Variant report

Variant	rs2549832
Chromosome Location	chr16:81020141-81020142
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr16:81020124-81020513	SK-N-SH_RA	brain:	n/a	n/a
2	NFIC	chr16:81020078-81020684	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81010646..81012687-chr16:81017648..81020367,3	K562	blood:
2	chr16:81019105..81021887-chr16:81039011..81042107,3	MCF-7	breast:
3	chr16:81015364..81016919-chr16:81018878..81020602,2	K562	blood:
4	chr16:81017079..81020822-chr16:81021056..81026282,6	K562	blood:

Variant related genes	Relation type
CMC2	TF binding region
ENSG00000103121	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10492891	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11150335	0.85[EUR][1000 genomes]
rs12918429	1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16944339	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16944345	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs16944347	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16954366	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2011142	0.89[EUR][1000 genomes]
rs2167890	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549825	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2549831	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549842	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2549860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602450	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28659930	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970080	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2970082	1.00[ASN][1000 genomes]
rs3759933	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9921348	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9929815	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9931063	0.80[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9937731	1.00[CEU][hapmap]
rs9939934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	esv2753780	chr16:81010299-81028799	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80994600-81026400	Weak transcription	HSMMtube	muscle
2	chr16:80994800-81023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:81001000-81020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:81001400-81026400	Weak transcription	NHLF	lung
6	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:81003600-81026800	Weak transcription	Brain Substantia Nigra	brain
8	chr16:81004200-81025000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr16:81004600-81020400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:81005200-81030600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:81006600-81021400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr16:81006600-81029800	Weak transcription	Fetal Kidney	kidney
13	chr16:81007200-81030800	Weak transcription	Psoas Muscle	Psoas
14	chr16:81007600-81027000	Weak transcription	Fetal Brain Female	brain
15	chr16:81007800-81026600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:81008600-81026400	Weak transcription	NHDF-Ad	bronchial
17	chr16:81009000-81026800	Weak transcription	Fetal Lung	lung
18	chr16:81009200-81021200	Weak transcription	Pancreas	Pancrea
19	chr16:81009200-81024800	Weak transcription	Gastric	stomach
20	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
21	chr16:81009400-81026400	Weak transcription	Small Intestine	intestine
22	chr16:81009400-81026800	Weak transcription	Aorta	Aorta
23	chr16:81009800-81026000	Weak transcription	NH-A	brain
24	chr16:81010000-81030800	Weak transcription	Ovary	ovary
25	chr16:81012400-81020600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr16:81014000-81020200	Weak transcription	Right Ventricle	heart
27	chr16:81014000-81030600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:81014200-81024800	Weak transcription	Brain Hippocampus Middle	brain
30	chr16:81014400-81020200	Weak transcription	Primary T cells from cord blood	blood
31	chr16:81014400-81020200	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:81014400-81023200	Weak transcription	Osteobl	bone
33	chr16:81014400-81023400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:81014400-81024000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:81014400-81024800	Weak transcription	Primary B cells from cord blood	blood
36	chr16:81014400-81024800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr16:81014400-81024800	Weak transcription	Fetal Thymus	thymus
38	chr16:81014400-81025000	Weak transcription	Adipose Nuclei	Adipose
39	chr16:81014400-81026400	Weak transcription	Brain Anterior Caudate	brain
40	chr16:81014400-81026400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:81014400-81026400	Weak transcription	Placenta	Placenta
42	chr16:81014400-81026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr16:81014400-81030400	Weak transcription	Colon Smooth Muscle	Colon
44	chr16:81014400-81030800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:81014400-81037600	Weak transcription	Left Ventricle	heart
46	chr16:81014600-81020200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:81014600-81020200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr16:81014600-81023200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr16:81014600-81023400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:81014600-81023800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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