Variant report

Variant	rs74008988
Chromosome Location	chr16:12454502-12454503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12453383..12455322-chr16:12457065..12459582,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12103021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331380	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332083	0.86[EUR][1000 genomes]
rs13332306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16959350	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28368750	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28405384	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28462125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472378	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28496413	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28605678	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55916220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56666563	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56836971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011047	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58031076	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58393449	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60011426	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60663572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61159108	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73508005	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74008989	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74009002	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746311	0.86[EUR][1000 genomes]
rs746312	0.86[EUR][1000 genomes]
rs9922894	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9926796	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932158	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9933058	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
2	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:12410200-12464800	Weak transcription	Gastric	stomach
4	chr16:12428400-12461200	Weak transcription	Thymus	Thymus
5	chr16:12434600-12460200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:12435800-12454800	Weak transcription	Pancreas	Pancrea
7	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:12436200-12456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:12437400-12456600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:12437600-12456200	Weak transcription	Right Atrium	heart
11	chr16:12438800-12456400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr16:12443200-12456600	Weak transcription	Spleen	Spleen
13	chr16:12443200-12456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:12443200-12456800	Weak transcription	Psoas Muscle	Psoas
15	chr16:12443200-12456800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:12443200-12457000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr16:12443600-12470800	Weak transcription	HepG2	liver
18	chr16:12444000-12454800	Strong transcription	Primary T cells from cord blood	blood
19	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr16:12447600-12456200	Weak transcription	Left Ventricle	heart
21	chr16:12447600-12456400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr16:12447600-12456400	Weak transcription	Ovary	ovary
23	chr16:12447600-12470000	Weak transcription	Esophagus	oesophagus
24	chr16:12448400-12456600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:12448600-12460400	Weak transcription	Fetal Stomach	stomach
26	chr16:12448600-12471200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:12448800-12456600	Weak transcription	HSMMtube	muscle
28	chr16:12449000-12456600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:12449000-12457400	Weak transcription	Colon Smooth Muscle	Colon
30	chr16:12449400-12456600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:12449600-12456000	Weak transcription	Fetal Heart	heart
32	chr16:12449800-12463000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr16:12450000-12454800	Weak transcription	Fetal Intestine Small	intestine
34	chr16:12450800-12470000	Weak transcription	Fetal Thymus	thymus
35	chr16:12451000-12456000	Weak transcription	Brain Anterior Caudate	brain
36	chr16:12451000-12456200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr16:12452000-12455800	Weak transcription	Brain Substantia Nigra	brain
38	chr16:12452400-12456400	Weak transcription	NHDF-Ad	bronchial
39	chr16:12452600-12456000	Weak transcription	Brain Hippocampus Middle	brain
40	chr16:12452800-12464200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr16:12453000-12461000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:12453000-12470600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr16:12453200-12456400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:12453200-12479000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr16:12453400-12454600	ZNF genes & repeats	GM12878-XiMat	blood
46	chr16:12453400-12454800	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr16:12453400-12456600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:12453400-12467400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr16:12453400-12469400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr16:12454000-12454600	ZNF genes & repeats	Adipose Nuclei	Adipose

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