Variant report

Variant	rs551494199
Chromosome Location	chr9:976152-976153
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	ZNF263	chr9:975708-978049	HEK293-T-REx	kidney:	n/a	n/a
2	KAP1	chr9:976085-976332	HEK293	kidney:	n/a	n/a
3	EGR1	chr9:976081-976571	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr9:974936-978765	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr9:975752-978187	H1-hESC	embryonic stem cell:	n/a	n/a
6	SUZ12	chr9:972157-978361	NT2-D1	testis:	n/a	n/a
7	POLR2A	chr9:975227-977526	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr9:973952-976344	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:970488..973347-chr9:974585..976403,2	K562	blood:

Variant related genes	Relation type
DMRT3	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025492	chr9:478813-1157169	Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv539897	chr9:478813-1157169	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv429977	chr9:584087-983301	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers 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 target site	11 gene(s)	inside rSNPs	diseases
4	nsv613037	chr9:643453-1138368	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817248	chr9:706283-1457665	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv892010	chr9:841152-1069663	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1034070	chr9:911265-1152351	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv2755928	chr9:924525-985979	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv892013	chr9:943611-1047343	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1018926	chr9:965006-1014141	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv892014	chr9:972476-1032153	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3408115	chr9:975477-978825	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:973000-976200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:974400-977800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr9:975200-976800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr9:975400-976200	Weak transcription	Pancreas	Pancrea
5	chr9:975400-976200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
6	chr9:975400-978800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr9:975600-976400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr9:975600-977400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:975800-976200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr9:975800-976200	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr9:975800-976200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr9:975800-976600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:975800-977400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr9:976000-976200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:976000-976200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr9:976000-976200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:976000-976200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
18	chr9:976000-976200	Bivalent Enhancer	Fetal Lung	lung
19	chr9:976000-976200	Bivalent Enhancer	A549	lung
20	chr9:976000-976400	Bivalent Enhancer	Colon Smooth Muscle	Colon
21	chr9:976000-976400	Bivalent Enhancer	Fetal Heart	heart
22	chr9:976000-976600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:976000-976600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr9:976000-976600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr9:976000-976600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr9:976000-976600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr9:976000-976600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr9:976000-976800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:976000-977200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr9:976000-977200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr9:976000-977200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr9:976000-977600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr9:976000-977600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr9:976000-977600	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr9:976000-977600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr9:976000-977800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
37	chr9:976000-977800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr9:976000-977800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:976000-977800	Bivalent Enhancer	Fetal Stomach	stomach

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