Variant report

Variant	rs2081361
Chromosome Location	chr11:57411742-57411743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:57411620-57411770	HCM	heart:	n/a	n/a
2	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:57404802-57417187	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr11:57410100-57417938	PBDE	blood:	n/a	n/a
7	POLR2A	chr11:57409804-57420281	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:57411074-57411825	SK-N-MC	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57411538..57413091-chr11:57423300..57425446,2	K562	blood:
2	chr11:57334278..57336865-chr11:57411196..57413730,2	K562	blood:
3	chr11:57411538..57415148-chr11:57422707..57424942,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254602	TF binding region
CLP1	TF binding region
ENSG00000156587	Chromatin interaction
ENSG00000172409	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10750866	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896631	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10896632	0.84[ASN][1000 genomes]
rs10896633	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10896636	0.85[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11229063	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11229066	1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11229067	1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11229075	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11229077	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229078	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229080	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11570190	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11602109	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11603020	1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11604325	0.83[AFR][1000 genomes]
rs11604333	0.83[AFR][1000 genomes]
rs11605731	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11606396	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11606677	1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11606706	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11607056	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11820040	0.82[ASN][1000 genomes]
rs12146541	0.83[AFR][1000 genomes]
rs12362166	0.88[AFR][1000 genomes]
rs12785533	0.83[AFR][1000 genomes]
rs12804972	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12805841	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12807250	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1647395	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1647405	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs28362947	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs28362948	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs28362949	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs28362950	0.82[ASN][1000 genomes]
rs28362951	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2847308	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs34052104	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3824988	1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4827	0.83[AFR][1000 genomes]
rs488769	0.85[CHB][hapmap]
rs4926	1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs499188	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs55649513	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55920079	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576859	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs708228	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7102271	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7116341	0.83[AFR][1000 genomes]
rs7117878	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7117896	0.83[ASN][1000 genomes]
rs7121169	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs71484461	0.83[AFR][1000 genomes]
rs731384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73480556	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7938083	0.83[AFR][1000 genomes]
rs9420	0.85[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription 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 miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57403000-57412200	Weak transcription	Hela-S3	cervix
2	chr11:57407200-57412200	Weak transcription	Ovary	ovary
3	chr11:57407400-57412600	Weak transcription	GM12878-XiMat	blood
4	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:57407600-57412200	Weak transcription	Spleen	Spleen
7	chr11:57407600-57413000	Weak transcription	Right Ventricle	heart
8	chr11:57407600-57413200	Weak transcription	Esophagus	oesophagus
9	chr11:57407800-57412200	Weak transcription	Pancreas	Pancrea
10	chr11:57408000-57412000	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:57408000-57412200	Weak transcription	Lung	lung
12	chr11:57408200-57412000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:57408200-57412000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:57408400-57412200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:57408800-57411800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:57408800-57412000	Weak transcription	Left Ventricle	heart
17	chr11:57408800-57412000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:57408800-57412000	Weak transcription	Right Atrium	heart
19	chr11:57408800-57412200	Weak transcription	Adipose Nuclei	Adipose
20	chr11:57408800-57412200	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:57408800-57412200	Weak transcription	Thymus	Thymus
22	chr11:57408800-57412600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:57408800-57412600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:57408800-57413400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:57409000-57412000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:57409000-57412000	Weak transcription	Brain Angular Gyrus	brain
27	chr11:57409000-57412000	Weak transcription	Brain Anterior Caudate	brain
28	chr11:57409000-57412000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:57409000-57412000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:57409000-57412200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:57409000-57412200	Weak transcription	Brain Substantia Nigra	brain
32	chr11:57409000-57412200	Weak transcription	Fetal Intestine Small	intestine
33	chr11:57409000-57412200	Weak transcription	Fetal Kidney	kidney
34	chr11:57409000-57412200	Weak transcription	A549	lung
35	chr11:57409000-57412200	Weak transcription	HSMMtube	muscle
36	chr11:57409000-57413200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:57409000-57414400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:57409000-57416200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:57409200-57412000	Weak transcription	Fetal Brain Male	brain
40	chr11:57409200-57412200	Weak transcription	Liver	Liver
41	chr11:57409200-57412200	Weak transcription	HepG2	liver
42	chr11:57409200-57412200	Weak transcription	Osteobl	bone
43	chr11:57409200-57413600	Weak transcription	Primary T cells from cord blood	blood
44	chr11:57409400-57411800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr11:57409400-57413000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:57409600-57412000	Weak transcription	Fetal Thymus	thymus
47	chr11:57409600-57412000	Weak transcription	Dnd41	blood
48	chr11:57409600-57412200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:57409600-57412200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:57409600-57412200	Weak transcription	NH-A	brain

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