Variant report

Variant	rs546280630
Chromosome Location	chr10:92617855-92617856
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:92617740-92617890	HA-sp	spinal cord:	n/a	n/a
2	HMGN3	chr10:92617364-92618091	K562	blood:	n/a	n/a
3	CTCF	chr10:92617155-92618170	SK-N-SH	brain:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
4	SIN3A	chr10:92615640-92618428	H1-hESC	embryonic stem cell:	n/a	chr10:92617442-92617455 chr10:92617619-92617630
5	RCOR1	chr10:92617385-92618088	K562	blood:	n/a	n/a
6	E2F4	chr10:92617636-92618103	MCF10A-Er-Src	breast:	n/a	chr10:92617951-92617960 chr10:92617767-92617777
7	CTCF	chr10:92617337-92618006	K562	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
8	TCF7L2	chr10:92616689-92618109	HCT-116	colon:	n/a	n/a
9	RAD21	chr10:92617193-92618133	H1-hESC	embryonic stem cell:	n/a	chr10:92617707-92617720
10	EGR1	chr10:92617836-92618054	K562	blood:	n/a	chr10:92617968-92617978 chr10:92617964-92617979 chr10:92617965-92617978 chr10:92617965-92617978
11	CTBP2	chr10:92616709-92618174	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr10:92617822-92618053	HCT-116	colon:	n/a	n/a
13	CTCF	chr10:92617204-92618328	A549	lung:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
14	CTCF	chr10:92617760-92617910	AoAF	blood vessel:	n/a	n/a
15	POLR2A	chr10:92617813-92618150	HCT-116	colon:	n/a	n/a
16	CCNT2	chr10:92617232-92618061	K562	blood:	n/a	chr10:92617798-92617807
17	E2F6	chr10:92616950-92618074	K562	blood:	n/a	chr10:92617515-92617524 chr10:92617951-92617960 chr10:92617767-92617777 chr10:92617558-92617568
18	UBTF	chr10:92617342-92618044	K562	blood:	n/a	n/a
19	CTCF	chr10:92617355-92617892	GM12878	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
20	MAX	chr10:92617840-92618099	K562	blood:	n/a	n/a
21	HA-E2F1	chr10:92617853-92618376	MCF-7	breast:	n/a	chr10:92617951-92617960
22	MAZ	chr10:92617366-92618001	K562	blood:	n/a	chr10:92617598-92617608
23	CTCF	chr10:92617315-92617997	IMR90	lung:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
24	UBTF	chr10:92617322-92618071	K562	blood:	n/a	n/a
25	EP300	chr10:92617466-92618260	ECC-1	luminal epithelium:	n/a	chr10:92617742-92617758 chr10:92617970-92617979
26	CHD2	chr10:92617832-92617972	K562	blood:	n/a	n/a
27	MAX	chr10:92617162-92618190	A549	lung:	n/a	chr10:92617598-92617608
28	E2F6	chr10:92617830-92618036	K562	blood:	n/a	chr10:92617951-92617960
29	MYC	chr10:92617848-92618164	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr10:92617387-92618605	MCF10A-Er-Src	breast:	n/a	n/a
31	ZBTB7A	chr10:92617395-92618337	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr10:92617432-92618184	MCF10A-Er-Src	breast:	n/a	n/a
33	MXI1	chr10:92617463-92618052	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:92617446..92619942-chr10:92629114..92632072,2	K562	blood:

Variant related genes	Relation type
HTR7	TF binding region
ENSG00000148688	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831945	chr10:92590576-92793582	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv20899	chr10:92617266-92618168	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv551910	chr10:92617295-92618030	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
4	nsv551911	chr10:92617295-92618082	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv1815232	chr10:92617295-92618616	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1823335	chr10:92617295-92618616	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1840527	chr10:92617295-92618616	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv551912	chr10:92617465-92618082	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92614400-92618600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:92614400-92618800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr10:92614400-92619000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:92614800-92618600	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr10:92614800-92619200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr10:92615000-92618200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr10:92615200-92618200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:92615400-92618600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:92615800-92618000	Active TSS	Osteobl	bone
10	chr10:92615800-92618400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr10:92616000-92618000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:92616000-92618000	Active TSS	Muscle Satellite Cultured Cells	--
13	chr10:92616000-92618000	Active TSS	HMEC	breast
14	chr10:92616000-92618600	Bivalent/Poised TSS	Fetal Stomach	stomach
15	chr10:92616200-92618400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:92616600-92618400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:92616600-92618600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
18	chr10:92616800-92618000	Active TSS	NHEK	skin
19	chr10:92616800-92618400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr10:92616800-92618400	Active TSS	Aorta	Aorta
21	chr10:92616800-92618800	Active TSS	NHLF	lung
22	chr10:92617000-92618200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:92617000-92618200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr10:92617000-92618200	Flanking Bivalent TSS/Enh	Dnd41	blood
25	chr10:92617000-92618200	Active TSS	Hela-S3	cervix
26	chr10:92617000-92618200	Bivalent/Poised TSS	HepG2	liver
27	chr10:92617000-92618400	Active TSS	Brain Cingulate Gyrus	brain
28	chr10:92617000-92618400	Active TSS	Psoas Muscle	Psoas
29	chr10:92617000-92618400	Active TSS	HSMMtube	muscle
30	chr10:92617000-92618600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr10:92617000-92618600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:92617200-92618000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:92617200-92618000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:92617200-92618000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr10:92617200-92618000	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr10:92617200-92618000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:92617200-92618000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr10:92617200-92618000	Bivalent/Poised TSS	Fetal Thymus	thymus
39	chr10:92617200-92618000	Active TSS	Small Intestine	intestine
40	chr10:92617200-92618000	Active TSS	GM12878-XiMat	blood
41	chr10:92617200-92618000	Active TSS	HSMM	muscle
42	chr10:92617200-92618200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:92617200-92618200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:92617200-92618200	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr10:92617200-92618200	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr10:92617200-92618200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr10:92617200-92618200	Active TSS	Colon Smooth Muscle	Colon
48	chr10:92617200-92618200	Active TSS	Esophagus	oesophagus
49	chr10:92617200-92618200	Active TSS	Gastric	stomach
50	chr10:92617200-92618200	Active TSS	Sigmoid Colon	Sigmoid Colon

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