Variant report

Variant	rs546788918
Chromosome Location	chr8:61822154-61822155
allele	C/G
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	POLR2A	chr8:61821990-61822562	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:61821780-61823258	GM12892	blood:	n/a	n/a
3	MEF2A	chr8:61821901-61822730	GM12878	blood:	n/a	n/a
4	CEBPB	chr8:61822138-61822372	K562	blood:	n/a	n/a
5	BCL11A	chr8:61821961-61822740	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822627-61822640
6	EBF1	chr8:61822039-61822294	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:61821768-61823231	GM12892	blood:	n/a	n/a
8	POU2F2	chr8:61821828-61822774	GM12878	blood:	n/a	chr8:61822386-61822398
9	CUX1	chr8:61821988-61822280	GM12878	blood:	n/a	n/a
10	RELA	chr8:61820909-61822664	GM18505	blood:	n/a	n/a
11	CHD1	chr8:61821666-61822904	GM12878	blood:	n/a	n/a
12	FOXM1	chr8:61821102-61822782	GM12878	blood:	n/a	n/a
13	RELA	chr8:61821870-61822402	GM12878	blood:	n/a	n/a
14	BHLHE40	chr8:61821969-61823247	GM12878	blood:	n/a	chr8:61822963-61822979
15	POU2F2	chr8:61821886-61822731	GM12891	blood:	n/a	chr8:61822386-61822398
16	RELA	chr8:61821079-61822731	GM12891	blood:	n/a	n/a
17	RELA	chr8:61821146-61822670	GM19099	blood:	n/a	n/a
18	SIN3A	chr8:61822136-61823163	H1-hESC	embryonic stem cell:	n/a	chr8:61823138-61823151
19	SP1	chr8:61821858-61822777	GM12878	blood:	n/a	chr8:61822560-61822572 chr8:61822562-61822571
20	POLR2A	chr8:61821229-61823401	GM19099	blood:	n/a	n/a
21	TCF3	chr8:61822139-61823086	GM12878	blood:	n/a	n/a
22	MTA3	chr8:61821108-61823501	GM12878	blood:	n/a	n/a
23	PAX5	chr8:61821913-61822740	GM12878	blood:	n/a	chr8:61822440-61822449
24	POLR2A	chr8:61821884-61822767	GM12892	blood:	n/a	n/a
25	STAT3	chr8:61821441-61822223	MCF10A-Er-Src	breast:	n/a	chr8:61821865-61821877
26	MAX	chr8:61821969-61823362	GM12878	blood:	n/a	n/a
27	MTA3	chr8:61821543-61822758	GM12878	blood:	n/a	n/a
28	MEF2C	chr8:61821902-61822753	GM12878	blood:	n/a	n/a
29	EBF1	chr8:61821924-61823004	GM12878	blood:	n/a	n/a
30	MAX	chr8:61821362-61823159	NB4	blood:	n/a	n/a
31	TAF1	chr8:61821867-61822739	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:61821252-61823354	GM18526	blood:	n/a	n/a
33	YY1	chr8:61822002-61822739	GM12878	blood:	n/a	chr8:61822648-61822659 chr8:61822441-61822450 chr8:61822389-61822398 chr8:61822627-61822641 chr8:61822642-61822656 chr8:61822458-61822469
34	NFYB	chr8:61822032-61822303	GM12878	blood:	n/a	n/a
35	PAX5	chr8:61822000-61822754	GM12878	blood:	n/a	chr8:61822440-61822449
36	RELA	chr8:61821232-61822690	GM19193	blood:	n/a	n/a
37	ATF2	chr8:61821261-61822386	GM12878	blood:	n/a	n/a
38	GATA2	chr8:61821476-61822342	HUVEC	blood vessel:	n/a	chr8:61821717-61821726 chr8:61821817-61821824 chr8:61821720-61821729 chr8:61821815-61821824
39	POLR2A	chr8:61821191-61822651	HUVEC	blood vessel:	n/a	n/a
40	STAT1	chr8:61822034-61822464	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:61821355-61823142	GM12892	blood:	n/a	n/a
42	RELA	chr8:61821442-61822607	GM15510	blood:	n/a	n/a
43	POLR2A	chr8:61820812-61826736	GM12878	blood:	n/a	n/a
44	MYC	chr8:61822139-61822266	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr8:61821869-61822783	GM12878	blood:	n/a	chr8:61821891-61821903
46	CEBPB	chr8:61822146-61822346	H1-hESC	embryonic stem cell:	n/a	n/a
47	PAX5	chr8:61821866-61822858	GM12878	blood:	n/a	chr8:61822440-61822449
48	POLR2A	chr8:61822032-61822679	HUVEC	blood vessel:	n/a	n/a
49	CEBPB	chr8:61822154-61822354	K562	blood:	n/a	n/a
50	NR2F2	chr8:61821642-61822469	K562	blood:	n/a	chr8:61821845-61821860

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPH-6	chr8:61822077-61822321	XLOC_007096

Variant related genes	Relation type
ENSG00000254777	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv3327831	chr8:61821423-61824171	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61819000-61822200	Weak transcription	Gastric	stomach
2	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr8:61821000-61822200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
4	chr8:61821000-61822200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr8:61821000-61822400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:61821000-61823400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr8:61821000-61823400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:61821000-61826400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr8:61821200-61822200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:61821200-61822200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:61821200-61822200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr8:61821200-61822200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:61821200-61822200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr8:61821200-61822200	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr8:61821200-61822200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr8:61821200-61822200	Enhancers	HSMMtube	muscle
23	chr8:61821200-61822200	Enhancers	K562	blood
24	chr8:61821200-61822400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr8:61821200-61822400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr8:61821200-61822400	Enhancers	Dnd41	blood
27	chr8:61821200-61822600	Active TSS	Right Atrium	heart
28	chr8:61821200-61822800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr8:61821200-61823200	Enhancers	Spleen	Spleen
30	chr8:61821200-61823400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr8:61821200-61823400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr8:61821200-61823800	Active TSS	Rectal Smooth Muscle	rectum
33	chr8:61821400-61822200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:61821400-61822200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr8:61821400-61822200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:61821400-61822200	Active TSS	Colonic Mucosa	Colon
37	chr8:61821400-61822400	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr8:61821400-61822400	Enhancers	Fetal Heart	heart
39	chr8:61821400-61822400	Enhancers	HepG2	liver
40	chr8:61821400-61823200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr8:61821400-61823200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr8:61821400-61823200	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr8:61821400-61823400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:61821400-61823400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr8:61821400-61823400	Active TSS	Fetal Brain Female	brain
46	chr8:61821400-61823400	Flanking Active TSS	HUVEC	blood vessel
47	chr8:61821400-61826400	Enhancers	Placenta	Placenta
48	chr8:61821600-61822200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:61821600-61822200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:61821600-61822200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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