Variant report

Variant	rs12600177
Chromosome Location	chr16:12493555-12493556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12493474..12495978-chr16:12497042..12499822,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11075067	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11075069	0.84[EUR][1000 genomes]
rs11861465	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12596307	0.84[EUR][1000 genomes]
rs12597864	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12598081	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12598586	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12599956	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1558819	0.84[EUR][1000 genomes]
rs57142587	0.84[EUR][1000 genomes]
rs57640286	0.84[EUR][1000 genomes]
rs57913527	0.84[EUR][1000 genomes]
rs57977596	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58143428	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58266676	0.84[EUR][1000 genomes]
rs58384989	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58449530	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59179276	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59777126	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59818227	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60317138	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61321067	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62028366	0.86[ASN][1000 genomes]
rs62028371	0.84[EUR][1000 genomes]
rs62028392	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62028393	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62028396	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62028397	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62028400	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7198230	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7203445	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8049296	0.84[EUR][1000 genomes]
rs874567	0.87[AMR][1000 genomes];0.82[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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
3	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
4	chr16:12471200-12494200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr16:12471800-12495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:12473800-12493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
9	chr16:12478600-12497400	Weak transcription	Pancreas	Pancrea
10	chr16:12480200-12493600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:12480800-12497400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr16:12481800-12496800	Weak transcription	Esophagus	oesophagus
13	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:12484600-12497200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr16:12485000-12493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:12485000-12493600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:12485000-12497000	Weak transcription	NHLF	lung
18	chr16:12485000-12497400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:12485000-12501000	Weak transcription	NHEK	skin
20	chr16:12485400-12494400	Strong transcription	Primary B cells from cord blood	blood
21	chr16:12486400-12497400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr16:12486600-12493800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:12487000-12496400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:12487000-12497400	Weak transcription	Brain Anterior Caudate	brain
25	chr16:12487000-12497400	Weak transcription	Thymus	Thymus
26	chr16:12487000-12497800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:12487200-12497400	Weak transcription	Colon Smooth Muscle	Colon
28	chr16:12487400-12497200	Weak transcription	Gastric	stomach
29	chr16:12487400-12497400	Weak transcription	Brain Substantia Nigra	brain
30	chr16:12487400-12506400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr16:12487600-12497400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:12487600-12497400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr16:12487600-12497400	Weak transcription	HSMMtube	muscle
34	chr16:12487800-12497200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr16:12487800-12499600	Weak transcription	Psoas Muscle	Psoas
36	chr16:12488000-12496800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:12488000-12497400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr16:12488200-12499200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr16:12489600-12501000	Weak transcription	NHDF-Ad	bronchial
40	chr16:12489800-12497400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:12490200-12499400	Strong transcription	Primary T cells from cord blood	blood
42	chr16:12490400-12497400	Weak transcription	Liver	Liver
43	chr16:12491600-12494200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:12491800-12494600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr16:12491800-12497400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:12491800-12500400	Weak transcription	Right Atrium	heart
47	chr16:12492200-12494600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr16:12492200-12497800	Weak transcription	Fetal Thymus	thymus
49	chr16:12492400-12494200	Strong transcription	Lung	lung
50	chr16:12492400-12494600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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