Variant report

Variant	rs9867665
Chromosome Location	chr3:48686835-48686836
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48673914..48675991-chr3:48685883..48687496,2	K562	blood:
2	chr3:48634898..48636803-chr3:48686799..48688357,2	MCF-7	breast:
3	chr3:48682803..48684550-chr3:48686732..48688832,2	K562	blood:
4	chr3:48686566..48688475-chr3:48697453..48700260,2	MCF-7	breast:
5	chr3:48686766..48690063-chr3:48696074..48699163,3	MCF-7	breast:
6	chr3:48685756..48688021-chr3:48699492..48702365,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008300	Chromatin interaction
ENSG00000228350	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13325221	1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[AMR][1000 genomes]
rs28789805	1.00[AMR][1000 genomes]
rs3923913	0.84[LWK][hapmap];1.00[MEX][hapmap]
rs9311427	0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs9813424	1.00[AMR][1000 genomes]
rs9841713	1.00[AMR][1000 genomes]
rs9845083	1.00[AMR][1000 genomes]
rs9850498	0.91[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv876763	chr3:48669648-48710310	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48673600-48693400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:48673800-48692800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:48674000-48692600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:48674000-48693400	Weak transcription	Fetal Brain Male	brain
5	chr3:48674000-48693600	Weak transcription	Brain Substantia Nigra	brain
6	chr3:48674200-48692600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:48674400-48691000	Weak transcription	Spleen	Spleen
8	chr3:48674400-48692800	Weak transcription	Placenta	Placenta
9	chr3:48674400-48692800	Weak transcription	Right Ventricle	heart
10	chr3:48674400-48693600	Weak transcription	Gastric	stomach
11	chr3:48674800-48692600	Strong transcription	Fetal Brain Female	brain
12	chr3:48674800-48695600	Weak transcription	Hela-S3	cervix
13	chr3:48675000-48689200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:48675000-48693600	Weak transcription	A549	lung
15	chr3:48675000-48694200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:48675000-48697200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:48675200-48687400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:48675200-48692400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:48676400-48687400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:48676400-48689200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:48676600-48687200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr3:48676600-48687200	Strong transcription	Brain Angular Gyrus	brain
23	chr3:48676600-48691800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:48677000-48687200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:48677600-48692200	Strong transcription	Brain Germinal Matrix	brain
26	chr3:48680000-48695400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:48680800-48690600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:48681000-48690600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:48683400-48691000	Weak transcription	Thymus	Thymus
30	chr3:48684000-48690200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:48684400-48687400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr3:48684400-48692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:48684400-48692600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:48684600-48688000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:48684600-48688400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:48685200-48687000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:48685200-48687200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr3:48685200-48691800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:48685800-48687000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:48685800-48687400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:48686000-48687000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:48686000-48687200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:48686200-48688800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:48686400-48687400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:48686400-48688800	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr3:48686400-48689000	Strong transcription	Brain Anterior Caudate	brain
47	chr3:48686600-48690000	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:48686800-48687000	Strong transcription	HepG2	liver
49	chr3:48686800-48690200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:48686800-48690200	Strong transcription	Fetal Intestine Small	intestine

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