Variant report

Variant	rs8063703
Chromosome Location	chr16:48478896-48478897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:48476815..48479207-chr16:48481453..48484323,3	K562	blood:
2	chr16:48478297..48479194-chr17:26988911..26989673,2	Hela-S3	cervix:
3	chr16:48478868..48479549-chr21:44816264..44817248,2	Hela-S3	cervix:
4	chr16:48477173..48479098-chr16:48481860..48483849,2	K562	blood:

Variant related genes	Relation type
ENSG00000261802	Chromatin interaction
ENSG00000196470	Chromatin interaction
ENSG00000109111	Chromatin interaction
ENSG00000132581	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12923008	1.00[ASN][1000 genomes]
rs12923156	1.00[ASN][1000 genomes]
rs12925043	0.93[ASN][1000 genomes]
rs13337718	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16946181	0.92[CHD][hapmap];0.95[GIH][hapmap];0.93[ASN][1000 genomes]
rs36028169	0.93[ASN][1000 genomes]
rs66497668	0.93[ASN][1000 genomes]
rs7199557	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8047729	0.92[CHD][hapmap];0.95[GIH][hapmap];0.93[ASN][1000 genomes]
rs9630637	0.93[ASN][1000 genomes]
rs9630638	0.93[ASN][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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1056931	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv542918	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
9	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	esv1008270	chr16:48474586-48482323	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48466400-48487200	Weak transcription	Right Ventricle	heart
2	chr16:48475800-48480600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr16:48478000-48479400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:48478200-48479000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr16:48478200-48479400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr16:48478200-48479400	Enhancers	HMEC	breast
7	chr16:48478400-48479000	Enhancers	Adipose Nuclei	Adipose
8	chr16:48478400-48479200	Enhancers	Stomach Mucosa	stomach
9	chr16:48478400-48479400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:48478400-48479400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:48478400-48479400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:48478400-48479400	Enhancers	HUVEC	blood vessel
13	chr16:48478400-48479400	Enhancers	NHEK	skin
14	chr16:48478400-48480200	Enhancers	Lung	lung
15	chr16:48478400-48480400	Enhancers	Placenta	Placenta
16	chr16:48478400-48480800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:48478600-48479000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:48478600-48479200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr16:48478600-48479200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:48478600-48479200	Flanking Active TSS	A549	lung
21	chr16:48478600-48479400	Enhancers	Primary B cells from peripheral blood	blood
22	chr16:48478600-48479400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr16:48478600-48479400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:48478600-48479400	Enhancers	Brain Hippocampus Middle	brain
25	chr16:48478600-48479400	Enhancers	Fetal Kidney	kidney
26	chr16:48478600-48479400	Enhancers	Fetal Lung	lung
27	chr16:48478600-48479400	Enhancers	Fetal Muscle Leg	muscle
28	chr16:48478600-48479400	Enhancers	Fetal Stomach	stomach
29	chr16:48478600-48479400	Enhancers	Ovary	ovary
30	chr16:48478600-48479400	Flanking Active TSS	Hela-S3	cervix
31	chr16:48478600-48479400	Enhancers	HSMMtube	muscle
32	chr16:48478600-48479400	Flanking Active TSS	NH-A	brain
33	chr16:48478600-48479600	Enhancers	Fetal Muscle Trunk	muscle
34	chr16:48478800-48479000	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr16:48478800-48479200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:48478800-48479200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:48478800-48479200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr16:48478800-48479200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:48478800-48479200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:48478800-48479200	Enhancers	Aorta	Aorta
41	chr16:48478800-48479200	Active TSS	Brain Anterior Caudate	brain
42	chr16:48478800-48479200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr16:48478800-48479200	Enhancers	Fetal Intestine Small	intestine
44	chr16:48478800-48479200	Enhancers	Small Intestine	intestine
45	chr16:48478800-48479200	Enhancers	Spleen	Spleen
46	chr16:48478800-48479200	Flanking Active TSS	HSMM	muscle
47	chr16:48478800-48479200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr16:48478800-48479200	Flanking Active TSS	NHLF	lung
49	chr16:48478800-48479200	Flanking Active TSS	Osteobl	bone
50	chr16:48478800-48479400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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