Variant report

Variant	rs8054041
Chromosome Location	chr16:47547230-47547231
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	chr16:47541164..47545156-chr16:47546024..47549793,5	K562	blood:
2	chr16:47542191..47545156-chr16:47546024..47549181,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16945398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945483	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945540	1.00[AMR][1000 genomes]
rs16953990	1.00[AMR][1000 genomes]
rs16954079	1.00[AMR][1000 genomes]
rs16955741	1.00[AMR][1000 genomes]
rs4324153	1.00[AMR][1000 genomes]
rs7200023	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205849	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8044898	0.97[AFR][1000 genomes]
rs8049167	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs8058408	1.00[AMR][1000 genomes]
rs8061091	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063586	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
6	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
10	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
13	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv1059367	chr16:47524706-47586335	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv2761905	chr16:47524718-47586347	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47525800-47563000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:47535200-47548400	Weak transcription	Fetal Heart	heart
3	chr16:47537200-47557200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:47538200-47568800	Weak transcription	Brain Angular Gyrus	brain
5	chr16:47538400-47557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr16:47539000-47554400	Weak transcription	Fetal Brain Male	brain
7	chr16:47539000-47560200	Weak transcription	HMEC	breast
8	chr16:47539200-47557200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:47539200-47563800	Weak transcription	Hela-S3	cervix
10	chr16:47539200-47569600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:47539200-47580400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:47539400-47547400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:47539400-47548000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:47539400-47548200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:47539400-47548200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:47539400-47548200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:47539400-47548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:47539400-47548400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:47539400-47548600	Weak transcription	NH-A	brain
20	chr16:47539400-47549400	Strong transcription	Primary B cells from cord blood	blood
21	chr16:47539400-47550200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr16:47539400-47557000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr16:47539400-47557000	Weak transcription	Stomach Mucosa	stomach
24	chr16:47539400-47557200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr16:47539400-47557200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr16:47539400-47557400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:47539400-47566400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:47539400-47599000	Weak transcription	NHEK	skin
29	chr16:47539800-47566600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:47540000-47548200	Weak transcription	Fetal Intestine Small	intestine
31	chr16:47543000-47552600	Strong transcription	Dnd41	blood
32	chr16:47543000-47553600	Strong transcription	Adipose Nuclei	Adipose
33	chr16:47543200-47547800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr16:47543200-47550600	Strong transcription	K562	blood
35	chr16:47543200-47554200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr16:47543200-47554600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:47543200-47556800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:47543400-47553600	Strong transcription	Liver	Liver
39	chr16:47543400-47554400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr16:47543400-47555200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr16:47543600-47548600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr16:47543600-47548800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr16:47543600-47550600	Strong transcription	Brain Anterior Caudate	brain
44	chr16:47543600-47550600	Strong transcription	HepG2	liver
45	chr16:47543600-47553200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr16:47543600-47553600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:47543800-47547600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr16:47543800-47548600	Strong transcription	Primary T cells from cord blood	blood
49	chr16:47543800-47548800	Strong transcription	Fetal Intestine Large	intestine
50	chr16:47543800-47549000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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