Variant report

Variant	rs1816888
Chromosome Location	chr10:49725304-49725305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49683409..49685423-chr10:49724678..49727528,2	K562	blood:
2	chr10:49723375..49726156-chr10:49734098..49735696,2	K562	blood:
3	chr10:49713648..49715470-chr10:49724741..49727947,3	K562	blood:
4	chr10:49719894..49722832-chr10:49724239..49726454,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10857587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857588	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101354	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101357	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11596336	0.90[ASN][1000 genomes]
rs12777174	0.90[ASN][1000 genomes]
rs12777190	0.90[ASN][1000 genomes]
rs12779617	0.88[ASN][1000 genomes]
rs1900022	0.90[ASN][1000 genomes]
rs34279198	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34552122	0.90[ASN][1000 genomes]
rs34774310	0.90[ASN][1000 genomes]
rs3910907	0.90[ASN][1000 genomes]
rs7910353	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7911247	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915127	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7915233	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49714000-49727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:49715800-49727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:49717400-49726200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:49719400-49725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:49720800-49726600	Weak transcription	Osteobl	bone
7	chr10:49721400-49732000	Weak transcription	HMEC	breast
8	chr10:49721600-49725600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:49723800-49726600	Weak transcription	NHDF-Ad	bronchial
10	chr10:49723800-49727200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:49723800-49729600	Weak transcription	HSMM	muscle
12	chr10:49724000-49725600	Weak transcription	NHLF	lung
13	chr10:49724000-49726200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:49724000-49726200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:49724000-49726200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr10:49724000-49726200	Weak transcription	Right Atrium	heart
17	chr10:49724000-49726400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:49724000-49731000	Weak transcription	HUVEC	blood vessel
19	chr10:49724200-49726800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr10:49724800-49725800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr10:49724800-49728000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:49725000-49725800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:49725000-49727200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr10:49725000-49730000	Enhancers	Primary hematopoietic stem cells	blood

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