Variant report

Variant	rs13336222
Chromosome Location	chr16:47549536-47549537
allele	C/T
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	chr16:47548754..47550733-chr16:47554531..47556036,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11859041	1.00[AMR][1000 genomes]
rs11859248	1.00[AMR][1000 genomes]
rs11859745	1.00[AMR][1000 genomes]
rs11859829	1.00[AMR][1000 genomes]
rs11859924	1.00[AMR][1000 genomes]
rs11860204	1.00[AMR][1000 genomes]
rs11860314	1.00[AMR][1000 genomes]
rs11860698	1.00[AMR][1000 genomes]
rs11863564	1.00[AMR][1000 genomes]
rs11863702	1.00[AMR][1000 genomes]
rs11863785	1.00[AMR][1000 genomes]
rs11864218	1.00[AMR][1000 genomes]
rs11864400	1.00[AMR][1000 genomes]
rs11864575	1.00[AMR][1000 genomes]
rs11865249	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs11865330	1.00[AMR][1000 genomes]
rs11866253	1.00[AMR][1000 genomes]
rs11866307	1.00[AMR][1000 genomes]
rs12103147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332639	0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337120	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28512495	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28654807	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28772732	1.00[AMR][1000 genomes]
rs28797865	1.00[AMR][1000 genomes]
rs35691326	1.00[AMR][1000 genomes]
rs9930900	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940720	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];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	chr16:47537200-47557200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:47538200-47568800	Weak transcription	Brain Angular Gyrus	brain
4	chr16:47538400-47557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:47539000-47554400	Weak transcription	Fetal Brain Male	brain
6	chr16:47539000-47560200	Weak transcription	HMEC	breast
7	chr16:47539200-47557200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr16:47539200-47563800	Weak transcription	Hela-S3	cervix
9	chr16:47539200-47569600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:47539200-47580400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:47539400-47550200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr16:47539400-47557000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr16:47539400-47557000	Weak transcription	Stomach Mucosa	stomach
14	chr16:47539400-47557200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:47539400-47557200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:47539400-47557400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:47539400-47566400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:47539400-47599000	Weak transcription	NHEK	skin
19	chr16:47539800-47566600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:47543000-47552600	Strong transcription	Dnd41	blood
21	chr16:47543000-47553600	Strong transcription	Adipose Nuclei	Adipose
22	chr16:47543200-47550600	Strong transcription	K562	blood
23	chr16:47543200-47554200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:47543200-47554600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:47543200-47556800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:47543400-47553600	Strong transcription	Liver	Liver
27	chr16:47543400-47554400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr16:47543400-47555200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr16:47543600-47550600	Strong transcription	Brain Anterior Caudate	brain
30	chr16:47543600-47550600	Strong transcription	HepG2	liver
31	chr16:47543600-47553200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:47543600-47553600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:47543800-47551400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr16:47543800-47552600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr16:47543800-47553800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr16:47544000-47553400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr16:47544400-47549800	Weak transcription	Colonic Mucosa	Colon
38	chr16:47545200-47549600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:47545200-47551400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:47545200-47554600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:47545400-47550800	Strong transcription	Placenta	Placenta
42	chr16:47545400-47551000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:47545400-47551200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr16:47545400-47551200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr16:47545400-47551600	Strong transcription	Fetal Muscle Leg	muscle
46	chr16:47545400-47552000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:47545400-47552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:47545600-47550800	Strong transcription	Left Ventricle	heart
49	chr16:47545600-47553200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:47545600-47554600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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