Variant report

Variant	rs16859996
Chromosome Location	chr3:112468047-112468048
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12633641	0.91[AFR][1000 genomes]
rs12636634	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1488590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860025	0.91[AFR][1000 genomes]
rs16860034	0.91[AFR][1000 genomes]
rs2895405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682421	0.92[ASN][1000 genomes]
rs4682422	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682425	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv2596946	chr3:112466909-112468471	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112459000-112470600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:112464200-112469200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:112464400-112469200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:112464400-112470800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:112465000-112469200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:112465000-112469400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:112465400-112468200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr3:112465800-112470800	Weak transcription	NHDF-Ad	bronchial
9	chr3:112466000-112469200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:112466200-112470400	Weak transcription	NH-A	brain
11	chr3:112466200-112470400	Weak transcription	Osteobl	bone
12	chr3:112467000-112468600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:112467000-112470800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:112467200-112469400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:112467600-112468200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:112467800-112468200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr3:112467800-112468200	Enhancers	HMEC	breast
18	chr3:112467800-112468600	Enhancers	Stomach Mucosa	stomach
19	chr3:112468000-112468200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:112468000-112468200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr3:112468000-112468400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:112468000-112468600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:112468000-112468600	Enhancers	Placenta	Placenta
24	chr3:112468000-112470600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:112468000-112472000	Enhancers	A549	lung
26	chr3:112468000-112478200	Weak transcription	K562	blood
27	chr3:112468000-112488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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