Variant report

Variant	rs6498291
Chromosome Location	chr16:12499171-12499172
allele	A/T
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:
2	chr16:12485157..12486773-chr16:12498470..12500396,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12923656	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7201310	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7205270	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9929233	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9930778	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6498291	C16orf63	cis	parietal	SCAN

Chromatin state (count:91 , 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	chr16:12485000-12501000	Weak transcription	NHEK	skin
4	chr16:12487400-12506400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr16:12487800-12499600	Weak transcription	Psoas Muscle	Psoas
6	chr16:12488200-12499200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr16:12489600-12501000	Weak transcription	NHDF-Ad	bronchial
8	chr16:12490200-12499400	Strong transcription	Primary T cells from cord blood	blood
9	chr16:12491800-12500400	Weak transcription	Right Atrium	heart
10	chr16:12492400-12501000	Weak transcription	Fetal Kidney	kidney
11	chr16:12492800-12501000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:12492800-12501000	Weak transcription	Osteobl	bone
13	chr16:12494600-12500200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:12495600-12500800	Weak transcription	Placenta	Placenta
15	chr16:12495800-12501600	Strong transcription	Primary B cells from cord blood	blood
16	chr16:12496000-12499200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:12496000-12499400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr16:12496000-12501000	Weak transcription	Fetal Lung	lung
19	chr16:12496000-12501400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:12496000-12501400	Weak transcription	Fetal Intestine Large	intestine
21	chr16:12496000-12503400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr16:12496200-12499600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:12496400-12501200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr16:12496600-12500600	Weak transcription	HepG2	liver
25	chr16:12496600-12502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:12496800-12499400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr16:12496800-12499400	Weak transcription	Dnd41	blood
28	chr16:12496800-12499600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:12497200-12501000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:12497200-12502200	Enhancers	Primary hematopoietic stem cells	blood
31	chr16:12497400-12499400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr16:12497600-12500400	Enhancers	HUVEC	blood vessel
33	chr16:12497800-12499400	Enhancers	Fetal Thymus	thymus
34	chr16:12497800-12500800	Weak transcription	A549	lung
35	chr16:12497800-12505000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:12497800-12519600	Weak transcription	Brain Anterior Caudate	brain
37	chr16:12497800-12539800	Weak transcription	Left Ventricle	heart
38	chr16:12498000-12499400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:12498000-12499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:12498000-12499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr16:12498000-12499800	Enhancers	Ovary	ovary
42	chr16:12498000-12500600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:12498000-12500800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:12498000-12500800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:12498000-12500800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr16:12498000-12500800	Weak transcription	NHLF	lung
47	chr16:12498000-12506800	Weak transcription	HSMMtube	muscle
48	chr16:12498000-12510800	Weak transcription	Spleen	Spleen
49	chr16:12498000-12511600	Weak transcription	Fetal Muscle Leg	muscle
50	chr16:12498000-12515400	Weak transcription	Pancreas	Pancrea

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