Variant report

Variant	rs13068983
Chromosome Location	chr3:119933062-119933063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11929146	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35577170	0.85[ASN][1000 genomes]
rs4676675	0.82[EUR][1000 genomes]
rs4676833	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778180	0.92[ASN][1000 genomes]
rs7632933	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9816153	0.89[YRI][hapmap]
rs9821746	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9878591	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119931200-119934400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:119932400-119934000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:119932400-119934200	Enhancers	Ovary	ovary
4	chr3:119932800-119933200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:119932800-119933200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:119932800-119933400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:119932800-119933600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:119932800-119933600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:119932800-119933600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:119932800-119933600	Enhancers	NHDF-Ad	bronchial
11	chr3:119932800-119933600	Enhancers	NHEK	skin
12	chr3:119932800-119933800	Enhancers	Adipose Nuclei	Adipose
13	chr3:119932800-119934000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:119932800-119934000	Enhancers	Hela-S3	cervix
15	chr3:119932800-119934000	Enhancers	HSMMtube	muscle
16	chr3:119932800-119934200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:119932800-119934200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr3:119932800-119934400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:119932800-119934400	Enhancers	HSMM	muscle
20	chr3:119932800-119934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:119933000-119933400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:119933000-119933400	Enhancers	HMEC	breast
23	chr3:119933000-119933600	Enhancers	Brain Germinal Matrix	brain
24	chr3:119933000-119933800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:119933000-119933800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:119933000-119933800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:119933000-119933800	Enhancers	Fetal Stomach	stomach
28	chr3:119933000-119934200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:119933000-119934800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:119933000-119934800	Enhancers	Fetal Muscle Leg	muscle
31	chr3:119933000-119934800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:119933000-119943200	Weak transcription	Psoas Muscle	Psoas

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