Variant report

Variant	rs7202141
Chromosome Location	chr16:81004307-81004308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81004010..81005994-chr16:81040056..81041690,2	K562	blood:
2	chr16:81001788..81003366-chr16:81003777..81008120,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CENPN-1	chr16:81003707-81005460	NONHSAT143915

Variant related genes	Relation type
ENSG00000103121	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28405192	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35583401	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564804	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7185929	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7199497	0.93[CEU][hapmap]
rs8045504	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8052361	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8054774	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8056592	0.93[CEU][hapmap]
rs8061249	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	esv3383896	chr16:81004252-81004371	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

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	chr16:80998600-81005800	Weak transcription	GM12878-XiMat	blood
14	chr16:80998600-81008000	Weak transcription	NHDF-Ad	bronchial
15	chr16:80998600-81014800	Weak transcription	Brain Angular Gyrus	brain
16	chr16:81000200-81006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:81000200-81007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:81000200-81008000	Weak transcription	NHEK	skin
19	chr16:81001000-81005800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:81001000-81020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:81001200-81005800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr16:81001200-81007600	Weak transcription	Primary B cells from cord blood	blood
23	chr16:81001200-81008200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr16:81001200-81008600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:81001200-81008800	Weak transcription	Spleen	Spleen
26	chr16:81001200-81013600	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:81001400-81006400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:81001400-81006600	Weak transcription	Left Ventricle	heart
29	chr16:81001400-81008400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:81001400-81010200	Weak transcription	Colonic Mucosa	Colon
31	chr16:81001400-81013800	Weak transcription	Brain Anterior Caudate	brain
32	chr16:81001400-81026400	Weak transcription	NHLF	lung
33	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:81001600-81006400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr16:81001600-81006800	Weak transcription	Fetal Intestine Small	intestine
36	chr16:81001600-81007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:81001600-81007600	Weak transcription	Fetal Muscle Leg	muscle
38	chr16:81001600-81008600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr16:81001600-81008800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr16:81001800-81006800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:81001800-81008800	Weak transcription	Ovary	ovary
42	chr16:81002000-81007600	Weak transcription	Placenta	Placenta
43	chr16:81002000-81013800	Weak transcription	Brain Germinal Matrix	brain
44	chr16:81002200-81006000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:81002200-81008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr16:81002400-81007000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:81002400-81007800	Weak transcription	K562	blood
48	chr16:81002400-81008600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr16:81002400-81013200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr16:81002600-81004600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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