Variant report

Variant	rs62580295
Chromosome Location	chr9:97488211-97488212
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	CBX3	chr9:97488194-97488714	K562	blood:	n/a	n/a
2	POLR2A	chr9:97488147-97489358	HepG2	liver:	n/a	n/a
3	CBX3	chr9:97488183-97489269	K562	blood:	n/a	n/a
4	JUN	chr9:97488183-97489629	K562	blood:	n/a	chr9:97488945-97488958 chr9:97488949-97488958

No.	Distal block	Cell Line	Cell type
1	chr9:97487422..97488922-chr9:97489538..97492187,2	K562	blood:
2	chr9:97476575..97480108-chr9:97483463..97488738,5	MCF-7	breast:
3	chr9:97483583..97486374-chr9:97487367..97488932,2	K562	blood:
4	chr9:97399286..97401961-chr9:97487355..97490023,2	MCF-7	breast:
5	chr9:97484874..97487089-chr9:97487277..97488932,2	K562	blood:

Variant related genes	Relation type
C9orf3	TF binding region
ENSG00000165140	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28412726	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1041922	chr9:97444976-97536753	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97479000-97488400	Weak transcription	Fetal Intestine Large	intestine
2	chr9:97483600-97488400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:97483600-97488400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:97483600-97488600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:97483800-97488400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:97483800-97488400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:97483800-97488400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:97483800-97488400	Weak transcription	NHEK	skin
9	chr9:97484000-97488400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:97484000-97488400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:97484200-97488400	Weak transcription	Brain Hippocampus Middle	brain
12	chr9:97484400-97488400	Weak transcription	Fetal Kidney	kidney
13	chr9:97484800-97488600	Weak transcription	NHDF-Ad	bronchial
14	chr9:97486600-97488400	Enhancers	HepG2	liver
15	chr9:97487400-97488400	Weak transcription	Hela-S3	cervix
16	chr9:97487400-97488400	Weak transcription	K562	blood
17	chr9:97487400-97488400	Weak transcription	NH-A	brain
18	chr9:97487600-97490000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr9:97488000-97488400	Weak transcription	Right Atrium	heart
20	chr9:97488200-97488400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:97488200-97488400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr9:97488200-97488400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr9:97488200-97488400	Enhancers	Primary B cells from cord blood	blood
24	chr9:97488200-97488400	Enhancers	Primary B cells from peripheral blood	blood
25	chr9:97488200-97488400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr9:97488200-97488400	Enhancers	Primary hematopoietic stem cells	blood
27	chr9:97488200-97488400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr9:97488200-97488400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr9:97488200-97488400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr9:97488200-97488400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:97488200-97488400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:97488200-97488400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr9:97488200-97488400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:97488200-97488400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:97488200-97488400	Enhancers	Adipose Nuclei	Adipose
36	chr9:97488200-97488400	Enhancers	Fetal Intestine Small	intestine
37	chr9:97488200-97488400	Enhancers	Fetal Muscle Trunk	muscle
38	chr9:97488200-97488400	Enhancers	Fetal Thymus	thymus
39	chr9:97488200-97488400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr9:97488200-97488400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr9:97488200-97488400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr9:97488200-97488400	Enhancers	Osteobl	bone
43	chr9:97488200-97488600	Enhancers	Placenta	Placenta
44	chr9:97488200-97488600	Flanking Active TSS	Dnd41	blood
45	chr9:97488200-97489400	Active TSS	Duodenum Smooth Muscle	Duodenum

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