Variant report

Variant	rs12598081
Chromosome Location	chr16:12502535-12502536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11075067	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075069	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11861465	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11865405	0.82[EUR][1000 genomes]
rs12596307	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12597864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12598586	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12599956	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12600177	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1558819	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57142587	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57640286	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57913527	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57977596	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58143428	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58266676	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58384989	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58449530	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59179276	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59777126	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59818227	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60317138	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61321067	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62028366	0.96[ASN][1000 genomes]
rs62028371	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62028392	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62028393	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62028396	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62028397	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62028400	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7198230	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7203445	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8049296	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs874567	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1736	chr16:12477807-12522707	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1046002	chr16:12482003-12510643	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
2	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:12487400-12506400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr16:12496000-12503400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:12496600-12502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:12497800-12505000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:12497800-12519600	Weak transcription	Brain Anterior Caudate	brain
8	chr16:12497800-12539800	Weak transcription	Left Ventricle	heart
9	chr16:12498000-12506800	Weak transcription	HSMMtube	muscle
10	chr16:12498000-12510800	Weak transcription	Spleen	Spleen
11	chr16:12498000-12511600	Weak transcription	Fetal Muscle Leg	muscle
12	chr16:12498000-12515400	Weak transcription	Pancreas	Pancrea
13	chr16:12498000-12518600	Weak transcription	Fetal Intestine Small	intestine
14	chr16:12498000-12541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr16:12498200-12504200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr16:12498200-12504200	Weak transcription	Thymus	Thymus
17	chr16:12498200-12505400	Weak transcription	Gastric	stomach
18	chr16:12498200-12506000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr16:12498200-12510600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:12498200-12513200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr16:12498200-12517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:12498400-12505400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:12498400-12506000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:12498400-12513800	Weak transcription	Aorta	Aorta
25	chr16:12498400-12514200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:12498400-12514800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:12498400-12516200	Weak transcription	Fetal Stomach	stomach
28	chr16:12498400-12518800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr16:12498400-12523200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr16:12498400-12523600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:12498400-12523800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
33	chr16:12498600-12507400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:12498800-12516600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:12498800-12523800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr16:12499200-12511800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr16:12499200-12518200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr16:12499400-12504200	Weak transcription	Fetal Thymus	thymus
39	chr16:12499400-12505400	Weak transcription	Adipose Nuclei	Adipose
40	chr16:12499400-12505800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr16:12499400-12512800	Weak transcription	Brain Substantia Nigra	brain
42	chr16:12499400-12517200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr16:12499400-12527000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:12499600-12512800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:12500800-12503200	Enhancers	Placenta	Placenta
46	chr16:12501000-12510400	Weak transcription	Lung	lung
47	chr16:12501400-12507200	Weak transcription	GM12878-XiMat	blood
48	chr16:12501600-12504800	Weak transcription	Primary B cells from cord blood	blood
49	chr16:12501600-12504800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:12501600-12505800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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