Variant report

Variant	rs2133261
Chromosome Location	chr11:5722100-5722101
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5033143-5038367..11:5721056-5732713	GM12878	blood:
2	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
3	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
4	11:5087036-5092291..11:5721056-5732713	K562	blood:
5	11:5488942-5494633..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
6	11:5586716-5591774..11:5721056-5732713	GM12878	blood:
7	chr11:5721533..5723837-chr11:5757099..5760021,2	K562	blood:
8	chr11:5700598..5702290-chr11:5720300..5722601,2	K562	blood:

Variant related genes	Relation type
ENSG00000132256	Chromatin interaction
ENSG00000224300	Chromatin interaction
ENSG00000233646	Chromatin interaction
ENSG00000181023	Chromatin interaction
ENSG00000227023	Chromatin interaction
ENSG00000225003	Chromatin interaction
ENSG00000230484	Chromatin interaction
ENSG00000273085	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10769182	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769184	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769185	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10838553	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10838554	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10838556	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11038759	0.84[AMR][1000 genomes]
rs11038760	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2133260	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2133262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4360724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4369439	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910838	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7927644	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv896949	chr11:5711177-5722444	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv553274	chr11:5719835-5722381	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv988030	chr11:5721491-5722940	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	esv9769	chr11:5721491-5723152	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv553275	chr11:5721770-5722801	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	nsv553276	chr11:5722001-5722801	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5712000-5723000	Weak transcription	Fetal Stomach	stomach
2	chr11:5712200-5723600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:5712200-5725200	Weak transcription	Fetal Heart	heart
4	chr11:5712400-5723000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:5712400-5723000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:5712400-5730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:5712400-5730600	Weak transcription	Fetal Lung	lung
8	chr11:5712400-5731800	Weak transcription	NH-A	brain
9	chr11:5712400-5732400	Weak transcription	Pancreas	Pancrea
10	chr11:5712400-5732400	Weak transcription	Stomach Mucosa	stomach
11	chr11:5712600-5723800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:5712600-5729200	Weak transcription	Esophagus	oesophagus
13	chr11:5712600-5730200	Weak transcription	NHEK	skin
14	chr11:5712600-5732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:5712600-5732600	Weak transcription	Colonic Mucosa	Colon
16	chr11:5713000-5723000	Weak transcription	Right Ventricle	heart
17	chr11:5713000-5726000	Weak transcription	Left Ventricle	heart
18	chr11:5713000-5734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:5713600-5730800	Weak transcription	Brain Anterior Caudate	brain
20	chr11:5713600-5734800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:5713600-5745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:5713800-5729800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:5713800-5731200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:5714000-5732600	Weak transcription	Brain Substantia Nigra	brain
25	chr11:5715200-5733000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:5715800-5729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:5716200-5724200	Strong transcription	Osteobl	bone
28	chr11:5717400-5722800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:5717400-5726200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:5717400-5732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:5717400-5734400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:5717600-5722400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:5717600-5731200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr11:5717600-5732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:5718000-5728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:5718000-5734600	Weak transcription	HUVEC	blood vessel
37	chr11:5718400-5729000	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:5718800-5722600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:5720000-5722600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:5720000-5722600	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:5720000-5727000	Weak transcription	Ovary	ovary
42	chr11:5720000-5727600	Weak transcription	HSMMtube	muscle
43	chr11:5720000-5729200	Weak transcription	Aorta	Aorta
44	chr11:5720000-5729200	Weak transcription	Gastric	stomach
45	chr11:5720000-5729200	Weak transcription	Spleen	Spleen
46	chr11:5720000-5732600	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:5720200-5722800	Weak transcription	Thymus	Thymus
48	chr11:5720200-5723800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:5720200-5724000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:5720200-5724200	Weak transcription	Liver	Liver

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