Variant report

Variant	rs8055106
Chromosome Location	chr16:75498823-75498824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:620)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:75498621-75498917	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr16:75498550-75499026	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr16:75498143-75498931	K562	blood:	n/a	n/a
4	POLR2A	chr16:75497905-75498889	GM19099	blood:	n/a	n/a
5	SP2	chr16:75498466-75498849	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr16:75498626-75498864	MCF-7	breast:	n/a	n/a
7	CTCF	chr16:75498720-75498870	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr16:75498720-75498870	K562	blood:	n/a	n/a
9	BRCA1	chr16:75498249-75499041	Hela-S3	cervix:	n/a	n/a
10	ZNF143	chr16:75498318-75498992	K562	blood:	n/a	chr16:75498800-75498810
11	KAP1	chr16:75498744-75498990	K562	blood:	n/a	n/a
12	PML	chr16:75498142-75498903	GM12878	blood:	n/a	n/a
13	JUND	chr16:75498145-75498982	H1-hESC	embryonic stem cell:	n/a	chr16:75498350-75498359
14	FOXM1	chr16:75498261-75499091	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:75498037-75498970	HCT-116	colon:	n/a	n/a
16	SP2	chr16:75498397-75498828	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr16:75498340-75498930	A549	lung:	n/a	n/a
18	RAD21	chr16:75498495-75499113	MCF-7	breast:	n/a	n/a
19	MAX	chr16:75498198-75499071	ECC-1	luminal epithelium:	n/a	chr16:75498252-75498261
20	SIN3AK20	chr16:75497506-75499210	MCF-7	breast:	n/a	n/a
21	NFIC	chr16:75498427-75499019	GM12878	blood:	n/a	n/a
22	CEBPB	chr16:75498462-75498952	HepG2	liver:	n/a	n/a
23	CREB1	chr16:75498318-75498898	ECC-1	luminal epithelium:	n/a	n/a
24	TAF7	chr16:75498329-75498946	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr16:75498628-75498955	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr16:75497554-75498953	HUVEC	blood vessel:	n/a	n/a
27	RAD21	chr16:75498447-75499024	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr16:75497844-75498879	GM15510	blood:	n/a	n/a
29	TEAD4	chr16:75498514-75498990	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr16:75498352-75498898	HepG2	liver:	n/a	n/a
31	CTCF	chr16:75498720-75498870	GM12864	blood:	n/a	n/a
32	CHD2	chr16:75498103-75499017	Hela-S3	cervix:	n/a	chr16:75498347-75498357 chr16:75498217-75498227 chr16:75498352-75498362
33	YY1	chr16:75498685-75498880	A549	lung:	n/a	n/a
34	MXI1	chr16:75498080-75498950	GM12878	blood:	n/a	n/a
35	IRF1	chr16:75498304-75498948	K562	blood:	n/a	chr16:75498691-75498705
36	CREB1	chr16:75498088-75498872	A549	lung:	n/a	n/a
37	TFAP2C	chr16:75497549-75498877	Hela-S3	cervix:	n/a	chr16:75497853-75497868
38	CTCFL	chr16:75498601-75498863	K562	blood:	n/a	chr16:75498803-75498812
39	YY1	chr16:75497680-75498916	HepG2	liver:	n/a	chr16:75497721-75497732 chr16:75498315-75498329 chr16:75498269-75498283
40	SETDB1	chr16:75498638-75498954	U2OS	brain:	n/a	n/a
41	CEBPB	chr16:75498558-75498906	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAFK	chr16:75498685-75498891	HepG2	liver:	n/a	n/a
43	CTCF	chr16:75498720-75498870	HA-sp	spinal cord:	n/a	n/a
44	EP300	chr16:75498177-75498923	HepG2	liver:	n/a	chr16:75498554-75498563 chr16:75498667-75498683 chr16:75498551-75498560
45	GTF2F1	chr16:75498502-75498954	Hela-S3	cervix:	n/a	n/a
46	MXI1	chr16:75497444-75499164	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr16:75497233-75498857	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr16:75498499-75498952	GM19238	blood:	n/a	n/a
49	POLR2A	chr16:75497994-75498868	A549	lung:	n/a	n/a
50	CTCF	chr16:75498680-75498830	WI-38	lung:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75497125..75499382-chr16:75564750..75566395,2	MCF-7	breast:
2	chr16:75495533..75500726-chr16:75509549..75515784,9	MCF-7	breast:
3	chr16:75465991..75469604-chr16:75494524..75499996,12	MCF-7	breast:
4	chr16:75497166..75499836-chr16:75598619..75601609,5	MCF-7	breast:
5	chr16:75496396..75498894-chr16:75652662..75656672,3	MCF-7	breast:
6	chr16:75492483..75495341-chr16:75495841..75499470,4	K562	blood:
7	chr16:75497738..75499769-chr16:75549161..75551267,4	MCF-7	breast:
8	chr11:123324770..123325571-chr16:75497876..75498861,2	Hela-S3	cervix:
9	chr16:75495991..75500241-chr16:75679416..75683319,6	MCF-7	breast:
10	chr16:75496858..75499850-chr16:75589381..75591063,2	K562	blood:
11	chr16:75466440..75468341-chr16:75498328..75499164,5	MCF-7	breast:
12	chr16:75496672..75499382-chr16:75549463..75551344,4	MCF-7	breast:
13	chr16:75498113..75498860-chr7:100026909..100027763,2	Hela-S3	cervix:
14	chr16:75467294..75467997-chr16:75498539..75499091,2	MCF-7	breast:
15	chr12:49412091..49412681-chr16:75498282..75498826,2	Hela-S3	cervix:
16	chr16:75464062..75469543-chr16:75495268..75500189,14	MCF-7	breast:
17	chr16:75496764..75498931-chr16:75589140..75591199,3	MCF-7	breast:
18	chr16:75181464..75183944-chr16:75497097..75499788,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM170A	TF binding region
ENSG00000261476	TF binding region
ENSG00000261717	TF binding region
ENSG00000065457	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000261476	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000255414	Chromatin interaction
ENSG00000203472	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000135702	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000184517	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28413092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28502535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28729512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9921639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9930742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9931077	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9931679	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	esv3437619	chr16:75496876-75499424	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
11	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75496000-75499000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr16:75496600-75499000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:75497000-75499000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:75497000-75499000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:75497000-75499000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:75497000-75499000	Active TSS	Stomach Smooth Muscle	stomach
7	chr16:75497000-75499200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:75497200-75499000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:75497200-75499000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr16:75497200-75499000	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr16:75497200-75499000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:75497200-75499000	Active TSS	Brain Hippocampus Middle	brain
13	chr16:75497200-75499000	Active TSS	Right Ventricle	heart
14	chr16:75497200-75499000	Active TSS	A549	lung
15	chr16:75497200-75499200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:75497400-75499000	Active TSS	K562	blood
17	chr16:75497600-75499000	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr16:75497600-75499000	Active TSS	Brain Anterior Caudate	brain
19	chr16:75497600-75499000	Active TSS	Osteobl	bone
20	chr16:75497800-75499000	Active TSS	Primary T cells from cord blood	blood
21	chr16:75497800-75499000	Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr16:75497800-75499000	Active TSS	Adipose Nuclei	Adipose
23	chr16:75497800-75499000	Active TSS	Fetal Brain Male	brain
24	chr16:75497800-75499000	Weak transcription	Fetal Heart	heart
25	chr16:75497800-75499000	Active TSS	Fetal Muscle Leg	muscle
26	chr16:75497800-75499000	Active TSS	Thymus	Thymus
27	chr16:75497800-75499200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:75497800-75499200	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr16:75497800-75499200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr16:75497800-75499400	Active TSS	Fetal Brain Female	brain
31	chr16:75498000-75499000	Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr16:75498600-75499000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:75498600-75499000	Active TSS	Brain Germinal Matrix	brain
34	chr16:75498600-75499000	Enhancers	HUVEC	blood vessel
35	chr16:75498600-75506800	Weak transcription	Brain Substantia Nigra	brain
36	chr16:75498600-75511800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:75498800-75499000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr16:75498800-75499000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr16:75498800-75499000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:75498800-75499000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:75498800-75499000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr16:75498800-75499000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:75498800-75499000	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr16:75498800-75499000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr16:75498800-75499000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr16:75498800-75499000	Flanking Active TSS	Fetal Kidney	kidney
47	chr16:75498800-75499000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr16:75498800-75499000	Flanking Active TSS	GM12878-XiMat	blood
49	chr16:75498800-75499000	Flanking Active TSS	Hela-S3	cervix
50	chr16:75498800-75499200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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