Variant report

Variant	rs501153
Chromosome Location	chr11:77426095-77426096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11237265	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11820337	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12225188	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12418335	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1793340	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2186562	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4145700	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs529181	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs567814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs616354	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs618535	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs634477	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs648842	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs650636	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs665363	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs681411	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs687615	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7111625	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7121559	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7924567	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7932547	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7941302	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7949468	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
2	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
6	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77389800-77435400	Weak transcription	Psoas Muscle	Psoas
2	chr11:77391600-77442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:77394600-77435600	Weak transcription	Gastric	stomach
4	chr11:77394600-77441800	Weak transcription	Spleen	Spleen
5	chr11:77394600-77445600	Weak transcription	Esophagus	oesophagus
6	chr11:77394600-77458800	Weak transcription	Small Intestine	intestine
7	chr11:77394800-77462600	Weak transcription	Fetal Heart	heart
8	chr11:77402600-77435800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:77403200-77442200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:77404600-77441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:77406400-77434600	Weak transcription	Fetal Brain Female	brain
12	chr11:77406800-77428000	Weak transcription	Ovary	ovary
13	chr11:77407200-77448000	Weak transcription	K562	blood
14	chr11:77408400-77434200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:77409400-77441600	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:77409600-77428000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:77409600-77432600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:77409600-77435200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:77409600-77435400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:77409600-77435600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:77409600-77441800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:77409600-77453400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:77409600-77458800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:77409600-77478200	Weak transcription	Brain Angular Gyrus	brain
25	chr11:77409800-77428000	Weak transcription	Placenta	Placenta
26	chr11:77409800-77428000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:77409800-77430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:77409800-77432200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:77409800-77434200	Weak transcription	NHLF	lung
30	chr11:77409800-77434600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:77409800-77435400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:77409800-77435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:77409800-77435600	Weak transcription	Colonic Mucosa	Colon
34	chr11:77409800-77441600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:77409800-77441600	Weak transcription	Aorta	Aorta
36	chr11:77409800-77441800	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:77410400-77477600	Weak transcription	Brain Substantia Nigra	brain
38	chr11:77410800-77435200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:77411000-77433800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:77412400-77435200	Weak transcription	Brain Germinal Matrix	brain
41	chr11:77412600-77432600	Weak transcription	Adipose Nuclei	Adipose
42	chr11:77412800-77427600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:77412800-77441800	Weak transcription	Fetal Brain Male	brain
44	chr11:77413000-77428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:77413200-77426800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:77413200-77432400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:77413400-77428000	Weak transcription	Fetal Intestine Large	intestine
48	chr11:77413400-77428000	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:77413400-77428200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:77413400-77428600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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