Variant report

Variant	rs1133215
Chromosome Location	chr1:227164728-227164729
allele	A/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	POLR2A	chr1:227164510-227164859	HepG2	liver:	n/a	n/a
2	SPI1	chr1:227164580-227164898	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:227164382-227167024	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227127948..227129868-chr1:227162930..227165927,2	MCF-7	breast:
2	chr1:227129763..227131276-chr1:227162634..227164932,2	K562	blood:

Variant related genes	Relation type
ADCK3	TF binding region
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv873236	chr1:227118912-227173537	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3435142	chr1:227163129-227165127	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3370387	chr1:227164229-227168527	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3339854	chr1:227164429-227167727	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227131000-227171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:227147000-227177000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:227148600-227180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:227154400-227165800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
6	chr1:227154800-227176800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:227158400-227173200	Weak transcription	K562	blood
8	chr1:227158400-227174600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:227158400-227183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:227159000-227175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:227159800-227165800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:227159800-227174000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:227160000-227173600	Weak transcription	A549	lung
14	chr1:227160000-227174400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:227160000-227174400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:227160000-227174800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:227160000-227177200	Weak transcription	GM12878-XiMat	blood
18	chr1:227160200-227165200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:227160200-227165200	Enhancers	Liver	Liver
20	chr1:227160400-227164800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:227160400-227165200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:227160600-227165000	Enhancers	Right Ventricle	heart
23	chr1:227160600-227165400	Enhancers	Left Ventricle	heart
24	chr1:227160600-227165800	Enhancers	Psoas Muscle	Psoas
25	chr1:227160600-227175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:227160800-227164800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:227160800-227164800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:227160800-227181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:227161000-227165000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:227161200-227165400	Weak transcription	Primary B cells from cord blood	blood
31	chr1:227161600-227165400	Weak transcription	Fetal Brain Female	brain
32	chr1:227162200-227166600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:227162200-227169400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:227162200-227176000	Strong transcription	Primary T cells from cord blood	blood
35	chr1:227162400-227173600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:227162400-227174200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:227162400-227174200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:227162400-227175200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:227162400-227181600	Weak transcription	NHEK	skin
40	chr1:227162600-227174200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:227162600-227174200	Weak transcription	Aorta	Aorta
42	chr1:227162600-227175800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:227162600-227176600	Strong transcription	Thymus	Thymus
44	chr1:227162800-227165000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:227162800-227165600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:227162800-227172000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:227162800-227173600	Weak transcription	NHLF	lung
48	chr1:227162800-227174000	Weak transcription	Osteobl	bone
49	chr1:227162800-227174200	Weak transcription	NHDF-Ad	bronchial
50	chr1:227163000-227165000	Weak transcription	Primary B cells from peripheral blood	blood

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