Variant report

Variant	rs481296
Chromosome Location	chr11:66419554-66419555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66417428..66419556-chr11:66454925..66456744,2	K562	blood:
2	chr11:66416826..66421657-chr11:66443752..66448212,5	K562	blood:

Variant related genes	Relation type
ENSG00000173898	Chromatin interaction
ENSG00000173914	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12795774	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1987169	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2242663	0.83[CHD][hapmap];0.92[JPT][hapmap]
rs2282640	0.85[JPT][hapmap]
rs2511224	0.85[JPT][hapmap]
rs2511225	0.85[JPT][hapmap]
rs3741364	0.80[CEU][hapmap]
rs484262	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs508996	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs532439	0.90[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap]
rs551708	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.85[ASN][1000 genomes]
rs610293	0.85[JPT][hapmap]
rs624561	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7951189	0.85[JPT][hapmap]

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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs481296	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs481296	FERMT3	cis	cerebellum	SCAN
rs481296	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs481296	ACTN3	cis	Muscle Skeletal	GTEx
rs481296	CCS	cis	lymphoblastoid	seeQTL
rs481296	ACTN3	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66407000-66434400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66409800-66421600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:66410600-66421200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:66411000-66421600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:66411400-66421600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:66411600-66420600	Strong transcription	NHLF	lung
7	chr11:66411600-66421200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:66411800-66421000	Strong transcription	Fetal Intestine Large	intestine
9	chr11:66411800-66436200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:66411800-66436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:66411800-66442800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:66412000-66434400	Strong transcription	Fetal Thymus	thymus
13	chr11:66412000-66438800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:66412200-66420000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:66412200-66421200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:66412600-66421600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:66412600-66421800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:66412600-66424800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:66412800-66420200	Strong transcription	Osteobl	bone
20	chr11:66412800-66420600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:66412800-66430600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:66412800-66435800	Strong transcription	Thymus	Thymus
23	chr11:66412800-66436800	Strong transcription	Fetal Intestine Small	intestine
24	chr11:66413000-66420600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:66413000-66421200	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr11:66413000-66421600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:66413000-66423400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:66413000-66435800	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:66413000-66436600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:66413000-66440400	Strong transcription	Fetal Stomach	stomach
31	chr11:66413000-66442600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:66413400-66421400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:66413400-66438400	Strong transcription	Dnd41	blood
34	chr11:66413600-66420600	Strong transcription	GM12878-XiMat	blood
35	chr11:66413600-66420800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:66413600-66420800	Strong transcription	HSMM	muscle
37	chr11:66413600-66438400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:66413800-66420800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:66413800-66422400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:66413800-66430400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:66414000-66427000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:66414200-66425400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:66414200-66426200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:66414400-66420400	Strong transcription	Primary T cells from cord blood	blood
45	chr11:66414400-66427200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:66414600-66420000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:66414600-66421600	Strong transcription	Liver	Liver
48	chr11:66414800-66427000	Weak transcription	Fetal Heart	heart
49	chr11:66414800-66432600	Weak transcription	Aorta	Aorta
50	chr11:66414800-66436000	Weak transcription	Right Ventricle	heart

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