Variant report

Variant	rs9845968
Chromosome Location	chr3:46531144-46531145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:46530191-46531777	IMR90	lung:	n/a	n/a
2	HMGN3	chr3:46530238-46531225	K562	blood:	n/a	n/a
3	RCOR1	chr3:46530846-46532307	IMR90	lung:	n/a	n/a
4	RAD21	chr3:46531032-46531745	IMR90	lung:	n/a	n/a
5	CTCF	chr3:46530079-46531251	SK-N-SH	brain:	n/a	chr3:46531056-46531069
6	CTCF	chr3:46530049-46531190	HCT-116	colon:	n/a	chr3:46531056-46531069
7	JUN	chr3:46530075-46531302	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46530293..46531287-chr3:46600917..46601700,2	K562	blood:
2	chr3:46530210..46534355-chr3:46598500..46601064,4	K562	blood:
3	chr3:46530210..46534355-chr3:46597750..46601064,4	K562	blood:
4	chr3:46528809..46531447-chr3:46546904..46549677,2	K562	blood:
5	chr3:46529825..46532011-chr3:46599266..46600570,56	K562	blood:
6	chr3:46531010..46533398-chr3:46589733..46592357,3	K562	blood:
7	chr3:46530992..46532877-chr3:46591442..46593990,2	K562	blood:
8	chr3:46530490..46532908-chr3:46536819..46540385,3	K562	blood:
9	chr3:46531009..46531629-chr3:46599490..46600081,2	MCF-7	breast:

No data

Variant related genes	Relation type
LTF	TF binding region
ENSG00000163825	Chromatin interaction
ENSG00000264306	Chromatin interaction
ENSG00000268324	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7430431	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs867620	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46529400-46534200	Enhancers	Dnd41	blood
2	chr3:46529800-46531200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr3:46530000-46531600	Enhancers	Fetal Thymus	thymus
4	chr3:46530000-46531800	Enhancers	NH-A	brain
5	chr3:46530200-46531200	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:46530200-46531200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:46530200-46531200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr3:46530200-46531800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr3:46530200-46533800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:46530400-46531200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:46530400-46531200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:46530400-46531200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:46530400-46531200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:46530400-46531200	Enhancers	Esophagus	oesophagus
15	chr3:46530400-46531200	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr3:46530400-46531200	Enhancers	Psoas Muscle	Psoas
17	chr3:46530400-46531200	Enhancers	Right Ventricle	heart
18	chr3:46530400-46531200	Enhancers	NHEK	skin
19	chr3:46530400-46531400	Enhancers	Gastric	stomach
20	chr3:46530400-46531400	Enhancers	Left Ventricle	heart
21	chr3:46530400-46531600	Enhancers	Primary hematopoietic stem cells	blood
22	chr3:46530400-46531600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:46530400-46531600	Enhancers	HMEC	breast
24	chr3:46530400-46531800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:46530400-46533000	Enhancers	NHDF-Ad	bronchial
26	chr3:46530400-46533400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:46530400-46533600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:46530400-46533800	Enhancers	HSMM	muscle
29	chr3:46530400-46534200	Enhancers	Osteobl	bone
30	chr3:46530600-46531400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr3:46530600-46531400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr3:46530600-46531400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:46530600-46531400	Enhancers	NHLF	lung
34	chr3:46530600-46532000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:46530600-46532800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:46530600-46533200	Enhancers	HSMMtube	muscle
37	chr3:46530800-46531200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:46530800-46531200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr3:46530800-46531200	Enhancers	Primary B cells from cord blood	blood
40	chr3:46530800-46531400	Enhancers	Hela-S3	cervix
41	chr3:46530800-46531600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr3:46530800-46531600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr3:46530800-46531600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr3:46530800-46531600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:46530800-46531800	Enhancers	Primary T cells from cord blood	blood
46	chr3:46530800-46531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:46530800-46532400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr3:46530800-46532400	Enhancers	Thymus	Thymus
49	chr3:46530800-46532600	Weak transcription	Right Atrium	heart
50	chr3:46530800-46533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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