Variant report

Variant	rs568736054
Chromosome Location	chr3:120066840-120066841
allele	C/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	MYC	chr3:120066830-120067540	MCF10A-Er-Src	breast:	n/a	n/a
2	MAX	chr3:120066805-120068834	MCF-7	breast:	n/a	chr3:120068105-120068114
3	MXI1	chr3:120066827-120068840	IMR90	lung:	n/a	n/a
4	SIN3AK20	chr3:120066798-120068929	MCF-7	breast:	n/a	n/a
5	E2F4	chr3:120066795-120067097	MCF10A-Er-Src	breast:	n/a	n/a
6	WRNIP1	chr3:120066821-120067560	GM12878	blood:	n/a	n/a
7	MXI1	chr3:120066551-120069108	SK-N-SH	brain:	n/a	n/a
8	MAX	chr3:120066837-120067483	K562	blood:	n/a	n/a
9	CHD2	chr3:120066801-120068698	GM12878	blood:	n/a	chr3:120068298-120068308 chr3:120068303-120068313
10	MXI1	chr3:120066821-120069022	GM12878	blood:	n/a	n/a
11	MAX	chr3:120066828-120068854	HepG2	liver:	n/a	chr3:120068105-120068114
12	MAX	chr3:120066725-120069028	A549	lung:	n/a	chr3:120068105-120068114 chr3:120068883-120068891

No.	Distal block	Cell Line	Cell type
1	chr3:119962878..119965844-chr3:120065668..120069448,4	MCF-7	breast:
2	chr3:120055756..120058586-chr3:120065980..120068170,2	K562	blood:
3	chr3:119813314..119815193-chr3:120066557..120069483,2	MCF-7	breast:
4	chr3:120066130..120068617-chr3:120117930..120119437,2	K562	blood:
5	chr3:120066467..120068992-chr3:120105411..120108399,2	MCF-7	breast:
6	chr3:120002820..120005702-chr3:120066388..120068289,2	MCF-7	breast:
7	chr3:119810967..119815661-chr3:120066752..120069801,5	K562	blood:

Variant related genes	Relation type
ENSG00000240661	TF binding region
ENSG00000082701	Chromatin interaction
ENSG00000242613	Chromatin interaction
ENSG00000175697	Chromatin interaction
ENSG00000163430	Chromatin interaction
ENSG00000242622	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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv236293	chr3:120066250-120069861	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
12	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS 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	33 gene(s)	inside rSNPs	diseases
14	nsv3968	chr3:120066454-120111463	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120026800-120067200	Weak transcription	Aorta	Aorta
2	chr3:120033200-120067000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:120051000-120067000	Weak transcription	Esophagus	oesophagus
4	chr3:120052600-120067000	Weak transcription	Left Ventricle	heart
5	chr3:120057800-120067000	Weak transcription	Small Intestine	intestine
6	chr3:120061400-120067000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:120061600-120067000	Weak transcription	Spleen	Spleen
8	chr3:120063000-120067000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr3:120064800-120067000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:120065200-120067000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:120065200-120067000	Weak transcription	Lung	lung
12	chr3:120065200-120067200	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr3:120065800-120067000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:120066200-120067000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:120066400-120067000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:120066400-120067000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:120066400-120067000	Enhancers	Pancreas	Pancrea
18	chr3:120066400-120067200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr3:120066400-120067600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:120066600-120067000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:120066600-120067000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr3:120066600-120067000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:120066600-120067000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr3:120066600-120067000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:120066600-120067000	Enhancers	Liver	Liver
26	chr3:120066600-120067000	Flanking Active TSS	HepG2	liver
27	chr3:120066600-120067000	Flanking Active TSS	HMEC	breast
28	chr3:120066600-120067000	Flanking Active TSS	NHDF-Ad	bronchial
29	chr3:120066600-120067200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:120066600-120067200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:120066600-120067200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:120066600-120067200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:120066600-120067200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr3:120066600-120067200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr3:120066600-120067200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:120066600-120067200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:120066600-120067200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr3:120066600-120067200	Flanking Active TSS	Fetal Stomach	stomach
39	chr3:120066600-120067200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr3:120066600-120067200	Flanking Active TSS	Hela-S3	cervix
41	chr3:120066600-120067400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:120066600-120067400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:120066600-120067400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr3:120066600-120067400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr3:120066600-120067400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:120066600-120067400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr3:120066600-120067400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr3:120066600-120067400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:120066600-120067400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr3:120066600-120067400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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