Variant report

Variant	rs559046396
Chromosome Location	chr8:61821736-61821737
allele	C/T
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	chr8:61821252-61822003	SK-N-MC	brain:	n/a	n/a
2	SPI1	chr8:61821524-61821928	HL-60	blood:	n/a	n/a
3	REST	chr8:61821275-61822015	PFSK-1	brain:	n/a	chr8:61821427-61821437 chr8:61821431-61821444
4	SPI1	chr8:61821538-61821909	GM12891	blood:	n/a	n/a
5	EGR1	chr8:61821415-61821819	K562	blood:	n/a	chr8:61821588-61821602
6	TAL1	chr8:61821644-61821945	K562	blood:	n/a	n/a
7	RELA	chr8:61820909-61822664	GM18505	blood:	n/a	n/a
8	CHD1	chr8:61821666-61822904	GM12878	blood:	n/a	n/a
9	FOXM1	chr8:61821102-61822782	GM12878	blood:	n/a	n/a
10	EP300	chr8:61821548-61822008	K562	blood:	n/a	n/a
11	EP300	chr8:61821483-61821801	SK-N-SH_RA	brain:	n/a	n/a
12	TEAD4	chr8:61821480-61822009	K562	blood:	n/a	n/a
13	RELA	chr8:61821079-61822731	GM12891	blood:	n/a	n/a
14	RELA	chr8:61821146-61822670	GM19099	blood:	n/a	n/a
15	RCOR1	chr8:61821719-61821933	K562	blood:	n/a	n/a
16	POLR2A	chr8:61821229-61823401	GM19099	blood:	n/a	n/a
17	MTA3	chr8:61821108-61823501	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:61821261-61822053	PFSK-1	brain:	n/a	n/a
19	MAX	chr8:61821253-61821749	H1-hESC	embryonic stem cell:	n/a	n/a
20	STAT3	chr8:61821441-61822223	MCF10A-Er-Src	breast:	n/a	chr8:61821865-61821877
21	POLR2A	chr8:61821357-61821926	HL-60	blood:	n/a	n/a
22	MTA3	chr8:61821543-61822758	GM12878	blood:	n/a	n/a
23	MAX	chr8:61821362-61823159	NB4	blood:	n/a	n/a
24	MAX	chr8:61821168-61821800	ECC-1	luminal epithelium:	n/a	n/a
25	CCNT2	chr8:61821735-61821924	K562	blood:	n/a	chr8:61821864-61821873
26	POLR2A	chr8:61821252-61823354	GM18526	blood:	n/a	n/a
27	BHLHE40	chr8:61821494-61821848	K562	blood:	n/a	n/a
28	RELA	chr8:61821232-61822690	GM19193	blood:	n/a	n/a
29	REST	chr8:61821456-61821952	PFSK-1	brain:	n/a	n/a
30	ATF2	chr8:61821261-61822386	GM12878	blood:	n/a	n/a
31	GATA2	chr8:61821476-61822342	HUVEC	blood vessel:	n/a	chr8:61821717-61821726 chr8:61821817-61821824 chr8:61821720-61821729 chr8:61821815-61821824
32	POLR2A	chr8:61821191-61822651	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr8:61821355-61823142	GM12892	blood:	n/a	n/a
34	RELA	chr8:61821442-61822607	GM15510	blood:	n/a	n/a
35	SPI1	chr8:61821423-61822083	HL-60	blood:	n/a	n/a
36	POLR2A	chr8:61820812-61826736	GM12878	blood:	n/a	n/a
37	FOS	chr8:61821697-61821790	MCF10A-Er-Src	breast:	n/a	chr8:61821719-61821727 chr8:61821717-61821728 chr8:61821717-61821729
38	MAX	chr8:61821396-61821832	K562	blood:	n/a	n/a
39	SPI1	chr8:61821540-61821829	GM12878	blood:	n/a	n/a
40	MAX	chr8:61821226-61821766	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3A	chr8:61821231-61821899	H1-hESC	embryonic stem cell:	n/a	chr8:61821431-61821444 chr8:61821431-61821442
42	ELK1	chr8:61821614-61821747	GM12878	blood:	n/a	n/a
43	NR2F2	chr8:61821642-61822469	K562	blood:	n/a	chr8:61821845-61821860
44	STAT3	chr8:61821481-61822210	MCF10A-Er-Src	breast:	n/a	chr8:61821865-61821877
45	BCLAF1	chr8:61821250-61823386	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822860-61822873 chr8:61822627-61822640
46	POLR2A	chr8:61821153-61823143	GM19193	blood:	n/a	n/a
47	NR2F2	chr8:61821507-61822504	K562	blood:	n/a	chr8:61821845-61821860
48	JUND	chr8:61821471-61821911	K562	blood:	n/a	chr8:61821719-61821727 chr8:61821717-61821729
49	STAT3	chr8:61821730-61822241	GM12878	blood:	n/a	chr8:61821865-61821877
50	EP300	chr8:61821535-61821864	SK-N-SH_RA	brain:	n/a	n/a

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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61819000-61822000	Weak transcription	Lung	lung
2	chr8:61819000-61822200	Weak transcription	Gastric	stomach
3	chr8:61820200-61821800	Enhancers	Stomach Mucosa	stomach
4	chr8:61820400-61821800	Enhancers	Fetal Thymus	thymus
5	chr8:61820800-61822000	Flanking Active TSS	GM12878-XiMat	blood
6	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr8:61821000-61821800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:61821000-61821800	Enhancers	Fetal Muscle Leg	muscle
9	chr8:61821000-61822000	Enhancers	Brain Angular Gyrus	brain
10	chr8:61821000-61822000	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:61821000-61822200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr8:61821000-61822200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr8:61821000-61822400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:61821000-61823400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr8:61821000-61823400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr8:61821000-61826400	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr8:61821200-61821800	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:61821200-61821800	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr8:61821200-61821800	Bivalent Enhancer	Fetal Stomach	stomach
26	chr8:61821200-61822000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:61821200-61822000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr8:61821200-61822000	Enhancers	Fetal Lung	lung
29	chr8:61821200-61822000	Weak transcription	Small Intestine	intestine
30	chr8:61821200-61822200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:61821200-61822200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:61821200-61822200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:61821200-61822200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:61821200-61822200	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr8:61821200-61822200	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr8:61821200-61822200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr8:61821200-61822200	Enhancers	HSMMtube	muscle
38	chr8:61821200-61822200	Enhancers	K562	blood
39	chr8:61821200-61822400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr8:61821200-61822400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:61821200-61822400	Enhancers	Dnd41	blood
42	chr8:61821200-61822600	Active TSS	Right Atrium	heart
43	chr8:61821200-61822800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr8:61821200-61823200	Enhancers	Spleen	Spleen
45	chr8:61821200-61823400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr8:61821200-61823400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr8:61821200-61823800	Active TSS	Rectal Smooth Muscle	rectum
48	chr8:61821400-61821800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr8:61821400-61821800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:61821400-61821800	Active TSS	Adipose Nuclei	Adipose

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