Variant report

Variant	rs13337437
Chromosome Location	chr16:70276059-70276060
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1979594	1.00[EUR][1000 genomes]
rs60828997	1.00[EUR][1000 genomes]
rs7193598	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7200034	1.00[EUR][1000 genomes]
rs7200891	1.00[EUR][1000 genomes]
rs8047189	0.87[AMR][1000 genomes]
rs891138	1.00[EUR][1000 genomes]
rs9922969	0.87[AMR][1000 genomes]
rs9924352	1.00[EUR][1000 genomes]
rs9927480	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9931779	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940592	0.87[AMR][1000 genomes]
rs9940654	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv2762188	chr16:69976033-70281778	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1802826	chr16:69988100-70287669	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv820087	chr16:70047361-70280926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv1820100	chr16:70048808-70311044	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	esv1800243	chr16:70132531-70282845	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	esv1802130	chr16:70135585-70283536	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv869607	chr16:70135644-70280883	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv870425	chr16:70135644-70280883	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
14	esv1801017	chr16:70141558-70303736	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	esv20058	chr16:70145134-70285081	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats 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
16	nsv1062405	chr16:70151515-70281766	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking 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	51 gene(s)	inside rSNPs	diseases
18	esv1796562	chr16:70206819-70289517	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	esv1825452	chr16:70206819-70289517	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
20	esv1804795	chr16:70206819-70294463	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	esv14657	chr16:70234205-70284981	Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	esv1811334	chr16:70235145-70283736	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	esv1811861	chr16:70236114-70283736	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	esv1832431	chr16:70236677-70283736	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	esv1851535	chr16:70236677-70283736	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	esv1825920	chr16:70236877-70280052	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	esv1814160	chr16:70236877-70282845	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	esv1815004	chr16:70236877-70283536	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
29	esv1829819	chr16:70236877-70283536	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	esv1845377	chr16:70236877-70283536	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
31	esv1851144	chr16:70236877-70283536	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
32	esv1825780	chr16:70241816-70280252	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
33	nsv978165	chr16:70244012-70286115	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
34	esv1842993	chr16:70251428-70283736	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	esv1810179	chr16:70251628-70283536	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
36	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
37	esv1826506	chr16:70253919-70287669	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
38	nsv906868	chr16:70270429-70292810	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70232400-70284800	Weak transcription	Spleen	Spleen
2	chr16:70233200-70283400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:70233200-70283600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:70235600-70284200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:70237200-70284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:70238600-70284800	Weak transcription	Esophagus	oesophagus
7	chr16:70238800-70283400	Weak transcription	NHEK	skin
8	chr16:70238800-70283600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:70239600-70283400	Weak transcription	Brain Angular Gyrus	brain
10	chr16:70241000-70283600	Weak transcription	Brain Germinal Matrix	brain
11	chr16:70242200-70283400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:70242600-70282600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:70242600-70283000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr16:70242800-70283400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:70243200-70283400	Weak transcription	NH-A	brain
16	chr16:70245000-70283400	Weak transcription	Brain Anterior Caudate	brain
17	chr16:70245600-70283000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr16:70245600-70283000	Weak transcription	Small Intestine	intestine
19	chr16:70245800-70283400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr16:70246400-70283400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:70246400-70283400	Weak transcription	Colon Smooth Muscle	Colon
22	chr16:70247800-70283000	Weak transcription	Fetal Intestine Large	intestine
23	chr16:70247800-70283000	Weak transcription	Fetal Muscle Leg	muscle
24	chr16:70247800-70283200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:70248000-70283200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr16:70248000-70283400	Weak transcription	HMEC	breast
27	chr16:70249000-70284800	Weak transcription	Brain Hippocampus Middle	brain
28	chr16:70249600-70284200	Weak transcription	Brain Substantia Nigra	brain
29	chr16:70250800-70283200	Weak transcription	K562	blood
30	chr16:70250800-70283600	Weak transcription	Right Ventricle	heart
31	chr16:70251000-70284200	Weak transcription	Placenta	Placenta
32	chr16:70252600-70279600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr16:70252600-70284000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr16:70252600-70284200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr16:70253400-70283400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr16:70254000-70281600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr16:70254000-70283200	Weak transcription	Primary T cells from cord blood	blood
38	chr16:70254600-70284200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr16:70257400-70283600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:70258800-70283000	Weak transcription	GM12878-XiMat	blood
41	chr16:70259200-70284200	Weak transcription	Gastric	stomach
42	chr16:70259400-70284600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:70259600-70284200	Weak transcription	Pancreas	Pancrea
44	chr16:70260800-70284200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr16:70261400-70282800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr16:70261400-70283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:70261400-70283400	Weak transcription	Left Ventricle	heart
48	chr16:70261800-70283400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:70261800-70283400	Weak transcription	Fetal Brain Female	brain
50	chr16:70261800-70283400	Weak transcription	Rectal Mucosa Donor 31	rectum

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