Variant report

Variant	rs67874954
Chromosome Location	chr16:12480096-12480097
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	chr16:12479812..12482629-chr16:12484351..12486474,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1641882	0.82[ASN][1000 genomes]
rs57062904	1.00[ASN][1000 genomes]
rs57472888	0.81[AMR][1000 genomes]
rs6498282	0.98[ASN][1000 genomes]
rs7190594	0.80[ASN][1000 genomes]
rs7196271	0.85[AMR][1000 genomes]
rs7204072	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923095	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr16:12457000-12492400	Weak transcription	Lung	lung
4	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr16:12457600-12491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
7	chr16:12461200-12490200	Weak transcription	GM12878-XiMat	blood
8	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
9	chr16:12471000-12480800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr16:12471000-12486000	Weak transcription	HSMMtube	muscle
11	chr16:12471200-12494200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr16:12471400-12485800	Weak transcription	Colon Smooth Muscle	Colon
13	chr16:12471800-12493400	Weak transcription	Aorta	Aorta
14	chr16:12471800-12495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:12472200-12486000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:12473800-12484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:12473800-12493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:12474000-12484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:12476000-12483200	Strong transcription	Primary B cells from cord blood	blood
21	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
22	chr16:12478200-12480400	Strong transcription	Primary T cells from cord blood	blood
23	chr16:12478400-12480600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:12478600-12480400	Enhancers	Ovary	ovary
25	chr16:12478600-12497400	Weak transcription	Pancreas	Pancrea
26	chr16:12478800-12483600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:12479000-12480200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:12479000-12480200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr16:12479200-12480600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr16:12479200-12486600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr16:12479400-12480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:12479400-12480800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:12479600-12480400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr16:12479600-12481800	Enhancers	Esophagus	oesophagus
35	chr16:12479800-12480200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr16:12479800-12480200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr16:12479800-12480400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr16:12479800-12480400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:12479800-12480400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:12479800-12480400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:12479800-12480400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:12479800-12480400	Enhancers	Brain Anterior Caudate	brain
43	chr16:12479800-12480400	Enhancers	Brain Germinal Matrix	brain
44	chr16:12479800-12480400	Enhancers	Brain Hippocampus Middle	brain
45	chr16:12479800-12480600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr16:12479800-12480800	Enhancers	Fetal Muscle Trunk	muscle
47	chr16:12479800-12482200	Enhancers	K562	blood
48	chr16:12480000-12480400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr16:12480000-12480400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:12480000-12480600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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