Variant report

Variant	rs11838927
Chromosome Location	chr13:49897778-49897779
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	chr13:49897387..49900152-chr13:49901230..49903908,2	K562	blood:
2	chr13:49895624..49898255-chr13:49912286..49914508,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10459376	0.80[EUR][1000 genomes]
rs11619804	0.93[ASN][1000 genomes]
rs11843587	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12585196	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1555672	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2038759	0.80[EUR][1000 genomes]
rs2147398	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2181905	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2407521	0.86[ASN][1000 genomes]
rs2407609	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4245351	0.83[EUR][1000 genomes]
rs4941637	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942815	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7326181	0.85[EUR][1000 genomes]
rs7328063	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7330892	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7988621	0.80[EUR][1000 genomes]
rs7997545	0.80[EUR][1000 genomes]
rs7999710	0.80[EUR][1000 genomes]
rs9316437	0.80[EUR][1000 genomes]
rs9316439	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9535190	0.80[EUR][1000 genomes]
rs9535193	0.81[EUR][1000 genomes]
rs9535194	0.83[EUR][1000 genomes]
rs9535197	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535198	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535199	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535200	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568177	0.80[EUR][1000 genomes]
rs9568181	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568182	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9591249	0.86[ASN][1000 genomes]
rs9596077	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9596078	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9596079	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596080	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9596082	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49881800-49906800	Weak transcription	Fetal Brain Male	brain
3	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:49884800-49903800	Weak transcription	Fetal Brain Female	brain
5	chr13:49884800-49914200	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:49884800-49925600	Weak transcription	Brain Substantia Nigra	brain
7	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
8	chr13:49885800-49926000	Weak transcription	Brain Germinal Matrix	brain
9	chr13:49888400-49903800	Weak transcription	Right Ventricle	heart
10	chr13:49888400-49904000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:49888400-49922200	Weak transcription	Gastric	stomach
12	chr13:49888600-49905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:49888600-49922200	Weak transcription	Lung	lung
14	chr13:49888800-49903600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:49888800-49905400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:49888800-49908800	Weak transcription	Fetal Intestine Large	intestine
17	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
18	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:49889200-49900000	Weak transcription	Colonic Mucosa	Colon
20	chr13:49889200-49919400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr13:49889200-49933400	Weak transcription	Brain Anterior Caudate	brain
22	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:49889600-49900200	Weak transcription	Right Atrium	heart
24	chr13:49889600-49914200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:49889600-49914400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr13:49889600-49914400	Weak transcription	Small Intestine	intestine
27	chr13:49889600-49927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:49891800-49922000	Weak transcription	Left Ventricle	heart
29	chr13:49894400-49905200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:49894600-49910400	Weak transcription	Adipose Nuclei	Adipose
31	chr13:49894800-49904000	Weak transcription	HSMMtube	muscle
32	chr13:49895000-49916400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:49895000-49927600	Weak transcription	NHLF	lung
34	chr13:49895200-49910800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr13:49895200-49914200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:49895400-49898200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr13:49895600-49918000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:49895600-49933200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr13:49895800-49899600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:49895800-49901600	Weak transcription	Ovary	ovary
41	chr13:49895800-49935600	Weak transcription	Esophagus	oesophagus
42	chr13:49896200-49898000	Enhancers	Fetal Heart	heart
43	chr13:49896800-49898200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:49897000-49897800	Strong transcription	Colon Smooth Muscle	Colon
45	chr13:49897000-49897800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr13:49897200-49897800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:49897200-49898200	Strong transcription	Fetal Stomach	stomach
48	chr13:49897600-49904000	Weak transcription	Aorta	Aorta
49	chr13:49897600-49905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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