Variant report

Variant	rs530573843
Chromosome Location	chr4:53727677-53727678
allele	A/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	E2F6	chr4:53727459-53729023	H1-hESC	embryonic stem cell:	n/a	chr4:53728200-53728210 chr4:53728643-53728654 chr4:53728435-53728444 chr4:53728439-53728449
2	MAX	chr4:53727666-53727991	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr4:53727606-53729106	ECC-1	luminal epithelium:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
4	RAD21	chr4:53727676-53728947	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr4:53727599-53729010	H1-hESC	embryonic stem cell:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
6	SIN3A	chr4:53726721-53729851	H1-hESC	embryonic stem cell:	n/a	n/a
7	SETDB1	chr4:53727670-53727961	U2OS	brain:	n/a	n/a
8	MXI1	chr4:53726951-53732052	SK-N-SH	brain:	n/a	n/a
9	MAX	chr4:53727604-53729043	ECC-1	luminal epithelium:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
10	MXI1	chr4:53727567-53729029	IMR90	lung:	n/a	n/a
11	CTBP2	chr4:53727338-53729596	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr4:53727627-53729027	K562	blood:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
13	MAZ	chr4:53727655-53728836	IMR90	lung:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
14	MAX	chr4:53727662-53728900	H1-hESC	embryonic stem cell:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
15	REST	chr4:53727581-53729044	H1-neurons	neurons:	n/a	chr4:53728200-53728213 chr4:53728894-53728907 chr4:53728081-53728091 chr4:53728200-53728213
16	RAD21	chr4:53727407-53729218	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:53727667-53728733	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:53525430..53527688-chr4:53726700..53729187,4	MCF-7	breast:
2	chr4:53586938..53589965-chr4:53727574..53731676,3	MCF-7	breast:
3	chr4:53723992..53727784-chr4:53728716..53731112,4	K562	blood:
4	chr4:53577401..53580169-chr4:53726393..53730142,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCFD2-2	chr4:53727309-53727898	NONHSAT096385

Variant related genes	Relation type
RASL11B	TF binding region
ENSG00000212588	Chromatin interaction
ENSG00000109189	Chromatin interaction
ENSG00000226950	Chromatin interaction
ENSG00000248866	Chromatin interaction
ENSG00000264585	Chromatin interaction
ENSG00000128045	Chromatin interaction
ENSG00000248375	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1004086	chr4:53698581-53773183	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3360858	chr4:53727420-53729968	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53720600-53727800	Weak transcription	Aorta	Aorta
2	chr4:53720600-53728000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:53726000-53727800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:53726800-53728000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:53726800-53728000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:53727200-53727800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:53727200-53727800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr4:53727200-53728000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr4:53727200-53728000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr4:53727200-53728200	Flanking Active TSS	Fetal Heart	heart
11	chr4:53727400-53727800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:53727400-53727800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:53727400-53727800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:53727400-53727800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:53727400-53727800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr4:53727400-53727800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
17	chr4:53727400-53727800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:53727400-53727800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:53727400-53727800	Bivalent Enhancer	Fetal Stomach	stomach
20	chr4:53727400-53727800	Bivalent Enhancer	Fetal Thymus	thymus
21	chr4:53727400-53727800	Enhancers	Gastric	stomach
22	chr4:53727400-53727800	Bivalent Enhancer	GM12878-XiMat	blood
23	chr4:53727400-53728000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:53727400-53728000	Enhancers	Spleen	Spleen
25	chr4:53727400-53728200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:53727400-53729600	Active TSS	Brain Angular Gyrus	brain
27	chr4:53727400-53729600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr4:53727600-53727800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:53727600-53727800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:53727600-53727800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:53727600-53727800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:53727600-53727800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr4:53727600-53727800	Bivalent Enhancer	Primary B cells from cord blood	blood
34	chr4:53727600-53727800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr4:53727600-53727800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr4:53727600-53727800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr4:53727600-53727800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr4:53727600-53727800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
39	chr4:53727600-53727800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr4:53727600-53727800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:53727600-53727800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr4:53727600-53727800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:53727600-53727800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:53727600-53727800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:53727600-53727800	Bivalent Enhancer	Adipose Nuclei	Adipose
46	chr4:53727600-53727800	Bivalent Enhancer	Liver	Liver
47	chr4:53727600-53727800	Enhancers	Colon Smooth Muscle	Colon
48	chr4:53727600-53727800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr4:53727600-53727800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr4:53727600-53727800	Bivalent Enhancer	Fetal Intestine Large	intestine

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