Variant report

Variant	rs73654563
Chromosome Location	chr9:98225820-98225821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:98224260-98226090	GM12878	blood:	n/a	n/a
2	POLR2A	chr9:98224654-98226221	GM19193	blood:	n/a	n/a
3	RELA	chr9:98224523-98226061	GM10847	blood:	n/a	n/a
4	MAZ	chr9:98224550-98226453	IMR90	lung:	n/a	chr9:98225514-98225524
5	POLR2A	chr9:98224579-98225912	K562	blood:	n/a	n/a
6	POLR2A	chr9:98224635-98226057	GM18951	blood:	n/a	n/a
7	POLR2A	chr9:98224439-98226044	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:98224195-98225950	GM12878	blood:	n/a	n/a
9	MXI1	chr9:98224420-98225943	IMR90	lung:	n/a	n/a
10	ZC3H11A	chr9:98225777-98225864	K562	blood:	n/a	n/a
11	POLR2A	chr9:98224144-98226168	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:98224335-98226055	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:98223864..98226761-chr9:98228381..98231062,3	K562	blood:
2	chr9:98223555..98229775-chr9:98269693..98275962,10	K562	blood:
3	chr9:98218910..98222494-chr9:98224731..98227835,5	K562	blood:
4	chr9:98222977..98229750-chr9:98267050..98274823,12	K562	blood:
5	chr9:98223412..98227347-chr9:98253313..98257210,3	K562	blood:

No data

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000271314	Chromatin interaction
ENSG00000271155	Chromatin interaction
ENSG00000185920	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4647388	1.00[AMR][1000 genomes]
rs55748901	1.00[AMR][1000 genomes]
rs55772972	1.00[AMR][1000 genomes]

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	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv949520	chr9:98204199-98238358	Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1053762	chr9:98208542-98232120	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1047465	chr9:98217524-98228225	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98206000-98237600	Weak transcription	Psoas Muscle	Psoas
2	chr9:98218800-98227400	Genic enhancers	Fetal Stomach	stomach
3	chr9:98221400-98226400	Genic enhancers	Fetal Intestine Small	intestine
4	chr9:98221800-98232400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:98223200-98226200	Genic enhancers	Fetal Intestine Large	intestine
6	chr9:98223400-98266400	Weak transcription	Hela-S3	cervix
7	chr9:98223600-98227600	Weak transcription	A549	lung
8	chr9:98224000-98226200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:98224000-98226400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr9:98224000-98228800	Weak transcription	Liver	Liver
11	chr9:98224200-98226200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:98224200-98226200	Enhancers	Fetal Heart	heart
13	chr9:98224200-98227200	Weak transcription	Gastric	stomach
14	chr9:98224200-98227600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:98224200-98228000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:98224200-98228800	Weak transcription	Right Ventricle	heart
17	chr9:98224200-98229000	Weak transcription	Esophagus	oesophagus
18	chr9:98224400-98226000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:98224400-98226200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr9:98224400-98228800	Weak transcription	HepG2	liver
21	chr9:98224600-98226000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:98224600-98226200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:98224600-98226200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:98224600-98226200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:98224600-98226200	Enhancers	Placenta	Placenta
26	chr9:98224600-98226200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr9:98224600-98226400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr9:98224600-98226400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:98224600-98226600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr9:98224600-98228800	Weak transcription	Aorta	Aorta
31	chr9:98224800-98226600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:98225000-98226000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr9:98225000-98226200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:98225000-98226200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:98225000-98226400	Enhancers	Stomach Mucosa	stomach
36	chr9:98225000-98226600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:98225000-98226800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:98225000-98227200	Weak transcription	Small Intestine	intestine
39	chr9:98225000-98228200	Genic enhancers	Fetal Lung	lung
40	chr9:98225000-98228800	Weak transcription	Lung	lung
41	chr9:98225200-98226000	Enhancers	Fetal Brain Female	brain
42	chr9:98225200-98226200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:98225200-98226400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr9:98225200-98229000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr9:98225400-98226000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr9:98225400-98226000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:98225400-98226000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr9:98225400-98226000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr9:98225400-98226000	Flanking Active TSS	Thymus	Thymus
50	chr9:98225400-98226000	Flanking Active TSS	HSMM	muscle

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