Variant report

Variant	rs572510541
Chromosome Location	chr8:6263542-6263543
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:116 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr8:6263520-6263760	K562	blood:	n/a	n/a
2	POLR2A	chr8:6263277-6263801	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr8:6263540-6264823	GM12892	blood:	n/a	chr8:6264124-6264138 chr8:6264094-6264108 chr8:6264125-6264139
4	UBTF	chr8:6263123-6264244	K562	blood:	n/a	n/a
5	ZBTB7A	chr8:6263296-6264989	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr8:6263164-6264735	GM12878	blood:	n/a	n/a
7	MXI1	chr8:6263153-6265176	HepG2	liver:	n/a	n/a
8	YY1	chr8:6263438-6264539	HepG2	liver:	n/a	chr8:6264124-6264138 chr8:6264094-6264108 chr8:6264125-6264139
9	POLR2A	chr8:6263278-6265010	NB4	blood:	n/a	n/a
10	POLR2A	chr8:6263127-6263679	GM12891	blood:	n/a	n/a
11	POLR2A	chr8:6263239-6265064	GM10847	blood:	n/a	n/a
12	POLR2A	chr8:6263139-6263689	HCT-116	colon:	n/a	n/a
13	ELF1	chr8:6262891-6264569	HCT-116	colon:	n/a	n/a
14	JUND	chr8:6263320-6264317	K562	blood:	n/a	n/a
15	POLR2A	chr8:6263542-6264695	A549	lung:	n/a	n/a
16	POLR2A	chr8:6263091-6264344	HCT-116	colon:	n/a	n/a
17	POLR2A	chr8:6263101-6265055	Hela-S3	cervix:	n/a	n/a
18	MAFK	chr8:6263322-6263610	HepG2	liver:	n/a	n/a
19	CHD2	chr8:6263193-6264393	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr8:6263167-6263557	K562	blood:	n/a	n/a
21	NFATC1	chr8:6263524-6264233	GM12878	blood:	n/a	n/a
22	MAZ	chr8:6263139-6264357	K562	blood:	n/a	n/a
23	POLR2A	chr8:6262542-6265893	MCF10A-Er-Src	breast:	n/a	n/a
24	PML	chr8:6263102-6264487	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:6263082-6265114	Hela-S3	cervix:	n/a	n/a
26	HCFC1	chr8:6263069-6264918	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr8:6263057-6264317	GM12892	blood:	n/a	n/a
28	POLR2A	chr8:6262909-6265387	GM12891	blood:	n/a	n/a
29	MAFK	chr8:6263290-6263617	HepG2	liver:	n/a	n/a
30	POLR2A	chr8:6262960-6265138	GM12878	blood:	n/a	n/a
31	MAX	chr8:6263233-6265228	NB4	blood:	n/a	chr8:6265043-6265056
32	MXI1	chr8:6263003-6265606	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr8:6262610-6265080	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:6263214-6264794	MCF-7	breast:	n/a	n/a
35	MYC	chr8:6263196-6264357	K562	blood:	n/a	n/a
36	ZBTB7A	chr8:6263264-6264914	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr8:6263032-6265112	GM18505	blood:	n/a	n/a
38	POLR2A	chr8:6263155-6264405	K562	blood:	n/a	n/a
39	POLR2A	chr8:6262966-6265174	GM12892	blood:	n/a	n/a
40	ELF1	chr8:6263085-6264788	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:6263039-6264980	GM18526	blood:	n/a	n/a
42	TBL1XR1	chr8:6263475-6264040	K562	blood:	n/a	n/a
43	MAZ	chr8:6262938-6264512	IMR90	lung:	n/a	n/a
44	POLR2A	chr8:6263112-6264338	PBDE	blood:	n/a	n/a
45	SIN3A	chr8:6263030-6265412	H1-hESC	embryonic stem cell:	n/a	chr8:6263038-6263052
46	MAX	chr8:6263477-6264381	A549	lung:	n/a	n/a
47	POLR2A	chr8:6263137-6265195	K562	blood:	n/a	n/a
48	POLR2A	chr8:6263181-6264368	PFSK-1	brain:	n/a	n/a
49	POLR2A	chr8:6263098-6265080	GM19099	blood:	n/a	n/a
50	RCOR1	chr8:6263101-6264306	Hela-S3	cervix:	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:6 , 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	chr8:6263227-6264069	XLOC_006985
3	lnc-ANGPT2-2	chr8:6263118-6263892	ENSG00000246089
4	lnc-ANGPT2-2	chr8:6263227-6264069	NR_040040
5	lnc-ANGPT2-2	chr8:6262927-6264063	ENSG00000246089.3
6	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6262000-6265200	Active TSS	GM12878-XiMat	blood
2	chr8:6262200-6265400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:6262400-6263600	Flanking Active TSS	Dnd41	blood
4	chr8:6262600-6263600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:6262600-6265200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:6262800-6263600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr8:6262800-6263600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:6262800-6263600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:6262800-6263800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:6262800-6264600	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr8:6262800-6264800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:6262800-6264800	Active TSS	Brain Angular Gyrus	brain
13	chr8:6262800-6264800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr8:6262800-6265000	Active TSS	NHLF	lung
15	chr8:6262800-6265200	Active TSS	Brain Anterior Caudate	brain
16	chr8:6262800-6265200	Active TSS	Fetal Kidney	kidney
17	chr8:6262800-6265400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr8:6262800-6265400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:6262800-6265400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:6262800-6265600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:6263000-6263600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr8:6263000-6263600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:6263000-6263600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr8:6263000-6263600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr8:6263000-6263600	Flanking Active TSS	Liver	Liver
26	chr8:6263000-6263600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr8:6263000-6263600	Flanking Active TSS	Fetal Brain Male	brain
28	chr8:6263000-6263600	Flanking Active TSS	Placenta	Placenta
29	chr8:6263000-6263600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr8:6263000-6263600	Flanking Active TSS	Thymus	Thymus
31	chr8:6263000-6263600	Flanking Active TSS	HUVEC	blood vessel
32	chr8:6263000-6263800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr8:6263000-6263800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr8:6263000-6263800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:6263000-6264000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr8:6263000-6264600	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr8:6263000-6264600	Active TSS	Aorta	Aorta
38	chr8:6263000-6264800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:6263000-6264800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr8:6263000-6264800	Active TSS	HSMMtube	muscle
41	chr8:6263000-6265000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr8:6263000-6265000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:6263000-6265000	Active TSS	Colonic Mucosa	Colon
44	chr8:6263000-6265000	Active TSS	Fetal Brain Female	brain
45	chr8:6263000-6265000	Active TSS	Fetal Intestine Large	intestine
46	chr8:6263000-6265200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr8:6263000-6265200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr8:6263000-6265200	Active TSS	Right Ventricle	heart
49	chr8:6263000-6265400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr8:6263000-6265400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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