Variant report

Variant	rs8053657
Chromosome Location	chr16:70409085-70409086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr16:70408691-70409235	K562	blood:	n/a	n/a
2	POLR2A	chr16:70407276-70410478	GM12892	blood:	n/a	n/a
3	POLR2A	chr16:70406296-70410723	U87	brain:	n/a	n/a
4	POLR2A	chr16:70408826-70409512	K562	blood:	n/a	n/a
5	POLR2A	chr16:70408123-70409539	U87	brain:	n/a	n/a
6	POLR2A	chr16:70408139-70410520	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:70405324-70410769	MCF-7	breast:	n/a	n/a
8	POLR2A	chr16:70408866-70410894	GM12892	blood:	n/a	n/a
9	POLR2A	chr16:70408427-70409489	GM18505	blood:	n/a	n/a
10	POLR2A	chr16:70408562-70409187	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:70408755-70409715	K562	blood:	n/a	n/a
12	POLR2A	chr16:70408253-70409545	K562	blood:	n/a	n/a
13	POU2F2	chr16:70408971-70409376	GM12891	blood:	n/a	n/a
14	POLR2A	chr16:70408726-70409557	GM12891	blood:	n/a	n/a
15	POLR2A	chr16:70405928-70416221	K562	blood:	n/a	n/a
16	POLR2A	chr16:70408870-70409602	GM12891	blood:	n/a	n/a
17	POLR2A	chr16:70407299-70416500	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:70408258-70410731	GM12878	blood:	n/a	n/a
19	NFATC1	chr16:70408693-70409574	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:70409023-70409390	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr16:70408871-70409564	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr16:70408139-70409565	U87	brain:	n/a	n/a
23	POLR2A	chr16:70408124-70410831	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr16:70409048-70409420	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr16:70409039-70409462	SK-N-MC	brain:	n/a	n/a
26	BCL3	chr16:70408760-70410124	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:70408843-70409553	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr16:70408774-70409580	GM12892	blood:	n/a	n/a
29	POLR2A	chr16:70408925-70410606	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr16:70409039-70409477	GM12891	blood:	n/a	n/a
31	POLR2A	chr16:70408059-70409659	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr16:70408592-70409532	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr16:70409017-70409441	K562	blood:	n/a	n/a
34	BCL3	chr16:70408898-70409662	A549	lung:	n/a	n/a
35	POLR2A	chr16:70409040-70409505	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr16:70404846-70410894	GM12878	blood:	n/a	n/a
37	POLR2A	chr16:70408804-70409088	HCT-116	colon:	n/a	n/a
38	POLR2A	chr16:70408990-70409501	K562	blood:	n/a	n/a
39	POLR2A	chr16:70408273-70409542	HepG2	liver:	n/a	n/a
40	POLR2A	chr16:70408212-70409543	K562	blood:	n/a	n/a
41	ELF1	chr16:70409057-70409387	GM12878	blood:	n/a	n/a
42	POLR2A	chr16:70407070-70411182	GM12891	blood:	n/a	n/a
43	PML	chr16:70408657-70409628	GM12878	blood:	n/a	n/a
44	MTA3	chr16:70408195-70409598	GM12878	blood:	n/a	n/a
45	POLR2A	chr16:70408355-70409504	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr16:70408883-70409407	GM12878	blood:	n/a	n/a
47	POLR2A	chr16:70409001-70409499	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr16:70408996-70409680	K562	blood:	n/a	n/a
49	POLR2A	chr16:70409005-70409412	GM12878	blood:	n/a	n/a
50	POLR2A	chr16:70408083-70410792	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:70408470..70409240-chr9:7799247..7799915,2	NB4	blood:
2	chr16:70397691..70399397-chr16:70409002..70410941,2	K562	blood:
3	chr16:70408425..70412469-chr16:70501223..70503201,4	MCF-7	breast:
4	chr16:70402213..70405460-chr16:70405653..70409896,4	K562	blood:
5	chr16:70380932..70385143-chr16:70404657..70409914,6	MCF-7	breast:
6	chr16:70408756..70411643-chr16:70690769..70692311,2	MCF-7	breast:
7	chr16:70397078..70399883-chr16:70405233..70409142,3	MCF-7	breast:
8	chr16:70402213..70407234-chr16:70407266..70410953,6	K562	blood:
9	chr16:70382796..70385300-chr16:70408811..70411389,2	K562	blood:
10	chr16:70400513..70403701-chr16:70406827..70410088,3	MCF-7	breast:
11	chr16:70409061..70411371-chr16:70561272..70563423,2	MCF-7	breast:
12	chr16:70409036..70411924-chr16:70413991..70417469,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260111	TF binding region
ENSG00000168872	Chromatin interaction
ENSG00000221514	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs11859191	1.00[EUR][1000 genomes]
rs11860870	0.82[AFR][1000 genomes]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863943	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864179	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864326	0.82[AFR][1000 genomes]
rs11865484	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865564	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16970121	1.00[EUR][1000 genomes]
rs16970141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970147	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970149	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970151	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970152	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970153	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970165	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970302	1.00[EUR][1000 genomes]
rs16970609	0.81[AFR][1000 genomes]
rs17878609	1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17879665	0.83[AMR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17880268	0.81[AFR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	1.00[EUR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55775924	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55916527	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55936739	1.00[EUR][1000 genomes]
rs56043981	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56050266	1.00[EUR][1000 genomes]
rs56082018	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56096542	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56217164	0.81[AFR][1000 genomes]
rs56234537	0.81[AFR][1000 genomes]
rs56348821	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57150196	0.91[AMR][1000 genomes]
rs57279408	0.81[AFR][1000 genomes]
rs57422630	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57623576	0.81[AFR][1000 genomes]
rs58047061	1.00[EUR][1000 genomes]
rs58055772	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59260159	0.91[AMR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59552467	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs59791510	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59928915	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60011151	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60387488	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs60523557	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60646112	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60815141	1.00[EUR][1000 genomes]
rs61266247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61284127	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61319691	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61369696	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61391917	0.81[AFR][1000 genomes]
rs6499312	1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7184248	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7188864	1.00[EUR][1000 genomes]
rs7190536	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7190921	1.00[EUR][1000 genomes]
rs7192000	1.00[EUR][1000 genomes]
rs7195086	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195104	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7195567	0.83[AFR][1000 genomes]
rs7198871	1.00[EUR][1000 genomes]
rs7199346	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7199655	1.00[EUR][1000 genomes]
rs7203772	0.80[AMR][1000 genomes]
rs7205871	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7205918	1.00[EUR][1000 genomes]
rs7205990	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7206347	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024182	1.00[EUR][1000 genomes]
rs74024183	1.00[EUR][1000 genomes]
rs74024184	1.00[EUR][1000 genomes]
rs74024185	1.00[EUR][1000 genomes]
rs74024186	1.00[EUR][1000 genomes]
rs74024188	1.00[EUR][1000 genomes]
rs74024193	0.80[AFR][1000 genomes]
rs74024196	0.81[AFR][1000 genomes]
rs74024199	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024200	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74026022	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026026	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026033	1.00[EUR][1000 genomes]
rs74026049	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045571	1.00[EUR][1000 genomes]
rs8046253	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046280	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8046662	1.00[EUR][1000 genomes]
rs8046786	1.00[EUR][1000 genomes]
rs8049046	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050252	0.91[AMR][1000 genomes]
rs8051869	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8053040	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8054203	1.00[EUR][1000 genomes]
rs8056811	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058735	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8062602	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8064090	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	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
3	nsv978332	chr16:70398058-70410365	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 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	chr16:70381600-70413200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:70381600-70414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:70382200-70413600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70382600-70413000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:70382800-70409800	Strong transcription	Fetal Muscle Leg	muscle
6	chr16:70382800-70410800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:70382800-70410800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr16:70383000-70410200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr16:70383000-70410600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr16:70383000-70410800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:70383000-70413000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:70383000-70413000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:70383000-70413000	Strong transcription	Fetal Thymus	thymus
14	chr16:70383200-70412200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:70383200-70413000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:70383200-70413400	Strong transcription	Fetal Stomach	stomach
17	chr16:70383400-70410600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr16:70383400-70411000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr16:70383400-70411000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:70383600-70412200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:70383600-70413200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:70383600-70413400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr16:70383600-70413600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:70383800-70410600	Strong transcription	Liver	Liver
25	chr16:70384400-70411000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:70384400-70411400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:70384600-70413400	Strong transcription	Fetal Intestine Small	intestine
28	chr16:70385200-70410800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr16:70385200-70410800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr16:70385400-70410200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:70385600-70410400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr16:70385800-70410200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr16:70386000-70413400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:70386200-70410400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:70387800-70414000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr16:70388400-70410400	Strong transcription	Left Ventricle	heart
37	chr16:70388400-70410600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:70388400-70410600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr16:70388400-70410600	Strong transcription	Fetal Intestine Large	intestine
40	chr16:70388400-70410600	Strong transcription	Placenta	Placenta
41	chr16:70388400-70410600	Strong transcription	Thymus	Thymus
42	chr16:70388400-70411000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:70388600-70410400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr16:70388600-70410600	Strong transcription	Lung	lung
45	chr16:70388600-70411400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr16:70388800-70410600	Strong transcription	Spleen	Spleen
47	chr16:70389200-70410400	Strong transcription	Brain Hippocampus Middle	brain
48	chr16:70391400-70410600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:70393800-70413000	Weak transcription	Fetal Heart	heart
50	chr16:70397200-70413000	Strong transcription	Dnd41	blood

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