Variant report

Variant	rs561948
Chromosome Location	chr11:65997898-65997899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10750773	0.83[AMR][1000 genomes]
rs10791844	1.00[AMR][1000 genomes]
rs11227418	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227421	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823726	0.84[AFR][1000 genomes]
rs12290898	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13328870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1627404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17147342	0.89[ASW][hapmap];0.95[LWK][hapmap]
rs34725821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs495684	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501690	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501979	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541268	0.97[AFR][1000 genomes]
rs548858	0.89[ASW][hapmap];0.89[LWK][hapmap];0.83[AMR][1000 genomes]
rs558480	0.89[LWK][hapmap];0.83[AMR][1000 genomes]
rs6591206	0.97[AFR][1000 genomes]
rs7131001	0.83[AMR][1000 genomes]
rs7937763	0.83[AMR][1000 genomes]
rs9326366	0.83[AMR][1000 genomes]
rs9326367	0.83[AMR][1000 genomes]
rs9326368	1.00[AMR][1000 genomes]
rs9326369	1.00[AMR][1000 genomes]
rs9667583	0.83[AMR][1000 genomes]
rs9667922	0.83[AMR][1000 genomes]
rs9737415	0.89[ASW][hapmap];0.80[LWK][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65961400-66011200	Weak transcription	Psoas Muscle	Psoas
2	chr11:65976600-66006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65977400-66010600	Strong transcription	Fetal Stomach	stomach
4	chr11:65977600-66018600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:65979800-66001200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:65984600-66024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:65984800-66000400	Weak transcription	HMEC	breast
8	chr11:65985200-65998800	Weak transcription	NHDF-Ad	bronchial
9	chr11:65985800-66017800	Weak transcription	Fetal Heart	heart
10	chr11:65987800-66003400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:65988200-66001200	Weak transcription	Small Intestine	intestine
12	chr11:65988800-65998400	Weak transcription	Brain Substantia Nigra	brain
13	chr11:65988800-65998800	Weak transcription	Colonic Mucosa	Colon
14	chr11:65989600-66024200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:65990000-66002600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:65990200-65998600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:65990200-65999200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:65990200-65999200	Weak transcription	Stomach Mucosa	stomach
19	chr11:65990200-66003000	Weak transcription	HepG2	liver
20	chr11:65990200-66007600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:65990200-66019800	Strong transcription	Primary T cells from cord blood	blood
22	chr11:65990400-66009200	Weak transcription	K562	blood
23	chr11:65990600-65998000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:65990600-66003000	Weak transcription	Fetal Kidney	kidney
25	chr11:65990600-66015800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:65990600-66018400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:65990800-66008600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:65990800-66009200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:65990800-66018600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:65991000-66000000	Weak transcription	Dnd41	blood
31	chr11:65991000-66000600	Strong transcription	Adipose Nuclei	Adipose
32	chr11:65991000-66015400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:65991200-65998800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:65991200-66012400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:65991200-66018600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:65991200-66018600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:65991600-66008200	Strong transcription	Primary B cells from cord blood	blood
38	chr11:65991600-66012800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr11:65991600-66018400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:65991600-66018400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:65991800-65998800	Strong transcription	Fetal Thymus	thymus
42	chr11:65991800-66004000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:65991800-66005400	Strong transcription	Thymus	Thymus
44	chr11:65991800-66018400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:65992800-65998000	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:65992800-66009600	Weak transcription	HUVEC	blood vessel
47	chr11:65993800-66004000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr11:65993800-66018400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:65994400-66015200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:65994400-66018600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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