Variant report

Variant	rs8063594
Chromosome Location	chr16:48345191-48345192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17750580	0.88[YRI][hapmap]
rs57154096	1.00[AMR][1000 genomes]
rs57330554	1.00[AMR][1000 genomes]
rs59748923	0.93[AFR][1000 genomes]
rs59953548	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61258375	0.85[AFR][1000 genomes];1.00[AMR][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	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	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48325000-48350800	Weak transcription	NHLF	lung
2	chr16:48330200-48347800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:48330400-48354600	Weak transcription	Stomach Mucosa	stomach
4	chr16:48333600-48345600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:48334600-48350800	Weak transcription	NH-A	brain
6	chr16:48334800-48361400	Strong transcription	Liver	Liver
7	chr16:48338000-48351000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:48338400-48350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:48338600-48352600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:48338600-48352600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:48338600-48381200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:48339000-48345600	Weak transcription	Aorta	Aorta
13	chr16:48339000-48347200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:48339200-48345600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:48339400-48346600	Weak transcription	Gastric	stomach
16	chr16:48339400-48368000	Weak transcription	Colonic Mucosa	Colon
17	chr16:48340200-48346400	Weak transcription	NHEK	skin
18	chr16:48340400-48345200	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr16:48341200-48347400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr16:48341200-48347600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:48341400-48350600	Weak transcription	Osteobl	bone
22	chr16:48341600-48346800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:48341600-48346800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr16:48341600-48347000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:48341600-48347000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr16:48341600-48348000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:48341800-48345200	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr16:48341800-48346600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
29	chr16:48341800-48347000	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr16:48341800-48347400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
31	chr16:48341800-48347600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr16:48341800-48347600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr16:48341800-48347600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:48341800-48347600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:48341800-48347600	ZNF genes & repeats	GM12878-XiMat	blood
36	chr16:48341800-48347800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr16:48341800-48347800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:48341800-48348000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr16:48342000-48345800	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr16:48342000-48346200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr16:48342000-48346200	Weak transcription	Pancreas	Pancrea
42	chr16:48342000-48346800	ZNF genes & repeats	Fetal Intestine Large	intestine
43	chr16:48342200-48346600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr16:48342200-48368000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr16:48342600-48345600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:48342800-48346200	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr16:48343000-48347000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr16:48343200-48345200	Strong transcription	HSMM	muscle
49	chr16:48343200-48345800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
50	chr16:48343200-48345800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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