Variant report

Variant	rs13337120
Chromosome Location	chr16:47532494-47532495
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47530496..47533304-chr16:47537314..47539416,3	K562	blood:
2	chr16:47530496..47533304-chr16:47537314..47539255,2	K562	blood:

Variant related genes	Relation type
ENSG00000222268	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332637	0.86[AFR][1000 genomes]
rs13332639	0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336222	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940720	0.89[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47496200-47538400	Weak transcription	NH-A	brain
2	chr16:47502400-47533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:47521000-47536400	Weak transcription	HSMMtube	muscle
4	chr16:47524600-47545800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:47525200-47533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:47525400-47532600	Weak transcription	Fetal Heart	heart
7	chr16:47525800-47536800	Weak transcription	A549	lung
8	chr16:47525800-47538600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:47525800-47563000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr16:47526200-47537800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:47526400-47538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:47526600-47533400	Weak transcription	Fetal Brain Male	brain
13	chr16:47526600-47537800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:47526800-47533200	Weak transcription	Fetal Thymus	thymus
15	chr16:47526800-47538200	Weak transcription	Stomach Mucosa	stomach
16	chr16:47527000-47532600	Weak transcription	Brain Germinal Matrix	brain
17	chr16:47527000-47533200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:47527000-47533600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:47527000-47533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:47527000-47537800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:47527000-47538200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:47527000-47538600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr16:47527000-47538600	Weak transcription	Psoas Muscle	Psoas
24	chr16:47527200-47532600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:47527200-47532600	Weak transcription	Fetal Brain Female	brain
26	chr16:47527200-47532800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr16:47527200-47533000	Weak transcription	Colonic Mucosa	Colon
28	chr16:47527200-47533200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr16:47527200-47533200	Weak transcription	Brain Anterior Caudate	brain
30	chr16:47527200-47533600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:47527200-47533600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr16:47527200-47533600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:47527200-47533600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr16:47527200-47533600	Weak transcription	Brain Substantia Nigra	brain
35	chr16:47527200-47533600	Weak transcription	Pancreas	Pancrea
36	chr16:47527200-47533600	Weak transcription	Spleen	Spleen
37	chr16:47527200-47536800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr16:47527200-47538600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr16:47527200-47538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:47527200-47538600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:47527200-47541400	Weak transcription	Right Atrium	heart
42	chr16:47527400-47533800	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:47527600-47532800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr16:47527600-47533600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr16:47527600-47533600	Weak transcription	Brain Angular Gyrus	brain
46	chr16:47527600-47537000	Weak transcription	Osteobl	bone
47	chr16:47527600-47538000	Weak transcription	NHLF	lung
48	chr16:47527600-47538600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr16:47528000-47532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:47528200-47533200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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