Variant report

Variant	rs62287361
Chromosome Location	chr4:8441775-8441776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr4:8440970-8443464	K562	blood:	n/a	chr4:8442293-8442304 chr4:8442412-8442426
2	MXI1	chr4:8440826-8443653	IMR90	lung:	n/a	n/a
3	MYC	chr4:8441673-8443292	NB4	blood:	n/a	n/a
4	POLR2A	chr4:8441767-8442937	PFSK-1	brain:	n/a	n/a
5	MAX	chr4:8441561-8442699	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr4:8441580-8442713	Hela-S3	cervix:	n/a	n/a
7	TAL1	chr4:8441567-8442666	K562	blood:	n/a	n/a
8	POLR2A	chr4:8441701-8442721	GM12892	blood:	n/a	n/a
9	MAX	chr4:8441729-8441981	HepG2	liver:	n/a	n/a
10	MYC	chr4:8441580-8442686	K562	blood:	n/a	n/a
11	POLR2A	chr4:8440524-8443902	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr4:8441617-8442485	K562	blood:	n/a	n/a
13	MYC	chr4:8441369-8442765	K562	blood:	n/a	n/a
14	CEBPB	chr4:8441710-8442607	K562	blood:	n/a	n/a
15	TBP	chr4:8441681-8442673	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr4:8441744-8442758	K562	blood:	n/a	n/a
17	CBX3	chr4:8441722-8442160	K562	blood:	n/a	n/a
18	POLR2A	chr4:8441725-8443474	PBDE	blood:	n/a	n/a
19	HEY1	chr4:8441732-8442676	K562	blood:	n/a	chr4:8442472-8442481
20	POLR2A	chr4:8441687-8442988	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr4:8440829-8442644	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr4:8441064-8442724	MCF10A-Er-Src	breast:	n/a	n/a
23	NFIC	chr4:8441769-8442767	GM12878	blood:	n/a	n/a
24	MAX	chr4:8441624-8442779	K562	blood:	n/a	n/a
25	SETDB1	chr4:8441672-8442452	U2OS	brain:	n/a	n/a
26	KAP1	chr4:8441308-8442606	K562	blood:	n/a	n/a
27	POLR2A	chr4:8441628-8442844	GM12892	blood:	n/a	n/a
28	BHLHE40	chr4:8441739-8442659	GM12878	blood:	n/a	n/a
29	BHLHE40	chr4:8441678-8442716	HepG2	liver:	n/a	n/a
30	CEBPB	chr4:8441659-8442634	IMR90	lung:	n/a	n/a
31	ZNF384	chr4:8441621-8442660	K562	blood:	n/a	n/a
32	POU2F2	chr4:8441679-8442750	GM12878	blood:	n/a	n/a
33	SETDB1	chr4:8440922-8442549	K562	blood:	n/a	n/a
34	MYBL2	chr4:8441674-8442623	HepG2	liver:	n/a	n/a
35	MXI1	chr4:8441614-8442743	K562	blood:	n/a	n/a
36	POLR2A	chr4:8441709-8442721	GM12892	blood:	n/a	n/a
37	MYC	chr4:8441634-8443137	K562	blood:	n/a	n/a
38	MXI1	chr4:8441003-8443406	SK-N-SH	brain:	n/a	n/a
39	CEBPB	chr4:8441739-8442293	A549	lung:	n/a	n/a
40	USF1	chr4:8441694-8442171	K562	blood:	n/a	n/a
41	BHLHE40	chr4:8441726-8442651	K562	blood:	n/a	n/a
42	POLR2A	chr4:8441742-8442845	GM12878	blood:	n/a	n/a
43	TEAD4	chr4:8441695-8442694	K562	blood:	n/a	n/a
44	FOS	chr4:8441774-8442587	MCF10A-Er-Src	breast:	n/a	chr4:8442293-8442304 chr4:8442412-8442426
45	POLR2A	chr4:8440912-8442800	IMR90	lung:	n/a	n/a
46	ZNF274	chr4:8441705-8442733	K562	blood:	n/a	n/a
47	MAX	chr4:8441493-8441914	K562	blood:	n/a	n/a
48	RCOR1	chr4:8441709-8442840	IMR90	lung:	n/a	n/a
49	CEBPB	chr4:8441679-8442667	Hela-S3	cervix:	n/a	n/a
50	TRIM28	chr4:8441672-8442680	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8428810..8430394-chr4:8440724..8444143,3	K562	blood:
2	chr4:8439123..8440667-chr4:8441503..8443912,2	K562	blood:
3	chr4:8430205..8432229-chr4:8440824..8442595,2	MCF-7	breast:
4	chr4:8439008..8440667-chr4:8441503..8443852,2	K562	blood:
5	chr4:8428067..8433323-chr4:8440948..8445760,8	K562	blood:

No data

Variant related genes	Relation type
TRMT44	TF binding region
ENSG00000087008	Chromatin interaction
ENSG00000155275	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1060617	0.84[EUR][1000 genomes]
rs1106591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13434465	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16842352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17194220	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17201848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17202499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17203215	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17203243	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17806817	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17806883	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17807929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17807994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28507650	0.84[EUR][1000 genomes]
rs28664136	0.84[EUR][1000 genomes]
rs61739067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286002	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286003	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286005	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286035	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286036	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286037	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286038	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286040	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286041	0.84[EUR][1000 genomes]
rs62286042	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286043	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286044	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287391	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62287392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287394	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287406	0.90[EUR][1000 genomes]
rs62287433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287435	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287436	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287439	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287440	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287441	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7686109	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs940132	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription 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	9 gene(s)	inside rSNPs	diseases
6	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription 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	9 gene(s)	inside rSNPs	diseases
7	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8430800-8441800	Weak transcription	Aorta	Aorta
2	chr4:8433800-8442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:8438000-8441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:8438200-8441800	Weak transcription	Gastric	stomach
5	chr4:8438200-8442000	Weak transcription	Spleen	Spleen
6	chr4:8438400-8442000	Weak transcription	Small Intestine	intestine
7	chr4:8439000-8441800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:8439600-8441800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:8439600-8441800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:8439600-8441800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:8439600-8441800	Weak transcription	Esophagus	oesophagus
12	chr4:8439600-8441800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:8439600-8441800	Weak transcription	Left Ventricle	heart
14	chr4:8439600-8441800	Weak transcription	Lung	lung
15	chr4:8439600-8441800	Weak transcription	Pancreas	Pancrea
16	chr4:8439600-8442000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:8439600-8442000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:8439600-8442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8439600-8443800	Active TSS	K562	blood
20	chr4:8439800-8441800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:8439800-8441800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:8439800-8441800	Weak transcription	Right Ventricle	heart
23	chr4:8440400-8441800	Enhancers	Placenta	Placenta
24	chr4:8440400-8441800	Flanking Active TSS	HUVEC	blood vessel
25	chr4:8440600-8441800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:8440600-8441800	Enhancers	Fetal Muscle Leg	muscle
27	chr4:8440800-8441800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:8440800-8441800	Flanking Active TSS	Dnd41	blood
29	chr4:8440800-8443400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:8440800-8443400	Active TSS	Ovary	ovary
31	chr4:8441000-8441800	Enhancers	Primary B cells from peripheral blood	blood
32	chr4:8441000-8441800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr4:8441000-8441800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:8441000-8441800	Enhancers	Fetal Stomach	stomach
35	chr4:8441000-8442200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr4:8441200-8441800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:8441200-8441800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:8441200-8441800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr4:8441200-8441800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr4:8441200-8441800	Enhancers	Brain Germinal Matrix	brain
41	chr4:8441200-8441800	Flanking Active TSS	A549	lung
42	chr4:8441200-8441800	Flanking Active TSS	Osteobl	bone
43	chr4:8441200-8442000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr4:8441200-8442000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr4:8441200-8442000	Flanking Active TSS	Liver	Liver
46	chr4:8441200-8442000	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr4:8441200-8442200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr4:8441200-8442200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:8441200-8442200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:8441200-8442800	Active TSS	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links