Variant report

Variant	rs9869580
Chromosome Location	chr3:110246951-110246952
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:110245688..110247478-chr3:110251852..110254191,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12330129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12330130	0.92[AFR][1000 genomes]
rs12330749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12330801	0.92[AFR][1000 genomes]
rs12695213	0.92[AFR][1000 genomes]
rs13315083	0.92[AFR][1000 genomes]
rs13324518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13324533	0.92[AFR][1000 genomes]
rs28629258	0.87[AFR][1000 genomes]
rs28836839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9809437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9836341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9846312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9855229	0.91[AFR][1000 genomes]
rs9867283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9878382	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999414	chr3:110103126-110340180	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv829670	chr3:110134650-110308256	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv520365	chr3:110155172-110441165	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1001144	chr3:110158316-110431113	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv536687	chr3:110158316-110431113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1001810	chr3:110158316-110522247	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1010230	chr3:110204439-110588814	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv536688	chr3:110204439-110588814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv829672	chr3:110206693-110361632	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1011034	chr3:110209344-110559021	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv536689	chr3:110209344-110559021	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr3:110244800-110248200	Enhancers	HUVEC	blood vessel
2	chr3:110245200-110247000	Enhancers	Hela-S3	cervix
3	chr3:110245200-110247000	Enhancers	HMEC	breast
4	chr3:110245200-110247200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:110245200-110247200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:110245200-110247800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:110245200-110248000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:110245400-110247000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:110245400-110247000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:110245400-110247000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:110245400-110247200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:110245400-110247600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:110245400-110247600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:110245400-110247800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:110245400-110248200	Enhancers	Osteobl	bone
16	chr3:110245600-110247800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:110245800-110248200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr3:110246000-110247400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:110246200-110247000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:110246200-110247200	Enhancers	NH-A	brain
21	chr3:110246200-110247400	Enhancers	Fetal Intestine Large	intestine
22	chr3:110246400-110247000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr3:110246400-110248000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr3:110246400-110248200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:110246600-110247000	Enhancers	HSMM	muscle
26	chr3:110246600-110247000	Flanking Active TSS	NHLF	lung
27	chr3:110246600-110247200	Enhancers	NHEK	skin
28	chr3:110246600-110247600	Enhancers	NHDF-Ad	bronchial
29	chr3:110246600-110248000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:110246800-110247000	Flanking Active TSS	K562	blood
31	chr3:110246800-110248200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:110246800-110248400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:110246800-110251000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:110246800-110251800	Weak transcription	Fetal Intestine Small	intestine

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