Variant report

Variant	rs478280
Chromosome Location	chr11:74613477-74613478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs557037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs658623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs662035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs693275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74587400-74629600	Weak transcription	Gastric	stomach
2	chr11:74588400-74630600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:74588400-74636000	Weak transcription	NHLF	lung
4	chr11:74594800-74646600	Weak transcription	Small Intestine	intestine
5	chr11:74596800-74619000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:74598200-74615200	Weak transcription	Osteobl	bone
7	chr11:74598400-74629600	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:74599200-74619400	Weak transcription	Colonic Mucosa	Colon
9	chr11:74603200-74617800	Weak transcription	K562	blood
10	chr11:74603800-74616600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:74606600-74626400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:74606800-74616200	Weak transcription	NHEK	skin
13	chr11:74607200-74618000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:74607400-74617200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:74607600-74616400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:74607600-74616600	Weak transcription	Placenta	Placenta
17	chr11:74607600-74617200	Weak transcription	Thymus	Thymus
18	chr11:74607600-74618200	Weak transcription	Hela-S3	cervix
19	chr11:74607600-74637400	Weak transcription	Pancreas	Pancrea
20	chr11:74607800-74616200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:74607800-74616200	Weak transcription	Aorta	Aorta
22	chr11:74607800-74616400	Weak transcription	Primary T cells from cord blood	blood
23	chr11:74607800-74616400	Weak transcription	Left Ventricle	heart
24	chr11:74607800-74616400	Weak transcription	Lung	lung
25	chr11:74607800-74616600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:74607800-74618000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:74607800-74618000	Weak transcription	Ovary	ovary
28	chr11:74607800-74620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:74608000-74616600	Weak transcription	HepG2	liver
30	chr11:74608000-74618000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:74611000-74613800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr11:74611600-74613600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
33	chr11:74611600-74614400	Weak transcription	Fetal Intestine Small	intestine
34	chr11:74611600-74615800	Weak transcription	HUVEC	blood vessel
35	chr11:74611600-74616000	Weak transcription	Fetal Stomach	stomach
36	chr11:74611800-74613800	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr11:74611800-74614400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:74612200-74613800	ZNF genes & repeats	Fetal Lung	lung
39	chr11:74612200-74615600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:74612200-74616400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:74612200-74620600	Weak transcription	HSMM	muscle
42	chr11:74612400-74629600	Weak transcription	NHDF-Ad	bronchial
43	chr11:74612600-74613600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr11:74612600-74613800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr11:74612600-74617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:74612800-74613600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:74612800-74613600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:74612800-74613800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:74612800-74615600	Weak transcription	Dnd41	blood
50	chr11:74612800-74616000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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