Variant report

Variant	rs16944343
Chromosome Location	chr16:81007244-81007245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81006336..81010251-chr16:81016347..81019319,3	K562	blood:
2	chr16:81001788..81003366-chr16:81003777..81008120,3	K562	blood:
3	chr16:81006406..81009066-chr16:81012697..81014236,2	K562	blood:
4	chr16:81005392..81007770-chr16:81008815..81010427,2	K562	blood:
5	chr16:81006720..81008991-chr16:81041065..81043268,2	MCF-7	breast:
6	chr16:81005749..81007620-chr16:81026993..81029850,2	K562	blood:

Variant related genes	Relation type
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13331285	0.90[ASN][1000 genomes]
rs13331458	0.90[ASN][1000 genomes]
rs13337497	0.83[ASN][1000 genomes]
rs16944340	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16944344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954368	0.86[CHB][hapmap];0.92[ASN][1000 genomes]
rs16954370	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16954379	0.95[ASN][1000 genomes]
rs16954399	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs2081215	0.91[ASN][1000 genomes]
rs2081216	0.91[ASN][1000 genomes]
rs2303215	0.92[ASN][1000 genomes]
rs2303216	0.86[CHB][hapmap];0.92[ASN][1000 genomes]
rs2549851	0.88[YRI][hapmap]
rs28532906	0.97[ASN][1000 genomes]
rs28544251	0.90[ASN][1000 genomes]
rs28635633	0.90[ASN][1000 genomes]
rs2911153	1.00[YRI][hapmap]
rs3784815	0.87[AMR][1000 genomes]
rs3826049	0.87[AMR][1000 genomes]
rs4514692	0.97[ASN][1000 genomes]
rs61540150	0.83[ASN][1000 genomes]
rs62054244	0.98[ASN][1000 genomes]
rs62054245	0.97[ASN][1000 genomes]
rs62054248	0.88[ASN][1000 genomes]
rs62054250	0.92[ASN][1000 genomes]
rs62056080	0.92[ASN][1000 genomes]
rs8045514	0.94[ASN][1000 genomes]
rs804884	1.00[YRI][hapmap]
rs804891	1.00[YRI][hapmap]
rs935939	1.00[YRI][hapmap]
rs935940	1.00[YRI][hapmap]
rs9935739	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2756816	chr16:80972279-81027142	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2758663	chr16:80972279-81027142	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv817744	chr16:80989859-81027685	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv11135	chr16:80997245-81028812	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv573337	chr16:80997892-81027685	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1061745	chr16:80998523-81029147	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16944343	CENPN	cis	multi-tissue	Pritchard
rs16944343	C16orf61	cis	multi-tissue	Pritchard

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80989400-81008800	Weak transcription	Gastric	stomach
2	chr16:80994600-81007800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:80994600-81026400	Weak transcription	HSMMtube	muscle
4	chr16:80994800-81023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:80996000-81007400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:80996200-81008600	Weak transcription	Aorta	Aorta
7	chr16:80996600-81018600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:80997800-81008800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:80998000-81009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:80998200-81009400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:80998200-81013800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:80998600-81008000	Weak transcription	NHDF-Ad	bronchial
14	chr16:80998600-81014800	Weak transcription	Brain Angular Gyrus	brain
15	chr16:81000200-81007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:81000200-81008000	Weak transcription	NHEK	skin
17	chr16:81001000-81020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:81001200-81007600	Weak transcription	Primary B cells from cord blood	blood
19	chr16:81001200-81008200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr16:81001200-81008600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:81001200-81008800	Weak transcription	Spleen	Spleen
22	chr16:81001200-81013600	Weak transcription	Brain Hippocampus Middle	brain
23	chr16:81001400-81008400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:81001400-81010200	Weak transcription	Colonic Mucosa	Colon
25	chr16:81001400-81013800	Weak transcription	Brain Anterior Caudate	brain
26	chr16:81001400-81026400	Weak transcription	NHLF	lung
27	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:81001600-81007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:81001600-81007600	Weak transcription	Fetal Muscle Leg	muscle
30	chr16:81001600-81008600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr16:81001600-81008800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:81001800-81008800	Weak transcription	Ovary	ovary
33	chr16:81002000-81007600	Weak transcription	Placenta	Placenta
34	chr16:81002000-81013800	Weak transcription	Brain Germinal Matrix	brain
35	chr16:81002200-81008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr16:81002400-81007800	Weak transcription	K562	blood
37	chr16:81002400-81008600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr16:81002400-81013200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr16:81002600-81008200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:81002600-81008800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr16:81002600-81008800	Weak transcription	Thymus	Thymus
42	chr16:81002600-81010000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr16:81002600-81012200	Weak transcription	Adipose Nuclei	Adipose
44	chr16:81002600-81013000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr16:81002600-81013000	Weak transcription	Fetal Intestine Large	intestine
46	chr16:81002600-81019400	Weak transcription	HMEC	breast
47	chr16:81002800-81008400	Weak transcription	Fetal Lung	lung
48	chr16:81002800-81008800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr16:81002800-81008800	Weak transcription	Small Intestine	intestine
50	chr16:81002800-81017800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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