Variant report

Variant	rs16945386
Chromosome Location	chr16:47532086-47532087
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: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1011532	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10521162	1.00[ASN][1000 genomes]
rs10521163	1.00[ASN][1000 genomes]
rs11860257	1.00[ASN][1000 genomes]
rs11860828	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11861008	1.00[ASN][1000 genomes]
rs11862096	1.00[ASN][1000 genomes]
rs11862281	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11863178	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1200967	1.00[ASN][1000 genomes]
rs13330510	1.00[ASN][1000 genomes]
rs13330699	1.00[ASN][1000 genomes]
rs13332058	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13332800	1.00[ASN][1000 genomes]
rs13332953	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13333003	1.00[ASN][1000 genomes]
rs13334342	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13336943	1.00[ASN][1000 genomes]
rs13338489	1.00[ASN][1000 genomes]
rs13339406	1.00[ASN][1000 genomes]
rs16942513	1.00[ASN][1000 genomes]
rs16945357	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16945358	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16945372	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16945379	1.00[ASN][1000 genomes]
rs16945382	1.00[ASN][1000 genomes]
rs16945387	1.00[ASN][1000 genomes]
rs16945401	1.00[ASN][1000 genomes]
rs16945408	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16945413	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16945430	1.00[ASN][1000 genomes]
rs16945438	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16945443	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16945460	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16945474	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16945493	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16945509	1.00[ASN][1000 genomes]
rs16945543	1.00[ASN][1000 genomes]
rs16955095	1.00[ASN][1000 genomes]
rs2054000	1.00[ASN][1000 genomes]
rs2062968	1.00[ASN][1000 genomes]
rs2111226	1.00[ASN][1000 genomes]
rs2341961	1.00[ASN][1000 genomes]
rs28482463	1.00[ASN][1000 genomes]
rs28566542	1.00[ASN][1000 genomes]
rs28597108	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2880205	1.00[ASN][1000 genomes]
rs28844885	1.00[ASN][1000 genomes]
rs56268318	1.00[ASN][1000 genomes]
rs56830681	1.00[ASN][1000 genomes]
rs57884999	1.00[ASN][1000 genomes]
rs58190241	1.00[ASN][1000 genomes]
rs58550976	1.00[ASN][1000 genomes]
rs58837077	1.00[ASN][1000 genomes]
rs60200500	1.00[ASN][1000 genomes]
rs61053970	1.00[ASN][1000 genomes]
rs6598598	1.00[ASN][1000 genomes]
rs6598602	1.00[ASN][1000 genomes]
rs7185641	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7185915	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7193794	1.00[ASN][1000 genomes]
rs7194190	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7194249	1.00[ASN][1000 genomes]
rs7195074	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7196244	1.00[ASN][1000 genomes]
rs7197659	1.00[ASN][1000 genomes]
rs7197882	1.00[ASN][1000 genomes]
rs7199392	1.00[ASN][1000 genomes]
rs7199696	1.00[ASN][1000 genomes]
rs7200554	1.00[ASN][1000 genomes]
rs7204944	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73534789	1.00[ASN][1000 genomes]
rs73534794	1.00[ASN][1000 genomes]
rs73536913	1.00[ASN][1000 genomes]
rs73536920	1.00[ASN][1000 genomes]
rs73536936	1.00[ASN][1000 genomes]
rs73536939	1.00[ASN][1000 genomes]
rs73538991	1.00[ASN][1000 genomes]
rs73541010	1.00[ASN][1000 genomes]
rs73547271	1.00[ASN][1000 genomes]
rs73547284	1.00[ASN][1000 genomes]
rs73547290	1.00[ASN][1000 genomes]
rs73547296	1.00[ASN][1000 genomes]
rs73549309	1.00[ASN][1000 genomes]
rs73549315	1.00[ASN][1000 genomes]
rs73549319	1.00[ASN][1000 genomes]
rs73549387	1.00[ASN][1000 genomes]
rs73551204	1.00[ASN][1000 genomes]
rs73551214	1.00[ASN][1000 genomes]
rs73551221	1.00[ASN][1000 genomes]
rs73551224	1.00[ASN][1000 genomes]
rs73551228	1.00[ASN][1000 genomes]
rs73551230	1.00[ASN][1000 genomes]
rs73551233	1.00[ASN][1000 genomes]
rs73551238	1.00[ASN][1000 genomes]
rs7499413	1.00[ASN][1000 genomes]
rs8046175	1.00[ASN][1000 genomes]
rs8047342	1.00[ASN][1000 genomes]
rs8048233	1.00[ASN][1000 genomes]
rs8052294	1.00[ASN][1000 genomes]
rs8054017	1.00[ASN][1000 genomes]
rs8054582	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8062269	1.00[ASN][1000 genomes]
rs876258	1.00[ASN][1000 genomes]
rs9328591	1.00[CHB][hapmap]
rs9328592	1.00[ASN][1000 genomes]
rs9328600	1.00[ASN][1000 genomes]
rs9921542	1.00[ASN][1000 genomes]
rs9922381	1.00[ASN][1000 genomes]
rs9922569	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9926490	1.00[ASN][1000 genomes]
rs9931638	1.00[ASN][1000 genomes]
rs9932230	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9933052	1.00[ASN][1000 genomes]
rs9935427	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9936361	1.00[ASN][1000 genomes]
rs9936434	1.00[CHB][hapmap]

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	chr16:47526600-47532400	Weak transcription	Right Ventricle	heart
13	chr16:47526600-47533400	Weak transcription	Fetal Brain Male	brain
14	chr16:47526600-47537800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:47526800-47533200	Weak transcription	Fetal Thymus	thymus
16	chr16:47526800-47538200	Weak transcription	Stomach Mucosa	stomach
17	chr16:47527000-47532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:47527000-47532400	Weak transcription	Esophagus	oesophagus
19	chr16:47527000-47532600	Weak transcription	Brain Germinal Matrix	brain
20	chr16:47527000-47533200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:47527000-47533600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:47527000-47533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:47527000-47537800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:47527000-47538200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:47527000-47538600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr16:47527000-47538600	Weak transcription	Psoas Muscle	Psoas
27	chr16:47527200-47532200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:47527200-47532200	Weak transcription	Aorta	Aorta
29	chr16:47527200-47532200	Weak transcription	Fetal Stomach	stomach
30	chr16:47527200-47532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:47527200-47532400	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:47527200-47532600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:47527200-47532600	Weak transcription	Fetal Brain Female	brain
34	chr16:47527200-47532800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:47527200-47533000	Weak transcription	Colonic Mucosa	Colon
36	chr16:47527200-47533200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr16:47527200-47533200	Weak transcription	Brain Anterior Caudate	brain
38	chr16:47527200-47533600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:47527200-47533600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr16:47527200-47533600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:47527200-47533600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:47527200-47533600	Weak transcription	Brain Substantia Nigra	brain
43	chr16:47527200-47533600	Weak transcription	Pancreas	Pancrea
44	chr16:47527200-47533600	Weak transcription	Spleen	Spleen
45	chr16:47527200-47536800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr16:47527200-47538600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr16:47527200-47538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr16:47527200-47538600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:47527200-47541400	Weak transcription	Right Atrium	heart
50	chr16:47527400-47532400	Weak transcription	Rectal Mucosa Donor 29	rectum

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