Variant report

Variant	rs8048686
Chromosome Location	chr16:58708198-58708199
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	chr16:58662484..58664905-chr16:58706926..58708525,2	K562	blood:
2	chr16:58707416..58709628-chr16:58713431..58716357,2	K562	blood:

Variant related genes	Relation type
ENSG00000125107	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13329892	1.00[EUR][1000 genomes]
rs13334745	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334922	1.00[EUR][1000 genomes]
rs13335464	1.00[EUR][1000 genomes]
rs13335851	1.00[EUR][1000 genomes]
rs13335953	1.00[EUR][1000 genomes]
rs13337650	1.00[EUR][1000 genomes]
rs13339352	1.00[EUR][1000 genomes]
rs28394663	1.00[EUR][1000 genomes]
rs28468502	1.00[EUR][1000 genomes]
rs28472773	1.00[EUR][1000 genomes]
rs28530777	1.00[EUR][1000 genomes]
rs28533067	1.00[EUR][1000 genomes]
rs28613241	1.00[EUR][1000 genomes]
rs28644182	1.00[EUR][1000 genomes]
rs28744389	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34698978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57335704	1.00[EUR][1000 genomes]
rs7186446	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193580	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73550817	1.00[EUR][1000 genomes]
rs73550821	1.00[EUR][1000 genomes]
rs73558468	1.00[EUR][1000 genomes]
rs9746055	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9923409	1.00[EUR][1000 genomes]
rs9924494	1.00[EUR][1000 genomes]
rs9926053	1.00[EUR][1000 genomes]
rs9930277	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938192	1.00[EUR][1000 genomes]
rs9938386	1.00[EUR][1000 genomes]
rs9939324	1.00[EUR][1000 genomes]
rs9941013	1.00[EUR][1000 genomes]
rs9941175	1.00[EUR][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	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv528513	chr16:58672763-58717874	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58664800-58717200	Weak transcription	Right Atrium	heart
2	chr16:58695000-58711000	Weak transcription	NHEK	skin
3	chr16:58695200-58711000	Weak transcription	NHDF-Ad	bronchial
4	chr16:58695200-58714200	Weak transcription	NH-A	brain
5	chr16:58695200-58717400	Weak transcription	Fetal Kidney	kidney
6	chr16:58695600-58717400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:58697600-58709200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:58697800-58717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:58698400-58711000	Weak transcription	Fetal Thymus	thymus
10	chr16:58698400-58713600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:58698600-58713200	Weak transcription	Hela-S3	cervix
12	chr16:58699000-58711000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:58699000-58717400	Weak transcription	Primary B cells from cord blood	blood
14	chr16:58699400-58710000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:58699400-58711400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:58699400-58711400	Weak transcription	A549	lung
17	chr16:58699400-58717200	Weak transcription	Fetal Heart	heart
18	chr16:58699400-58717400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr16:58699600-58711000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr16:58699600-58712400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr16:58699600-58716000	Strong transcription	Fetal Intestine Small	intestine
22	chr16:58699600-58717800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr16:58699800-58715000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:58700200-58709800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:58700400-58716400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:58700800-58717200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr16:58701200-58708800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:58701200-58717800	Weak transcription	Fetal Lung	lung
29	chr16:58701400-58708600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:58701400-58709200	Weak transcription	Pancreas	Pancrea
31	chr16:58701400-58709400	Weak transcription	Aorta	Aorta
32	chr16:58701400-58717000	Weak transcription	HUVEC	blood vessel
33	chr16:58701400-58717400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr16:58701600-58709400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:58701600-58709600	Weak transcription	Psoas Muscle	Psoas
36	chr16:58701600-58709800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr16:58701600-58709800	Weak transcription	HepG2	liver
38	chr16:58701600-58717200	Weak transcription	HMEC	breast
39	chr16:58701600-58717400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr16:58701800-58708200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:58701800-58709800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:58701800-58711000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr16:58701800-58711000	Weak transcription	Colonic Mucosa	Colon
44	chr16:58701800-58711400	Weak transcription	Colon Smooth Muscle	Colon
45	chr16:58701800-58711600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr16:58701800-58717200	Weak transcription	K562	blood
47	chr16:58702000-58709200	Weak transcription	Thymus	Thymus
48	chr16:58703000-58715400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:58703200-58715600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:58703200-58717400	Weak transcription	Small Intestine	intestine

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