Variant report

Variant	rs139269849
Chromosome Location	chr3:133970803-133970804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 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	TBP	chr3:133970628-133970807	HepG2	liver:	n/a	n/a
7	MAX	chr3:133970614-133971040	K562	blood:	n/a	n/a
8	EP300	chr3:133970610-133970836	K562	blood:	n/a	chr3:133970815-133970822
9	CEBPB	chr3:133970524-133970877	K562	blood:	n/a	n/a
10	CEBPB	chr3:133970531-133971120	HepG2	liver:	n/a	n/a
11	MAX	chr3:133970483-133971243	HepG2	liver:	n/a	n/a
12	MYC	chr3:133970574-133970841	K562	blood:	n/a	n/a
13	CEBPB	chr3:133970534-133970850	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr3:133970585-133970828	A549	lung:	n/a	n/a
15	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
ENSG00000182923	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000214289	Chromatin interaction
ENSG00000260633	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
13	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
14	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
15	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133970000-133972400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:133970200-133971000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:133970200-133971000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr3:133970200-133971000	Weak transcription	Liver	Liver
5	chr3:133970200-133971000	Enhancers	Spleen	Spleen
6	chr3:133970200-133971000	Enhancers	Dnd41	blood
7	chr3:133970200-133971200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:133970200-133971200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:133970200-133971200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:133970200-133971400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:133970200-133971400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:133970200-133971400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:133970200-133971400	Enhancers	NHDF-Ad	bronchial
14	chr3:133970200-133971400	Enhancers	NHEK	skin
15	chr3:133970200-133971400	Enhancers	NHLF	lung
16	chr3:133970200-133971400	Enhancers	Osteobl	bone
17	chr3:133970200-133971600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:133970200-133971600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:133970200-133971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:133970200-133971600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:133970200-133971600	Weak transcription	GM12878-XiMat	blood
22	chr3:133970200-133971800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:133970200-133971800	Enhancers	Aorta	Aorta
24	chr3:133970200-133972000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr3:133970200-133972000	Enhancers	Fetal Muscle Trunk	muscle
26	chr3:133970200-133972200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:133970200-133972200	Enhancers	Placenta	Placenta
28	chr3:133970200-133972400	Enhancers	Fetal Muscle Leg	muscle
29	chr3:133970200-133972400	Enhancers	Fetal Stomach	stomach
30	chr3:133970200-133972600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr3:133970200-133972800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr3:133970200-133972800	Weak transcription	HMEC	breast
33	chr3:133970200-133973200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr3:133970200-133977000	Weak transcription	Colonic Mucosa	Colon
35	chr3:133970200-133977600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:133970400-133971000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:133970400-133971000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr3:133970400-133971000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:133970400-133971000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:133970400-133971000	Enhancers	Pancreas	Pancrea
41	chr3:133970400-133971000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr3:133970400-133971200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:133970400-133971200	Enhancers	Brain Germinal Matrix	brain
44	chr3:133970400-133971200	Enhancers	Duodenum Mucosa	Duodenum
45	chr3:133970400-133971200	Enhancers	HSMM	muscle
46	chr3:133970400-133971200	Enhancers	K562	blood
47	chr3:133970400-133971400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr3:133970400-133971400	Enhancers	Left Ventricle	heart
49	chr3:133970400-133971400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr3:133970400-133971400	Flanking Active TSS	HepG2	liver

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