Variant report

Variant	rs587641494
Chromosome Location	chr1:150948234-150948235
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150948053-150948378	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:150948110-150948466	K562	blood:	n/a	n/a
3	ZNF384	chr1:150948190-150950083	K562	blood:	n/a	n/a
4	POLR2A	chr1:150945760-150950424	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150946206..150948952-chr1:151031959..151033620,2	K562	blood:
2	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
3	chr1:150897410..150900366-chr1:150947492..150952156,4	K562	blood:
4	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
5	chr1:150897410..150899179-chr1:150947492..150949288,2	K562	blood:
6	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
7	chr1:150948040..150949859-chr1:150959159..150961414,2	K562	blood:
8	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
9	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
10	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
11	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
12	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
13	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
14	chr1:149859214..149861702-chr1:150947048..150949834,2	MCF-7	breast:
15	chr1:150802146..150804523-chr1:150946488..150948912,2	MCF-7	breast:

No data

Variant related genes	Relation type
CERS2	TF binding region
ENSG00000143409	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143379	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
6	esv3405761	chr1:150945953-150948501	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150945800-150948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:150946000-150948600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:150946200-150948400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:150946400-150948600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:150946600-150948600	Active TSS	Fetal Brain Female	brain
6	chr1:150946800-150948800	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:150947400-150948800	Enhancers	Fetal Brain Male	brain
8	chr1:150947600-150949800	Weak transcription	Gastric	stomach
9	chr1:150947800-150949600	Enhancers	HMEC	breast
10	chr1:150947800-150949800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:150947800-150950400	Enhancers	Stomach Mucosa	stomach
12	chr1:150947800-150950400	Flanking Active TSS	K562	blood
13	chr1:150947800-150950400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:150948000-150948400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:150948000-150948600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:150948000-150948600	Enhancers	A549	lung
17	chr1:150948000-150948600	Enhancers	Hela-S3	cervix
18	chr1:150948000-150948800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:150948000-150948800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:150948000-150948800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:150948000-150948800	Weak transcription	Lung	lung
22	chr1:150948000-150949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:150948000-150949200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:150948000-150949200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:150948000-150949200	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:150948000-150949200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:150948000-150949200	Weak transcription	Brain Angular Gyrus	brain
28	chr1:150948000-150949200	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:150948000-150949200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:150948000-150949200	Weak transcription	NH-A	brain
31	chr1:150948000-150949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:150948000-150949400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:150948000-150949400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:150948000-150949400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:150948000-150949400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:150948000-150949400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr1:150948000-150949400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr1:150948000-150949400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:150948000-150949400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:150948000-150949400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:150948000-150949400	Enhancers	HepG2	liver
42	chr1:150948000-150949400	Weak transcription	NHDF-Ad	bronchial
43	chr1:150948000-150949400	Weak transcription	Osteobl	bone
44	chr1:150948000-150949600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:150948000-150949600	Enhancers	Primary B cells from peripheral blood	blood
46	chr1:150948000-150949600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr1:150948000-150949600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:150948000-150949600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:150948000-150949600	Weak transcription	HSMMtube	muscle
50	chr1:150948000-150949600	Weak transcription	NHLF	lung

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