Variant report

Variant	rs8057327
Chromosome Location	chr16:70560819-70560820
allele	C/T
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	POLR2A	chr16:70560198-70560856	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr16:70560726-70561191	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr16:70560453-70560857	Hela-S3	cervix:	n/a	n/a
4	FOS	chr16:70560719-70561006	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr16:70560736-70560916	MCF-7	breast:	n/a	n/a
6	POLR2A	chr16:70560510-70561194	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr16:70560761-70560973	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr16:70560651-70561000	MCF10A-Er-Src	breast:	n/a	chr16:70560827-70560835
9	CEBPB	chr16:70560732-70560996	HepG2	liver:	n/a	chr16:70560826-70560835 chr16:70560824-70560835
10	STAT3	chr16:70560698-70560963	MCF10A-Er-Src	breast:	n/a	chr16:70560827-70560835
11	POLR2A	chr16:70560726-70560960	HepG2	liver:	n/a	n/a
12	E2F4	chr16:70560645-70560986	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr16:70560629-70561004	Hela-S3	cervix:	n/a	chr16:70560826-70560835 chr16:70560824-70560835
14	POLR2A	chr16:70560245-70561457	HepG2	liver:	n/a	n/a
15	FOS	chr16:70560692-70560824	MCF10A-Er-Src	breast:	n/a	n/a

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	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
4	chr16:70558865..70562951-chr16:70591784..70595478,3	MCF-7	breast:
5	chr16:70559458..70561590-chr16:70562032..70564631,5	K562	blood:
6	chr16:70379447..70384942-chr16:70556059..70561583,7	K562	blood:
7	chr16:70413215..70416772-chr16:70556199..70563150,13	MCF-7	breast:
8	chr16:70413177..70417869-chr16:70554702..70561133,15	MCF-7	breast:
9	chr16:70560516..70563489-chr16:70597585..70599581,2	MCF-7	breast:
10	chr16:70559871..70561537-chr16:70612058..70614410,2	K562	blood:

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

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs13331220	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332431	1.00[TSI][hapmap]
rs13334577	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13339216	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339561	1.00[AMR][1000 genomes]
rs13339593	1.00[AMR][1000 genomes]
rs13339643	1.00[AMR][1000 genomes]
rs16970226	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970240	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970243	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970253	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970259	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970260	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878662	1.00[AMR][1000 genomes]
rs17879275	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs17881316	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17885165	1.00[AMR][1000 genomes]
rs17886111	1.00[AMR][1000 genomes]
rs28419202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28619389	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28777081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55667445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55885171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55926204	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56189591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57451547	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58142695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58144908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58885322	1.00[EUR][1000 genomes]
rs59158714	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59460917	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60757048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61641432	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61692284	1.00[EUR][1000 genomes]
rs6499318	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185011	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185462	1.00[EUR][1000 genomes]
rs7186436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188297	1.00[AMR][1000 genomes]
rs7188474	1.00[AMR][1000 genomes]
rs7188808	1.00[AMR][1000 genomes]
rs7191191	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193228	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7196773	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7199312	1.00[AMR][1000 genomes]
rs7200034	1.00[MEX][hapmap]
rs7200586	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200978	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573163	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73573175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578815	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578819	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8049929	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050767	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050782	1.00[EUR][1000 genomes]
rs8051473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057732	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057766	0.90[LWK][hapmap];1.00[MEX][hapmap]
rs8058754	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059200	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061243	1.00[AMR][1000 genomes]
rs8061431	1.00[AMR][1000 genomes]
rs8062414	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs8062794	1.00[AMR][1000 genomes]
rs9302615	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921410	1.00[AMR][1000 genomes]
rs9921696	0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs9924352	1.00[MEX][hapmap]
rs9925510	0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs9926355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926435	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928617	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9928808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929182	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929354	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929882	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932065	1.00[AMR][1000 genomes]
rs9932939	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933022	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939252	0.88[AFR][1000 genomes]
rs9940353	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];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	chr16:70558200-70561200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
2	chr16:70558800-70561600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:70558800-70565200	Weak transcription	Aorta	Aorta
4	chr16:70559000-70561000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:70559000-70561400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
6	chr16:70559000-70561600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
7	chr16:70559000-70561600	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr16:70559200-70561000	Enhancers	Gastric	stomach
9	chr16:70559200-70561600	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr16:70559200-70561600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:70559400-70561000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr16:70559400-70562400	Weak transcription	Ovary	ovary
13	chr16:70559400-70562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:70559400-70564200	Weak transcription	Esophagus	oesophagus
15	chr16:70559400-70564200	Weak transcription	Right Ventricle	heart
16	chr16:70559400-70564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:70559400-70606200	Strong transcription	Fetal Stomach	stomach
18	chr16:70559600-70561000	Genic enhancers	Fetal Thymus	thymus
19	chr16:70559600-70561400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:70559600-70561400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr16:70559600-70561400	Genic enhancers	Fetal Intestine Small	intestine
22	chr16:70559600-70562600	Weak transcription	HSMMtube	muscle
23	chr16:70559600-70562800	Weak transcription	Colonic Mucosa	Colon
24	chr16:70559600-70563200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:70559600-70563800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr16:70559600-70564200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr16:70559600-70564600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:70559600-70571400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr16:70559800-70562600	Weak transcription	Lung	lung
30	chr16:70559800-70564200	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr16:70560000-70561200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
32	chr16:70560200-70561000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:70560200-70561000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
34	chr16:70560200-70561000	Genic enhancers	Thymus	Thymus
35	chr16:70560200-70561000	Transcr. at gene 5' and 3'	HepG2	liver
36	chr16:70560200-70561200	Genic enhancers	Liver	Liver
37	chr16:70560200-70561200	Genic enhancers	Brain Cingulate Gyrus	brain
38	chr16:70560200-70561200	Strong transcription	Colon Smooth Muscle	Colon
39	chr16:70560200-70561400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:70560200-70561600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:70560200-70561600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
42	chr16:70560200-70561600	Transcr. at gene 5' and 3'	NH-A	brain
43	chr16:70560200-70561800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:70560200-70562600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:70560200-70563600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr16:70560400-70561000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
47	chr16:70560400-70561000	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr16:70560400-70561000	Genic enhancers	Primary hematopoietic stem cells	blood
49	chr16:70560400-70561000	Genic enhancers	Fetal Brain Male	brain
50	chr16:70560400-70561000	Genic enhancers	Pancreatic Islets	Pancreatic Islet

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