Variant report

Variant	rs4980508
Chromosome Location	chr11:63941734-63941735
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63940462..63942702-chr11:63944754..63946922,2	K562	blood:
2	chr11:63939881..63941912-chr11:63953527..63955310,2	MCF-7	breast:
3	chr11:63941171..63943275-chr11:63960661..63963343,2	K562	blood:
4	chr11:63941163..63943232-chr11:63946290..63948899,3	K562	blood:
5	chr11:63941531..63943845-chr11:63945242..63947346,2	MCF-7	breast:
6	chr11:63935207..63938760-chr11:63941308..63944711,4	K562	blood:
7	chr11:63932546..63936722-chr11:63939666..63943195,7	MCF-7	breast:
8	chr11:63931475..63933444-chr11:63941158..63944356,3	K562	blood:
9	chr11:63941044..63943669-chr11:63952168..63954248,2	K562	blood:
10	chr11:63941253..63944004-chr11:63950549..63953668,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11231722	0.97[ASN][1000 genomes]
rs1123251	0.95[GIH][hapmap]
rs11603192	0.80[CHB][hapmap];0.80[CHD][hapmap]
rs11603384	0.85[CHD][hapmap]
rs12418535	0.80[CHB][hapmap]
rs12787945	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[ASN][1000 genomes]
rs17699798	0.82[AFR][1000 genomes]
rs1860368	0.83[CHD][hapmap];0.83[JPT][hapmap]
rs2186643	0.86[GIH][hapmap]
rs2236647	0.93[ASW][hapmap];0.82[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2236648	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[ASN][1000 genomes]
rs2282492	0.80[CHB][hapmap];0.80[CHD][hapmap];0.83[JPT][hapmap]
rs2429455	0.81[CHD][hapmap]
rs2515241	0.80[CHB][hapmap]
rs2701533	0.96[ASN][1000 genomes]
rs2845597	0.80[CHB][hapmap];0.88[CHD][hapmap]
rs2875748	0.93[ASW][hapmap];0.98[GIH][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs3751122	0.80[YRI][hapmap]
rs4980524	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs604203	0.81[CHD][hapmap]
rs627055	0.95[GIH][hapmap]
rs645461	0.85[ASN][1000 genomes]
rs7111753	0.80[ASN][1000 genomes]
rs7112960	0.80[CHB][hapmap];0.80[CHD][hapmap]
rs7938819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs882147	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
6	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
7	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
8	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
11	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	237 gene(s)	inside rSNPs	diseases
12	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
13	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
14	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
15	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
16	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
17	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4980508	FKBP2	cis	parietal	SCAN
rs4980508	PRDX5	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63934200-63948000	Weak transcription	Right Ventricle	heart
2	chr11:63934200-63948200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:63934200-63948200	Weak transcription	Esophagus	oesophagus
4	chr11:63934200-63948200	Weak transcription	Stomach Mucosa	stomach
5	chr11:63934200-63948800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:63934200-63950800	Weak transcription	Gastric	stomach
7	chr11:63934400-63944200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:63934400-63948000	Weak transcription	Right Atrium	heart
9	chr11:63934600-63944400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:63935000-63948200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:63935600-63946400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:63935800-63947400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:63935800-63948000	Weak transcription	Pancreas	Pancrea
14	chr11:63937600-63946800	Weak transcription	A549	lung
15	chr11:63941000-63941800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:63941000-63941800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:63941200-63941800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:63941200-63941800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
19	chr11:63941200-63941800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:63941200-63942000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:63941200-63942000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:63941200-63942000	Enhancers	K562	blood
23	chr11:63941200-63942800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:63941400-63948200	Weak transcription	Brain Substantia Nigra	brain
25	chr11:63941600-63941800	ZNF genes & repeats	Osteobl	bone
26	chr11:63941600-63945400	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:63941600-63946800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:63941600-63949000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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