Variant report

Variant	rs9854846
Chromosome Location	chr3:120181419-120181420
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	chr3:120176725..120179691-chr3:120180147..120181932,2	K562	blood:
2	chr3:120181379..120183324-chr3:120187203..120188859,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1520877	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1520879	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1520880	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55850616	1.00[EUR][1000 genomes]
rs55893937	1.00[EUR][1000 genomes]
rs57460775	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72958801	1.00[EUR][1000 genomes]
rs7637904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7649619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9289145	0.83[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9843734	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9849292	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9868131	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120170400-120190800	Weak transcription	Aorta	Aorta
2	chr3:120178200-120181600	Enhancers	Right Atrium	heart
3	chr3:120179200-120181800	Enhancers	NHDF-Ad	bronchial
4	chr3:120179800-120182000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:120180000-120182000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:120180000-120182000	Enhancers	Fetal Heart	heart
7	chr3:120180000-120188000	Weak transcription	HSMMtube	muscle
8	chr3:120180200-120188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:120180400-120181600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:120180400-120181600	Enhancers	Left Ventricle	heart
11	chr3:120180400-120181800	Enhancers	Right Ventricle	heart
12	chr3:120180600-120181600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr3:120180600-120181600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:120180600-120181600	Enhancers	Spleen	Spleen
15	chr3:120180600-120181800	Enhancers	HUVEC	blood vessel
16	chr3:120180600-120182000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:120180600-120187400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:120180800-120181800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:120180800-120182000	Enhancers	Osteobl	bone
20	chr3:120181000-120181600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:120181000-120181800	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:120181000-120181800	Enhancers	Ovary	ovary
23	chr3:120181200-120182000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:120181200-120188600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:120181400-120181600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:120181400-120182800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:120181400-120186600	Weak transcription	Placenta	Placenta
28	chr3:120181400-120187200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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