Variant report

Variant	rs8062602
Chromosome Location	chr16:70487634-70487635
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr16:70487627-70488459	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:70487580-70489095	GM12891	blood:	n/a	n/a
3	TBP	chr16:70487554-70488312	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:70487582-70489053	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr16:70487306-70488395	HepG2	liver:	n/a	n/a
6	SMC3	chr16:70487524-70487641	GM12878	blood:	n/a	n/a
7	TBP	chr16:70487535-70488620	K562	blood:	n/a	n/a
8	TBP	chr16:70487487-70487932	GM12878	blood:	n/a	n/a
9	EP300	chr16:70487552-70487659	K562	blood:	n/a	n/a
10	POLR2A	chr16:70487623-70488284	HepG2	liver:	n/a	n/a
11	HEY1	chr16:70487534-70488190	K562	blood:	n/a	n/a
12	MAX	chr16:70487561-70489020	Hela-S3	cervix:	n/a	chr16:70488363-70488373
13	HEY1	chr16:70487533-70488877	HepG2	liver:	n/a	n/a
14	MXI1	chr16:70487217-70489403	SK-N-SH	brain:	n/a	n/a
15	RCOR1	chr16:70487509-70488872	K562	blood:	n/a	n/a
16	HCFC1	chr16:70487282-70489721	Hela-S3	cervix:	n/a	n/a
17	RELA	chr16:70487568-70488710	GM19099	blood:	n/a	n/a
18	PML	chr16:70487462-70488969	GM12878	blood:	n/a	n/a
19	SIN3A	chr16:70487542-70488980	H1-hESC	embryonic stem cell:	n/a	n/a
20	MTA3	chr16:70487494-70488299	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:70487595-70488194	K562	blood:	n/a	n/a
22	POLR2A	chr16:70487632-70488894	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70486960..70490351-chr16:70556167..70558867,5	MCF-7	breast:
2	chr16:70485245..70488072-chr16:70494392..70496535,2	K562	blood:
3	chr16:70469678..70473680-chr16:70486697..70489592,5	K562	blood:
4	chr16:70379511..70381084-chr16:70487337..70489597,2	MCF-7	breast:
5	chr16:70486978..70488689-chr16:70557336..70559027,2	MCF-7	breast:
6	chr16:70470174..70475385-chr16:70486021..70489021,8	K562	blood:
7	chr16:70472361..70474333-chr16:70486789..70489619,2	MCF-7	breast:
8	chr16:70390592..70393385-chr16:70487447..70489700,3	MCF-7	breast:
9	chr16:70412581..70417154-chr16:70486443..70491865,11	MCF-7	breast:
10	chr16:70413028..70417887-chr16:70485225..70490092,12	MCF-7	breast:
11	chr16:70444656..70446318-chr16:70486417..70488147,2	MCF-7	breast:
12	chr16:70472717..70474630-chr16:70487093..70489671,2	MCF-7	breast:
13	chr16:70486101..70489000-chr16:70557661..70559379,2	K562	blood:

No data

Variant related genes	Relation type
FUK	TF binding region
ENSG00000260111	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000261777	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs11859191	1.00[EUR][1000 genomes]
rs11859870	0.84[AMR][1000 genomes]
rs11861486	0.84[AMR][1000 genomes]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863943	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864179	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864326	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865484	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970121	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970133	0.84[AMR][1000 genomes]
rs16970141	0.81[AFR][1000 genomes]
rs16970147	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970149	0.91[AMR][1000 genomes]
rs16970151	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16970152	0.91[AMR][1000 genomes]
rs16970153	0.91[AMR][1000 genomes]
rs16970159	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970165	0.91[AMR][1000 genomes]
rs16970169	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970302	1.00[EUR][1000 genomes]
rs17878609	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17879665	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17880268	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35904382	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4999488	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55775924	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55916527	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55936739	1.00[EUR][1000 genomes]
rs56043981	0.81[AMR][1000 genomes]
rs56050266	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56082018	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56096542	0.81[AMR][1000 genomes]
rs56348821	0.91[AMR][1000 genomes]
rs56836664	0.84[AMR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57422630	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58047061	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58055772	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59552467	0.91[AMR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs59791510	0.81[AMR][1000 genomes]
rs60011151	0.91[AMR][1000 genomes]
rs60045805	0.84[AMR][1000 genomes]
rs60387488	0.91[AMR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs60523557	0.81[AMR][1000 genomes]
rs60646112	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61266247	0.82[AFR][1000 genomes]
rs61284127	0.91[AMR][1000 genomes]
rs61319691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61369696	0.91[AMR][1000 genomes]
rs6499312	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7184248	0.81[AMR][1000 genomes]
rs7188864	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7190536	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7190921	1.00[EUR][1000 genomes]
rs7192000	1.00[EUR][1000 genomes]
rs7195086	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195104	0.91[AMR][1000 genomes]
rs7198871	1.00[EUR][1000 genomes]
rs7199346	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199655	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203548	0.84[AMR][1000 genomes]
rs7203761	0.84[AMR][1000 genomes]
rs7205871	0.81[AMR][1000 genomes]
rs7205918	1.00[EUR][1000 genomes]
rs7205990	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7206347	1.00[AFR][1000 genomes];1.00[AMR][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]
rs74024199	0.81[AMR][1000 genomes]
rs74024200	0.81[AMR][1000 genomes]
rs74026022	1.00[EUR][1000 genomes]
rs74026026	0.91[AMR][1000 genomes]
rs74026033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026049	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045571	1.00[EUR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046280	0.81[AMR][1000 genomes]
rs8046662	1.00[EUR][1000 genomes]
rs8046786	1.00[EUR][1000 genomes]
rs8049046	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051869	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8053040	0.81[AMR][1000 genomes]
rs8053657	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8053883	0.84[AMR][1000 genomes]
rs8054203	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056811	1.00[EUR][1000 genomes]
rs8058735	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8064090	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70485000-70487800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:70485200-70487800	Weak transcription	Esophagus	oesophagus
3	chr16:70485200-70487800	Weak transcription	Right Atrium	heart
4	chr16:70485400-70487800	Weak transcription	Ovary	ovary
5	chr16:70487200-70487800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:70487200-70488000	Flanking Active TSS	Dnd41	blood
7	chr16:70487200-70489400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr16:70487400-70487800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
9	chr16:70487400-70487800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr16:70487400-70487800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:70487400-70487800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr16:70487400-70487800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:70487400-70487800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:70487400-70487800	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr16:70487400-70487800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr16:70487400-70487800	Enhancers	Stomach Mucosa	stomach
17	chr16:70487400-70487800	Flanking Active TSS	GM12878-XiMat	blood
18	chr16:70487400-70487800	Flanking Active TSS	HepG2	liver
19	chr16:70487400-70487800	Flanking Active TSS	HMEC	breast
20	chr16:70487400-70487800	Flanking Active TSS	K562	blood
21	chr16:70487400-70488000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr16:70487400-70488000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr16:70487400-70488000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr16:70487400-70488000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr16:70487400-70488000	Flanking Active TSS	Liver	Liver
26	chr16:70487400-70488000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr16:70487400-70488000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr16:70487400-70488000	Weak transcription	Spleen	Spleen
29	chr16:70487400-70488000	Flanking Active TSS	Hela-S3	cervix
30	chr16:70487400-70488000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr16:70487400-70488200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr16:70487400-70488200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:70487400-70488600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:70487400-70489000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:70487400-70489000	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr16:70487400-70489200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr16:70487400-70489200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr16:70487400-70489200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:70487400-70489200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr16:70487400-70489200	Active TSS	Colonic Mucosa	Colon
41	chr16:70487400-70489200	Active TSS	Rectal Smooth Muscle	rectum
42	chr16:70487400-70489400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr16:70487400-70489400	Active TSS	A549	lung
44	chr16:70487600-70487800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr16:70487600-70487800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:70487600-70487800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:70487600-70487800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:70487600-70487800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr16:70487600-70487800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr16:70487600-70487800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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