Variant report

Variant	rs540994220
Chromosome Location	chr3:133970752-133970753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr3:133970591-133971352	U2OS	brain:	n/a	chr3:133971281-133971289
2	MAX	chr3:133970628-133971028	HepG2	liver:	n/a	n/a
3	JUND	chr3:133970620-133970860	K562	blood:	n/a	n/a
4	POLR2A	chr3:133970554-133970874	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:133970621-133971116	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr3:133970564-133970778	HepG2	liver:	n/a	n/a
7	TBP	chr3:133970628-133970807	HepG2	liver:	n/a	n/a
8	MAX	chr3:133970614-133971040	K562	blood:	n/a	n/a
9	EP300	chr3:133970610-133970836	K562	blood:	n/a	chr3:133970815-133970822
10	CEBPB	chr3:133970524-133970877	K562	blood:	n/a	n/a
11	JUN	chr3:133970667-133970781	HepG2	liver:	n/a	chr3:133970713-133970726
12	CEBPB	chr3:133970531-133971120	HepG2	liver:	n/a	n/a
13	MAX	chr3:133970483-133971243	HepG2	liver:	n/a	n/a
14	MYC	chr3:133970574-133970841	K562	blood:	n/a	n/a
15	HCFC1	chr3:133970602-133970763	K562	blood:	n/a	n/a
16	CEBPB	chr3:133970534-133970850	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr3:133970585-133970828	A549	lung:	n/a	n/a
18	CEBPB	chr3:133970544-133970756	K562	blood:	n/a	n/a
19	ELF1	chr3:133970568-133971007	HepG2	liver:	n/a	chr3:133970814-133970825 chr3:133970815-133970824

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133969851..133972992-chr3:133976680..133979913,3	K562	blood:
2	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
3	chr3:133970647..133972912-chr3:133975711..133978069,2	MCF-7	breast:
4	chr3:133969328..133972317-chr3:134030794..134032589,3	MCF-7	breast:
5	chr3:133970115..133972265-chr3:133986843..133989271,2	MCF-7	breast:
6	chr3:133969854..133971498-chr3:134203715..134206373,2	K562	blood:
7	chr3:133969506..133971460-chr3:134202147..134204798,2	K562	blood:

No data

Variant related genes	Relation type
RYK	TF binding region
ENSG00000240006	Chromatin interaction
ENSG00000214289	Chromatin interaction
ENSG00000260633	Chromatin interaction
ENSG00000182923	Chromatin interaction
ENSG00000129055	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1799165	chr3:133959746-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803106	chr3:133959746-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	esv3406249	chr3:133968537-133970760	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	esv1792549	chr3:133969361-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
14	esv1798144	chr3:133969361-133973731	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	esv1838610	chr3:133969361-133973731	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
16	esv1842254	chr3:133969361-133973731	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133968000-133970800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr3:133968200-133970800	Active TSS	Right Ventricle	heart
3	chr3:133968400-133970800	Active TSS	NH-A	brain
4	chr3:133970000-133970800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:133970000-133972400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:133970200-133970800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:133970200-133970800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:133970200-133970800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:133970200-133970800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:133970200-133970800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:133970200-133970800	Enhancers	Primary B cells from peripheral blood	blood
12	chr3:133970200-133970800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:133970200-133970800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:133970200-133970800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:133970200-133970800	Weak transcription	Lung	lung
16	chr3:133970200-133970800	Enhancers	Right Atrium	heart
17	chr3:133970200-133971000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:133970200-133971000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr3:133970200-133971000	Weak transcription	Liver	Liver
20	chr3:133970200-133971000	Enhancers	Spleen	Spleen
21	chr3:133970200-133971000	Enhancers	Dnd41	blood
22	chr3:133970200-133971200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:133970200-133971200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:133970200-133971200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:133970200-133971400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:133970200-133971400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:133970200-133971400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:133970200-133971400	Enhancers	NHDF-Ad	bronchial
29	chr3:133970200-133971400	Enhancers	NHEK	skin
30	chr3:133970200-133971400	Enhancers	NHLF	lung
31	chr3:133970200-133971400	Enhancers	Osteobl	bone
32	chr3:133970200-133971600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:133970200-133971600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:133970200-133971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:133970200-133971600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr3:133970200-133971600	Weak transcription	GM12878-XiMat	blood
37	chr3:133970200-133971800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:133970200-133971800	Enhancers	Aorta	Aorta
39	chr3:133970200-133972000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr3:133970200-133972000	Enhancers	Fetal Muscle Trunk	muscle
41	chr3:133970200-133972200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:133970200-133972200	Enhancers	Placenta	Placenta
43	chr3:133970200-133972400	Enhancers	Fetal Muscle Leg	muscle
44	chr3:133970200-133972400	Enhancers	Fetal Stomach	stomach
45	chr3:133970200-133972600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr3:133970200-133972800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr3:133970200-133972800	Weak transcription	HMEC	breast
48	chr3:133970200-133973200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:133970200-133977000	Weak transcription	Colonic Mucosa	Colon
50	chr3:133970200-133977600	Weak transcription	Rectal Smooth Muscle	rectum

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