Variant report

Variant	rs77194899
Chromosome Location	chr3:52280500-52280501
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr3:52279829-52280831	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:52277954-52280665	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:52279887-52284777	Hela-S3	cervix:	n/a	n/a
4	MAX	chr3:52279337-52280574	H1-hESC	embryonic stem cell:	n/a	chr3:52279824-52279834
5	POLR2A	chr3:52280328-52280688	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr3:52279671-52280582	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:52279839-52280545	H1-neurons	neurons:	n/a	n/a
8	ESR1	chr3:52280008-52280535	T-47D	breast:	n/a	n/a
9	POLR2A	chr3:52279343-52280576	HUVEC	blood vessel:	n/a	n/a
10	E2F6	chr3:52279655-52280512	H1-hESC	embryonic stem cell:	n/a	chr3:52279827-52279837
11	ZBTB7A	chr3:52279336-52280530	ECC-1	luminal epithelium:	n/a	n/a
12	MXI1	chr3:52279190-52280721	IMR90	lung:	n/a	n/a
13	ELF1	chr3:52277982-52280579	GM12878	blood:	n/a	chr3:52279864-52279877
14	POLR2A	chr3:52280472-52280500	MCF-7	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52278055..52281861-chr3:52310588..52314481,6	K562	blood:
2	chr3:52278277..52281486-chr3:52282865..52288389,9	K562	blood:
3	chr3:52278055..52281861-chr3:52310505..52315451,9	K562	blood:
4	chr3:52280316..52283002-chr3:52418190..52421140,2	K562	blood:
5	chr3:52278407..52281355-chr3:52281666..52283628,3	MCF-7	breast:
6	chr3:52279829..52282973-chr3:52309699..52312689,5	MCF-7	breast:
7	chr3:52278070..52281652-chr3:52320199..52323338,4	MCF-7	breast:
8	chr3:52278312..52281288-chr3:52312020..52314246,3	MCF-7	breast:

No data

Variant related genes	Relation type
PPM1M	TF binding region
ENSG00000164091	Chromatin interaction
ENSG00000164088	Chromatin interaction
ENSG00000114841	Chromatin interaction
ENSG00000168237	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
4	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
8	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
9	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
10	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
11	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
12	nsv876790	chr3:52261382-52286825	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv876791	chr3:52269491-52286825	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	esv3369308	chr3:52279062-52280960	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 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	chr3:52277600-52282000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr3:52278400-52280600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:52278800-52280800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:52278800-52281400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr3:52279000-52280600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:52279000-52280600	Enhancers	Fetal Heart	heart
7	chr3:52279000-52281400	Flanking Active TSS	Dnd41	blood
8	chr3:52279000-52281400	Active TSS	Osteobl	bone
9	chr3:52279000-52281800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:52279200-52280600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:52279200-52280600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr3:52279200-52280600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr3:52279200-52280600	Active TSS	Fetal Kidney	kidney
14	chr3:52279200-52280800	Active TSS	Right Atrium	heart
15	chr3:52279400-52280600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:52279400-52281000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:52279600-52280600	Active TSS	Brain Cingulate Gyrus	brain
18	chr3:52279600-52280600	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr3:52279600-52280600	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr3:52279600-52280600	Active TSS	HSMMtube	muscle
21	chr3:52279600-52281000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:52279600-52281200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr3:52279600-52281200	Active TSS	Stomach Mucosa	stomach
24	chr3:52279600-52281600	Active TSS	Brain Substantia Nigra	brain
25	chr3:52279600-52287400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:52279800-52280600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:52279800-52280600	Enhancers	Primary hematopoietic stem cells	blood
28	chr3:52280000-52280600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:52280000-52280600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:52280000-52280600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr3:52280000-52280600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr3:52280000-52280600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr3:52280000-52280600	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr3:52280000-52280600	Flanking Active TSS	Left Ventricle	heart
35	chr3:52280000-52280600	Flanking Active TSS	Pancreas	Pancrea
36	chr3:52280000-52280600	Flanking Active TSS	Right Ventricle	heart
37	chr3:52280000-52280600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
38	chr3:52280000-52280600	Flanking Active TSS	HepG2	liver
39	chr3:52280000-52280800	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr3:52280000-52280800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr3:52280000-52280800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:52280000-52280800	Flanking Active TSS	Liver	Liver
43	chr3:52280000-52280800	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr3:52280000-52280800	Flanking Active TSS	NHLF	lung
45	chr3:52280000-52281000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:52280000-52281000	Flanking Active TSS	Placenta	Placenta
47	chr3:52280000-52281200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr3:52280000-52281200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr3:52280000-52281200	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr3:52280000-52281200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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