chromatin interaction
ENSG00000223653	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10782547	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11161589	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11161590	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2030075	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10873698	BCL10	cis	multi-tissue	Pritchard

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
3	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:85750000-85761400	Weak transcription	Lung	lung
5	chr1:85750000-85762800	Weak transcription	Pancreas	Pancrea
6	chr1:85750400-85762800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:85750800-85763800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:85752200-85762800	Weak transcription	Aorta	Aorta
9	chr1:85752400-85760600	Weak transcription	Fetal Stomach	stomach
10	chr1:85753600-85758400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:85753600-85758600	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:85754000-85756600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:85754200-85758400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:85754400-85757600	Enhancers	NHDF-Ad	bronchial
15	chr1:85754400-85757800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:85755000-85756400	Enhancers	Hela-S3	cervix
17	chr1:85755000-85757400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:85755000-85757600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:85755000-85757600	Enhancers	Osteobl	bone
20	chr1:85755000-85757800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:85755000-85757800	Enhancers	NH-A	brain
22	chr1:85755000-85758400	Enhancers	NHLF	lung
23	chr1:85755200-85756400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:85755200-85756600	Enhancers	HSMMtube	muscle
25	chr1:85755200-85756800	Enhancers	Fetal Heart	heart
26	chr1:85755200-85757000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:85755200-85757800	Enhancers	HSMM	muscle
28	chr1:85755400-85756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:85755400-85757800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:85755600-85756400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:85755800-85756400	Enhancers	Stomach Mucosa	stomach
32	chr1:85755800-85758400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:85755800-85763200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:85756000-85756400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:85756000-85756400	Weak transcription	Esophagus	oesophagus
36	chr1:85756000-85758600	Enhancers	HMEC	breast
37	chr1:85756000-85759800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:85756000-85762800	Enhancers	NHEK	skin
39	chr1:85756200-85756400	Flanking Active TSS	GM12878-XiMat	blood
40	chr1:85756200-85759800	Weak transcription	HUVEC	blood vessel

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