Variant report

Variant	rs546691284
Chromosome Location	chr8:6263200-6263201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr8:6263123-6264244	K562	blood:	n/a	n/a
2	MAZ	chr8:6263169-6263502	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:6263164-6264735	GM12878	blood:	n/a	n/a
4	MXI1	chr8:6263153-6265176	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:6263127-6263679	GM12891	blood:	n/a	n/a
6	POLR2A	chr8:6263139-6263689	HCT-116	colon:	n/a	n/a
7	ELF1	chr8:6262891-6264569	HCT-116	colon:	n/a	n/a
8	POLR2A	chr8:6263091-6264344	HCT-116	colon:	n/a	n/a
9	POLR2A	chr8:6263101-6265055	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr8:6263193-6264393	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr8:6263167-6263557	K562	blood:	n/a	n/a
12	MAZ	chr8:6263139-6264357	K562	blood:	n/a	n/a
13	POLR2A	chr8:6262542-6265893	MCF10A-Er-Src	breast:	n/a	n/a
14	PML	chr8:6263102-6264487	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:6263082-6265114	Hela-S3	cervix:	n/a	n/a
16	ELF1	chr8:6263160-6263458	K562	blood:	n/a	n/a
17	HCFC1	chr8:6263069-6264918	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:6263057-6264317	GM12892	blood:	n/a	n/a
19	POLR2A	chr8:6262909-6265387	GM12891	blood:	n/a	n/a
20	POLR2A	chr8:6262960-6265138	GM12878	blood:	n/a	n/a
21	MXI1	chr8:6263003-6265606	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr8:6262610-6265080	GM12878	blood:	n/a	n/a
23	E2F4	chr8:6263168-6263368	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr8:6263196-6264357	K562	blood:	n/a	n/a
25	POLR2A	chr8:6263032-6265112	GM18505	blood:	n/a	n/a
26	POLR2A	chr8:6263155-6264405	K562	blood:	n/a	n/a
27	POLR2A	chr8:6262966-6265174	GM12892	blood:	n/a	n/a
28	MAZ	chr8:6263178-6263498	Hela-S3	cervix:	n/a	n/a
29	ELF1	chr8:6263085-6264788	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:6263039-6264980	GM18526	blood:	n/a	n/a
31	MAZ	chr8:6262938-6264512	IMR90	lung:	n/a	n/a
32	POLR2A	chr8:6263071-6263515	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:6263112-6264338	PBDE	blood:	n/a	n/a
34	SIN3A	chr8:6263030-6265412	H1-hESC	embryonic stem cell:	n/a	chr8:6263038-6263052
35	POLR2A	chr8:6263137-6265195	K562	blood:	n/a	n/a
36	POLR2A	chr8:6263181-6264368	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr8:6263098-6265080	GM19099	blood:	n/a	n/a
38	RCOR1	chr8:6263101-6264306	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr8:6262912-6265182	HepG2	liver:	n/a	n/a
40	POLR2A	chr8:6263095-6265112	GM12892	blood:	n/a	n/a
41	SIN3A	chr8:6263186-6264317	GM12878	blood:	n/a	n/a
42	POLR2A	chr8:6263117-6264343	GM12878	blood:	n/a	n/a
43	MAX	chr8:6263192-6264713	K562	blood:	n/a	n/a
44	ELF1	chr8:6263104-6263431	K562	blood:	n/a	n/a
45	POLR2A	chr8:6263109-6265090	GM19193	blood:	n/a	n/a
46	GTF2F1	chr8:6263138-6264243	Hela-S3	cervix:	n/a	n/a
47	ZEB1	chr8:6263084-6264412	GM12878	blood:	n/a	n/a
48	SMC3	chr8:6263152-6263485	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr8:6263144-6265305	IMR90	lung:	n/a	n/a
50	HMGN3	chr8:6263151-6264326	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6262974..6265715-chr8:6564962..6567789,4	MCF-7	breast:
2	chr8:6245309..6247015-chr8:6262084..6263587,2	MCF-7	breast:
3	chr8:6262444..6265412-chr8:6565205..6567179,2	K562	blood:
4	chr8:6257664..6260408-chr8:6262144..6263812,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-2	chr8:6262449-6263892	XLOC_006985
2	lnc-ANGPT2-2	chr8:6263118-6263892	ENSG00000246089
3	lnc-ANGPT2-2	chr8:6262927-6264063	ENSG00000246089.3
4	lnc-ANGPT2-2	chr8:6262438-6264096	NONHSAT124771

No data

Variant related genes	Relation type
MCPH1	TF binding region
ENSG00000249898	Chromatin interaction
ENSG00000155189	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1018782	chr8:5984032-6284373	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv949501	chr8:6081704-6303511	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv890041	chr8:6084048-6274963	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1024103	chr8:6124125-6303511	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1026950	chr8:6127991-6303511	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1025734	chr8:6128828-6303511	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
12	nsv1022940	chr8:6128828-6304814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv527005	chr8:6129051-6287170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1028552	chr8:6129221-6303511	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1021800	chr8:6144798-6286635	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1026004	chr8:6144798-6307692	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv539431	chr8:6144798-6307692	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv933107	chr8:6173244-6312807	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv482828	chr8:6182711-6355710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv1018882	chr8:6204857-6289937	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv890055	chr8:6237397-6351252	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv531468	chr8:6248682-6309194	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1033935	chr8:6262180-6275753	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv524404	chr8:6263083-6291485	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6256400-6263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:6258600-6263200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:6260400-6263200	Weak transcription	Pancreas	Pancrea
4	chr8:6262000-6265200	Active TSS	GM12878-XiMat	blood
5	chr8:6262200-6265400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:6262400-6263200	Flanking Active TSS	HMEC	breast
7	chr8:6262400-6263600	Flanking Active TSS	Dnd41	blood
8	chr8:6262600-6263200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:6262600-6263600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:6262600-6265200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:6262800-6263200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:6262800-6263200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr8:6262800-6263200	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:6262800-6263200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr8:6262800-6263200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:6262800-6263200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:6262800-6263200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:6262800-6263200	Active TSS	Right Atrium	heart
19	chr8:6262800-6263200	Enhancers	Stomach Mucosa	stomach
20	chr8:6262800-6263200	Active TSS	Stomach Smooth Muscle	stomach
21	chr8:6262800-6263200	Flanking Active TSS	A549	lung
22	chr8:6262800-6263200	Flanking Active TSS	Hela-S3	cervix
23	chr8:6262800-6263200	Flanking Active TSS	HepG2	liver
24	chr8:6262800-6263200	Flanking Active TSS	K562	blood
25	chr8:6262800-6263200	Flanking Active TSS	NHEK	skin
26	chr8:6262800-6263200	Flanking Active TSS	Osteobl	bone
27	chr8:6262800-6263400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:6262800-6263400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr8:6262800-6263400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr8:6262800-6263400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr8:6262800-6263400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr8:6262800-6263400	Enhancers	Fetal Heart	heart
33	chr8:6262800-6263400	Flanking Active TSS	NHDF-Ad	bronchial
34	chr8:6262800-6263600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr8:6262800-6263600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:6262800-6263600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:6262800-6263800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:6262800-6264600	Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr8:6262800-6264800	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:6262800-6264800	Active TSS	Brain Angular Gyrus	brain
41	chr8:6262800-6264800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr8:6262800-6265000	Active TSS	NHLF	lung
43	chr8:6262800-6265200	Active TSS	Brain Anterior Caudate	brain
44	chr8:6262800-6265200	Active TSS	Fetal Kidney	kidney
45	chr8:6262800-6265400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr8:6262800-6265400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr8:6262800-6265400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:6262800-6265600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:6263000-6263200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:6263000-6263200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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