Variant report

Variant	rs556204484
Chromosome Location	chr1:228136414-228136415
allele	C/G
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	CTBP2	chr1:228135569-228136528	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr1:228135507-228136571	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr1:228135687-228136429	ECC-1	luminal epithelium:	n/a	chr1:228135964-228135973
4	TFAP2C	chr1:228135505-228136530	Hela-S3	cervix:	n/a	n/a
5	MAX	chr1:228133768-228136454	A549	lung:	n/a	chr1:228135877-228135887 chr1:228134844-228134855 chr1:228134529-228134540
6	ZNF263	chr1:228136096-228136513	HEK293-T-REx	kidney:	n/a	n/a
7	MAZ	chr1:228134820-228136540	IMR90	lung:	n/a	chr1:228135877-228135887 chr1:228134844-228134855

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:
2	chr1:227962379..227965351-chr1:228135797..228137632,2	MCF-7	breast:

Variant related genes	Relation type
WNT9A	TF binding region
ENSG00000143740	Chromatin interaction
ENSG00000081692	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
9	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	esv3344015	chr1:228134354-228137302	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3428054	chr1:228134779-228136852	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228134200-228136800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:228134400-228136600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:228134400-228136800	Active TSS	Hela-S3	cervix
4	chr1:228134600-228136600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:228134600-228136600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:228134600-228136800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:228135200-228136600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:228135200-228136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:228135800-228136600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:228135800-228136600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
11	chr1:228135800-228137000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:228136000-228136600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:228136000-228136600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
14	chr1:228136000-228136600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
15	chr1:228136000-228136600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:228136000-228136600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:228136000-228136600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:228136000-228136600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
19	chr1:228136000-228136600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
20	chr1:228136000-228136600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr1:228136000-228136800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
22	chr1:228136000-228136800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr1:228136000-228136800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:228136000-228136800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr1:228136000-228136800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr1:228136000-228136800	Flanking Active TSS	Right Ventricle	heart
27	chr1:228136000-228136800	Bivalent Enhancer	Spleen	Spleen
28	chr1:228136000-228137000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:228136200-228136600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:228136200-228136600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr1:228136200-228136600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:228136200-228136600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr1:228136200-228136600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:228136200-228136600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:228136200-228136600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr1:228136200-228136600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:228136200-228136600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:228136200-228136600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr1:228136200-228136600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr1:228136200-228136600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr1:228136200-228136600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
42	chr1:228136200-228136600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:228136200-228136600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr1:228136200-228136600	Flanking Active TSS	Fetal Brain Male	brain
45	chr1:228136200-228136600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr1:228136200-228136600	Bivalent/Poised TSS	Fetal Kidney	kidney
47	chr1:228136200-228136600	Flanking Active TSS	A549	lung
48	chr1:228136200-228136600	Flanking Active TSS	NHDF-Ad	bronchial
49	chr1:228136200-228136800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr1:228136200-228136800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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