Variant report

Variant	rs60853517
Chromosome Location	chr1:45009429-45009430
allele	A/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	CEBPB	chr1:45009223-45009473	A549	lung:	n/a	chr1:45009344-45009357 chr1:45009344-45009357 chr1:45009344-45009355
2	SIN3A	chr1:45008397-45009609	H1-hESC	embryonic stem cell:	n/a	chr1:45008615-45008628 chr1:45008603-45008616 chr1:45008990-45009001
3	BACH1	chr1:45008944-45009845	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr1:45008746-45009562	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr1:45008462-45009437	H1-hESC	embryonic stem cell:	n/a	chr1:45008982-45008991 chr1:45009347-45009356 chr1:45008783-45008793
6	HDAC2	chr1:45008756-45009843	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr1:45008602-45009819	H1-hESC	embryonic stem cell:	n/a	chr1:45008992-45009010
8	MXI1	chr1:45008880-45009809	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:45009202-45009485	IMR90	lung:	n/a	chr1:45009344-45009357 chr1:45009344-45009357 chr1:45009344-45009355
10	TEAD4	chr1:45008863-45009572	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr1:45008916-45009786	H1-hESC	embryonic stem cell:	n/a	chr1:45009344-45009357 chr1:45009344-45009357 chr1:45009344-45009355
12	POLR2A	chr1:45008286-45009476	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr1:45008504-45009460	H1-hESC	embryonic stem cell:	n/a	chr1:45008586-45008595 chr1:45008993-45009007 chr1:45008896-45008908 chr1:45008898-45008907 chr1:45009002-45009011 chr1:45008996-45009007 chr1:45008773-45008787 chr1:45008777-45008791 chr1:45008897-45008911 chr1:45008896-45008908 chr1:45008997-45009006 chr1:45008996-45009008 chr1:45008998-45009012
14	YY1	chr1:45008503-45009487	H1-hESC	embryonic stem cell:	n/a	chr1:45008997-45009008 chr1:45008554-45008565 chr1:45008990-45009001
15	RAD21	chr1:45008019-45009840	H1-hESC	embryonic stem cell:	n/a	chr1:45008952-45008971 chr1:45008993-45009003 chr1:45008697-45008711 chr1:45008234-45008244
16	JUND	chr1:45008375-45009834	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr1:45008230-45009677	H1-hESC	embryonic stem cell:	n/a	chr1:45008996-45009006
18	RAD21	chr1:45008179-45009737	H1-hESC	embryonic stem cell:	n/a	chr1:45008952-45008971 chr1:45008993-45009003 chr1:45008697-45008711 chr1:45008234-45008244
19	CREB1	chr1:45008540-45009476	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr1:45009181-45009490	K562	blood:	n/a	chr1:45009344-45009357 chr1:45009344-45009357 chr1:45009344-45009355
21	CEBPB	chr1:45009183-45009514	HepG2	liver:	n/a	chr1:45009344-45009357 chr1:45009344-45009357 chr1:45009344-45009355
22	CTBP2	chr1:45008341-45010113	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:44999769..45001806-chr1:45008456..45010652,2	K562	blood:

Variant related genes	Relation type
MIR5584	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11803094	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568345	0.93[EUR][1000 genomes]
rs34090807	0.93[EUR][1000 genomes]
rs58875175	0.93[EUR][1000 genomes]
rs61351118	0.93[EUR][1000 genomes]
rs74070513	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44998800-45017800	Weak transcription	Right Atrium	heart
2	chr1:44998800-45022000	Weak transcription	HepG2	liver
3	chr1:45004800-45015200	Enhancers	Brain Substantia Nigra	brain
4	chr1:45005000-45009600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:45005400-45009800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:45007200-45015800	Enhancers	Brain Angular Gyrus	brain
7	chr1:45007600-45009800	Enhancers	Fetal Thymus	thymus
8	chr1:45007600-45010400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:45007600-45011600	Enhancers	Brain Anterior Caudate	brain
10	chr1:45007600-45016600	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:45007600-45016600	Enhancers	Brain Hippocampus Middle	brain
12	chr1:45007800-45009600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:45007800-45009600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr1:45007800-45009800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:45007800-45009800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:45008000-45016400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:45008200-45009800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:45008200-45010000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:45008200-45012800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:45008400-45009800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr1:45008600-45009600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr1:45008600-45010000	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:45008600-45010000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:45008800-45010000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:45008800-45012800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:45009200-45009600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
27	chr1:45009200-45009600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:45009200-45009600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:45009200-45009600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:45009200-45009600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:45009200-45009600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:45009200-45009600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:45009200-45009800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr1:45009200-45009800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
35	chr1:45009200-45010000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:45009200-45012800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:45009400-45009600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:45009400-45009600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:45009400-45009800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr1:45009400-45009800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr1:45009400-45009800	Bivalent Enhancer	Placenta	Placenta
42	chr1:45009400-45010000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:45009400-45010200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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