Variant report

Variant	rs573563552
Chromosome Location	chr9:2624263-2624264
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	chr9:2622073-2625205	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr9:2620701-2624354	IMR90	lung:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495
3	MXI1	chr9:2619904-2624722	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr9:2623681-2624674	A549	lung:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2623970-2623983 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
5	TEAD4	chr9:2623929-2624374	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr9:2623325-2624292	H1-hESC	embryonic stem cell:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2622798..2625667-chr9:2640741..2642429,2	K562	blood:
2	chr9:2620987..2624573-chr9:2639977..2643677,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236404	TF binding region
ENSG00000236404	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv529508	chr9:2267812-2684272	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv916750	chr9:2430846-2826706	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv531564	chr9:2452325-2700375	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1029876	chr9:2526760-2633562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv892069	chr9:2600836-2631738	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv892070	chr9:2610307-2633921	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv892071	chr9:2618969-2626031	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv892073	chr9:2620592-2627365	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv527298	chr9:2621030-2631092	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv892074	chr9:2623615-2629776	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2620800-2624400	Active TSS	Right Ventricle	heart
2	chr9:2621400-2624800	Active TSS	Stomach Smooth Muscle	stomach
3	chr9:2623000-2624400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr9:2623000-2625000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr9:2623000-2625200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr9:2623400-2624400	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr9:2623600-2626600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:2623800-2624400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:2623800-2624400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:2623800-2624400	Enhancers	Placenta	Placenta
11	chr9:2623800-2624400	Flanking Active TSS	A549	lung
12	chr9:2623800-2624600	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:2623800-2630400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:2623800-2641000	Weak transcription	Esophagus	oesophagus
15	chr9:2624000-2624400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:2624000-2624400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
17	chr9:2624000-2624400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr9:2624000-2624400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:2624000-2624400	Enhancers	Liver	Liver
20	chr9:2624000-2624400	Flanking Active TSS	Fetal Kidney	kidney
21	chr9:2624000-2624400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr9:2624000-2624400	Enhancers	Rectal Smooth Muscle	rectum
23	chr9:2624000-2624800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:2624000-2624800	Enhancers	Brain Cingulate Gyrus	brain
25	chr9:2624000-2625000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:2624000-2625000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:2624000-2625000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:2624000-2625000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr9:2624000-2625000	Flanking Active TSS	Ovary	ovary
30	chr9:2624000-2625000	Enhancers	Right Atrium	heart
31	chr9:2624000-2625400	Enhancers	Brain Angular Gyrus	brain
32	chr9:2624000-2627200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:2624000-2630000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr9:2624000-2636000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:2624200-2624400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:2624200-2624400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr9:2624200-2624400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr9:2624200-2624400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr9:2624200-2624400	Weak transcription	Pancreas	Pancrea
40	chr9:2624200-2624400	Enhancers	HMEC	breast
41	chr9:2624200-2624400	Enhancers	NHEK	skin
42	chr9:2624200-2624600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:2624200-2624600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr9:2624200-2624600	Enhancers	Brain Substantia Nigra	brain
45	chr9:2624200-2624600	Enhancers	Fetal Lung	lung
46	chr9:2624200-2624800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:2624200-2624800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:2624200-2624800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:2624200-2624800	Enhancers	Brain Anterior Caudate	brain
50	chr9:2624200-2624800	Enhancers	Brain Hippocampus Middle	brain

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