Variant report

Variant	rs4977574
Chromosome Location	chr9:22098574-22098575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22007638..22010379-chr9:22097263..22098945,2	MCF-7	breast:
2	chr9:22078947..22090885-chr9:22096375..22111093,52	MCF-7	breast:
3	chr9:22098016..22100676-chr9:22106122..22109084,4	MCF-7	breast:
4	chr9:22089007..22090799-chr9:22096487..22099589,3	MCF-7	breast:
5	chr9:22003176..22005515-chr9:22097864..22100097,2	MCF-7	breast:
6	chr9:22096125..22098594-chr9:22238044..22240810,3	MCF-7	breast:
7	chr9:22038257..22040958-chr9:22096182..22098663,2	MCF-7	breast:
8	chr9:22083098..22086682-chr9:22096423..22099338,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147883	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1004638	0.90[EUR][1000 genomes]
rs10116277	1.00[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs10217586	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10511701	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10733376	0.90[EUR][1000 genomes]
rs10738606	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10738607	1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10738608	0.94[EUR][1000 genomes]
rs10738609	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10738610	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10757272	1.00[CEU][hapmap];0.89[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10757274	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10757275	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10757277	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10757278	0.87[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10757279	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10811654	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10811656	0.85[EUR][1000 genomes]
rs1333042	1.00[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs1333043	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs1333045	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1333046	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1333047	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs1333048	0.96[CEU][hapmap];0.91[CHB][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1333049	0.86[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs1412834	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs1537370	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1537371	0.95[EUR][1000 genomes]
rs1537372	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1537373	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1537374	0.90[EUR][1000 genomes]
rs1537375	0.92[EUR][1000 genomes]
rs1537376	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1556516	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1970112	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2210538	0.85[EUR][1000 genomes]
rs2383206	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2383207	0.90[EUR][1000 genomes]
rs2891168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4977575	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs4977757	0.91[EUR][1000 genomes]
rs6475606	1.00[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs6475609	0.92[EUR][1000 genomes]
rs7341786	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs7341791	0.89[EUR][1000 genomes]
rs7857118	0.91[EUR][1000 genomes]
rs7859362	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs7859727	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs944797	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9644860	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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 lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

Variant related diseases (count:5)

Disease	PMID	Source
Myocardial infarction (early onset)	19198609	GWAS catalog
Coronary heart disease	21378990	GWAS catalog
Coronary artery disease	21239051	GWAS catalog
Coronary heart disease	21378988	GWAS catalog
Myocardial infarction	24916648	GWAS catalog

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22080600-22098600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:22096000-22099600	Enhancers	Hela-S3	cervix
3	chr9:22096400-22099400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:22096600-22099600	Enhancers	Fetal Intestine Small	intestine
5	chr9:22096800-22098800	Enhancers	Duodenum Mucosa	Duodenum
6	chr9:22096800-22099400	Enhancers	HSMM	muscle
7	chr9:22097000-22099000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:22097000-22099400	Enhancers	NHDF-Ad	bronchial
9	chr9:22097200-22099200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:22097200-22099200	Enhancers	NH-A	brain
11	chr9:22097200-22099400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:22097200-22099400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr9:22097200-22099400	Enhancers	HMEC	breast
14	chr9:22097200-22099400	Enhancers	HSMMtube	muscle
15	chr9:22097200-22099400	Enhancers	NHEK	skin
16	chr9:22097200-22099600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:22097200-22105400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:22097400-22099000	Enhancers	Stomach Mucosa	stomach
19	chr9:22097400-22099000	Enhancers	NHLF	lung
20	chr9:22097400-22099400	Enhancers	Osteobl	bone
21	chr9:22097400-22099600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:22097400-22101800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:22097600-22098600	Weak transcription	Placenta	Placenta
24	chr9:22097600-22099200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:22097600-22099400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr9:22097600-22099600	Enhancers	Adipose Nuclei	Adipose
27	chr9:22097800-22099200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:22097800-22101800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:22097800-22101800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr9:22097800-22102000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:22097800-22102400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr9:22097800-22102600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:22097800-22105400	Weak transcription	Colonic Mucosa	Colon
34	chr9:22097800-22122400	Weak transcription	Dnd41	blood
35	chr9:22098000-22101800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr9:22098000-22101800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:22098000-22101800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:22098000-22102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr9:22098000-22102200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr9:22098000-22102200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr9:22098000-22104200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:22098000-22107600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr9:22098200-22098600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:22098400-22098800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:22098400-22099200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr9:22098400-22099400	Enhancers	Fetal Intestine Large	intestine
47	chr9:22098400-22099600	Enhancers	Cortex derived primary cultured neurospheres	brain

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