Variant report

Variant	rs8048478
Chromosome Location	chr16:77245573-77245574
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:77244938-77247549	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr16:77245531-77246644	A549	lung:	n/a	n/a
3	POLR2A	chr16:77245385-77247178	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr16:77245178-77247934	PFSK-1	brain:	n/a	n/a
5	BHLHE40	chr16:77245540-77245647	K562	blood:	n/a	n/a
6	HMGN3	chr16:77245288-77245579	K562	blood:	n/a	n/a
7	POLR2A	chr16:77244973-77249418	PFSK-1	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:77224814..77227187-chr16:77245098..77247161,3	K562	blood:
2	chr16:77245255..77245822-chr20:52267825..52268342,2	MCF-7	breast:
3	chr16:77223598..77226407-chr16:77245076..77246907,2	MCF-7	breast:
4	chr16:77223923..77226639-chr16:77244818..77248823,8	K562	blood:
5	chr16:77225300..77227094-chr16:77244120..77246217,2	MCF-7	breast:

No data

Variant related genes	Relation type
SYCE1L	TF binding region
ENSG00000103111	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1019565	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11149971	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11544783	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11860898	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11863718	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12931673	0.90[ASN][1000 genomes]
rs13329731	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13329816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13330279	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13330367	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13332812	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13336198	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337994	0.90[ASN][1000 genomes]
rs13339324	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1428838	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1428839	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2017197	1.00[ASN][1000 genomes]
rs28539358	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61746433	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564417	0.90[ASN][1000 genomes]
rs7184776	0.91[ASN][1000 genomes]
rs7188241	0.90[ASN][1000 genomes]
rs719053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7198006	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7198588	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7201284	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7203467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73627401	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633620	0.90[ASN][1000 genomes]
rs73633624	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633633	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633644	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633647	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633654	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73633661	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7501191	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9924958	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9925431	0.89[AMR][1000 genomes]
rs9929722	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9931082	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9931400	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9935921	0.90[ASN][1000 genomes]
rs9936182	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9937408	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9937693	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9938871	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77227000-77246000	Weak transcription	Fetal Heart	heart
2	chr16:77227200-77245800	Weak transcription	Fetal Kidney	kidney
3	chr16:77227200-77247200	Weak transcription	Hela-S3	cervix
4	chr16:77233200-77245600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:77233200-77245600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:77233200-77245800	Weak transcription	NHEK	skin
7	chr16:77233400-77245600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:77233400-77245600	Weak transcription	HMEC	breast
9	chr16:77233400-77245600	Weak transcription	NH-A	brain
10	chr16:77233400-77246000	Weak transcription	Aorta	Aorta
11	chr16:77233400-77246000	Weak transcription	Brain Angular Gyrus	brain
12	chr16:77233400-77246000	Weak transcription	Brain Substantia Nigra	brain
13	chr16:77233800-77245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:77233800-77245600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr16:77233800-77245600	Weak transcription	Brain Germinal Matrix	brain
16	chr16:77233800-77245600	Weak transcription	Fetal Lung	lung
17	chr16:77233800-77245600	Weak transcription	HUVEC	blood vessel
18	chr16:77233800-77245800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr16:77233800-77245800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr16:77233800-77245800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:77233800-77245800	Weak transcription	Fetal Brain Female	brain
22	chr16:77233800-77245800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr16:77233800-77246000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr16:77233800-77246000	Weak transcription	HSMMtube	muscle
25	chr16:77234000-77245600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr16:77234000-77245600	Weak transcription	Esophagus	oesophagus
27	chr16:77234000-77245600	Weak transcription	Thymus	Thymus
28	chr16:77234000-77245800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:77234000-77245800	Weak transcription	Brain Anterior Caudate	brain
30	chr16:77234200-77246000	Weak transcription	Lung	lung
31	chr16:77235200-77245800	Weak transcription	GM12878-XiMat	blood
32	chr16:77235200-77245800	Weak transcription	HSMM	muscle
33	chr16:77235200-77246000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:77235600-77245600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr16:77235600-77245600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr16:77235600-77245600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr16:77235600-77245600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr16:77235600-77245600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:77235600-77245600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:77235600-77245600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr16:77235600-77245600	Weak transcription	Placenta	Placenta
42	chr16:77235600-77245600	Weak transcription	Fetal Thymus	thymus
43	chr16:77235600-77245800	Weak transcription	Psoas Muscle	Psoas
44	chr16:77235600-77246000	Weak transcription	Liver	Liver
45	chr16:77235600-77246000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr16:77236600-77245600	Weak transcription	Primary T cells from cord blood	blood
47	chr16:77240800-77245800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:77241000-77245600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:77241600-77245600	Weak transcription	Adipose Nuclei	Adipose
50	chr16:77241600-77246000	Weak transcription	Left Ventricle	heart

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