Variant report

Variant	rs6498314
Chromosome Location	chr16:12616169-12616170
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	chr16:12615906..12618586-chr16:12621155..12622694,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1894967	0.81[EUR][1000 genomes]
rs190013	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28387054	0.83[ASN][1000 genomes]
rs28582575	0.83[ASN][1000 genomes]
rs28736822	0.83[ASN][1000 genomes]
rs762792	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs9924730	0.80[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	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
3	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
4	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
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6498314	PRM3	cis	parietal	SCAN
rs6498314	KIAA0430	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12564800-12618400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr16:12573400-12618600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr16:12598800-12622000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:12601400-12625400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:12602200-12622600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:12603200-12626400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:12605000-12619600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr16:12605600-12625000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:12605800-12632200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:12606000-12623600	Weak transcription	Gastric	stomach
11	chr16:12606000-12632000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:12606200-12632400	Weak transcription	Right Atrium	heart
13	chr16:12607000-12623600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:12607000-12625600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr16:12607800-12626200	Weak transcription	Brain Germinal Matrix	brain
16	chr16:12608000-12618200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:12608000-12632400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:12608200-12624000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:12608400-12623800	Weak transcription	Brain Angular Gyrus	brain
20	chr16:12608400-12623800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:12608400-12623800	Weak transcription	Brain Substantia Nigra	brain
22	chr16:12608800-12623600	Weak transcription	Brain Hippocampus Middle	brain
23	chr16:12609000-12623600	Weak transcription	Brain Anterior Caudate	brain
24	chr16:12609200-12619800	Weak transcription	GM12878-XiMat	blood
25	chr16:12609600-12620200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:12609600-12623600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr16:12609600-12623800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:12610000-12617000	Weak transcription	Spleen	Spleen
29	chr16:12610000-12619600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr16:12610000-12625000	Weak transcription	Fetal Stomach	stomach
31	chr16:12610000-12632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:12610800-12632200	Weak transcription	Psoas Muscle	Psoas
33	chr16:12611600-12632400	Weak transcription	Left Ventricle	heart
34	chr16:12612000-12618400	Weak transcription	Lung	lung
35	chr16:12612000-12625400	Weak transcription	Ovary	ovary
36	chr16:12612200-12618200	Weak transcription	Primary B cells from cord blood	blood
37	chr16:12612200-12623800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr16:12612400-12626600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:12612400-12626600	Weak transcription	Right Ventricle	heart
40	chr16:12612400-12632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:12612600-12617200	Weak transcription	Esophagus	oesophagus
42	chr16:12612600-12618200	Weak transcription	Primary T cells from cord blood	blood
43	chr16:12612600-12623000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:12612600-12626400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr16:12612800-12618400	Weak transcription	Adipose Nuclei	Adipose
46	chr16:12613000-12625400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
48	chr16:12614400-12622400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:12614400-12623400	Weak transcription	Placenta	Placenta
50	chr16:12615800-12617000	Weak transcription	Primary B cells from peripheral blood	blood

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