Variant report

Variant	rs16970267
Chromosome Location	chr16:70561455-70561456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr16:70561245-70561558	GM12878	blood:	n/a	n/a
2	CHD1	chr16:70561109-70561458	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:70561445-70561473	K562	blood:	n/a	n/a
4	E2F4	chr16:70561345-70561545	MCF10A-Er-Src	breast:	n/a	n/a
5	POU2F2	chr16:70561214-70561608	GM12878	blood:	n/a	n/a
6	EP300	chr16:70561322-70561486	GM12878	blood:	n/a	n/a
7	BHLHE40	chr16:70561265-70561465	GM12878	blood:	n/a	n/a
8	ELK1	chr16:70561347-70561489	GM12878	blood:	n/a	n/a
9	RUNX3	chr16:70561235-70561635	GM12878	blood:	n/a	n/a
10	NFYB	chr16:70561320-70561483	GM12878	blood:	n/a	n/a
11	BCL11A	chr16:70561309-70561504	GM12878	blood:	n/a	n/a
12	POLR2A	chr16:70560245-70561457	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70556775..70558967-chr16:70559981..70563082,4	K562	blood:
2	chr16:70321887..70324896-chr16:70556007..70561529,9	K562	blood:
3	chr16:70544700..70547086-chr16:70561359..70563295,2	MCF-7	breast:
4	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
5	chr16:70558865..70562951-chr16:70591784..70595478,3	MCF-7	breast:
6	chr16:70559458..70561590-chr16:70562032..70564631,5	K562	blood:
7	chr16:70379447..70384942-chr16:70556059..70561583,7	K562	blood:
8	chr16:70320190..70323478-chr16:70561149..70564718,3	K562	blood:
9	chr16:70413215..70416772-chr16:70556199..70563150,13	MCF-7	breast:
10	chr16:70560516..70563489-chr16:70597585..70599581,2	MCF-7	breast:
11	chr16:70559871..70561537-chr16:70612058..70614410,2	K562	blood:

No data

Variant related genes	Relation type
SNORD111B	TF binding region
COG4	TF binding region
ENSG00000103051	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000221514	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000157368	Chromatin interaction
ENSG00000261777	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16970247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17884111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35467022	0.81[AFR][1000 genomes]
rs60250447	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70558800-70561600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:70558800-70565200	Weak transcription	Aorta	Aorta
3	chr16:70559000-70561600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
4	chr16:70559000-70561600	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr16:70559200-70561600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr16:70559200-70561600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:70559400-70562400	Weak transcription	Ovary	ovary
8	chr16:70559400-70562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:70559400-70564200	Weak transcription	Esophagus	oesophagus
10	chr16:70559400-70564200	Weak transcription	Right Ventricle	heart
11	chr16:70559400-70564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:70559400-70606200	Strong transcription	Fetal Stomach	stomach
13	chr16:70559600-70562600	Weak transcription	HSMMtube	muscle
14	chr16:70559600-70562800	Weak transcription	Colonic Mucosa	Colon
15	chr16:70559600-70563200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:70559600-70563800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr16:70559600-70564200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:70559600-70564600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:70559600-70571400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr16:70559800-70562600	Weak transcription	Lung	lung
21	chr16:70559800-70564200	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr16:70560200-70561600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:70560200-70561600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
24	chr16:70560200-70561600	Transcr. at gene 5' and 3'	NH-A	brain
25	chr16:70560200-70561800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:70560200-70562600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:70560200-70563600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr16:70560400-70561600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
29	chr16:70560400-70561600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:70560400-70561600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:70560400-70561600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr16:70560400-70561600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
33	chr16:70560400-70561600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:70560400-70561600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
35	chr16:70560400-70561600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:70560400-70561600	Genic enhancers	Adipose Nuclei	Adipose
37	chr16:70560400-70561600	Genic enhancers	Brain Inferior Temporal Lobe	brain
38	chr16:70560400-70561600	Genic enhancers	Duodenum Mucosa	Duodenum
39	chr16:70560400-70561600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
40	chr16:70560400-70561600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
41	chr16:70560400-70561600	Transcr. at gene 5' and 3'	Hela-S3	cervix
42	chr16:70560400-70561600	Transcr. at gene 5' and 3'	Osteobl	bone
43	chr16:70560400-70561800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr16:70560400-70561800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
45	chr16:70560400-70561800	Transcr. at gene 5' and 3'	K562	blood
46	chr16:70560400-70563200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:70560400-70563200	Genic enhancers	Primary T cells from cord blood	blood
48	chr16:70560400-70564000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr16:70560400-70564600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr16:70560400-70565200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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