Variant report

Variant	rs1049272
Chromosome Location	chr11:57174630-57174631
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC43A3-1	chr11:57174427-57176222	NONHSAT021411

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1049273	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10792094	0.84[EUR][1000 genomes]
rs10896614	0.84[EUR][1000 genomes]
rs10896615	0.84[EUR][1000 genomes]
rs11606592	0.84[EUR][1000 genomes]
rs3741085	0.84[EUR][1000 genomes]
rs7106575	0.84[EUR][1000 genomes]
rs7121288	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57167400-57188200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57168000-57176600	Weak transcription	Fetal Intestine Large	intestine
3	chr11:57168400-57174800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:57170200-57174800	Weak transcription	Pancreas	Pancrea
5	chr11:57170200-57191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:57170400-57174800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:57170400-57175000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:57170400-57176200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:57171000-57174800	Weak transcription	Osteobl	bone
10	chr11:57171000-57184800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:57171200-57175000	Weak transcription	Ovary	ovary
12	chr11:57171200-57175200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:57171600-57174800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:57171800-57177200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:57172000-57175000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:57172000-57185000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:57172200-57174800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:57172200-57174800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:57172400-57174800	Enhancers	NHDF-Ad	bronchial
20	chr11:57172400-57175200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:57172600-57174800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:57172600-57178000	Strong transcription	Primary T cells from cord blood	blood
23	chr11:57172600-57178000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:57172600-57178200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:57172600-57178200	Genic enhancers	GM12878-XiMat	blood
26	chr11:57172600-57180000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:57172600-57189800	Strong transcription	Dnd41	blood
28	chr11:57172800-57174800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:57172800-57174800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:57172800-57175000	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr11:57172800-57175000	Enhancers	HUVEC	blood vessel
32	chr11:57172800-57175000	Genic enhancers	NHEK	skin
33	chr11:57172800-57175200	Enhancers	A549	lung
34	chr11:57172800-57175400	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:57172800-57175400	Genic enhancers	Fetal Muscle Leg	muscle
36	chr11:57172800-57178400	Strong transcription	Thymus	Thymus
37	chr11:57172800-57179200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:57172800-57185000	Weak transcription	NH-A	brain
39	chr11:57173000-57175000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:57173000-57175000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:57173000-57175000	Enhancers	Right Atrium	heart
42	chr11:57173000-57175000	Genic enhancers	K562	blood
43	chr11:57173000-57175400	Genic enhancers	Spleen	Spleen
44	chr11:57173000-57177400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:57173000-57178200	Strong transcription	Aorta	Aorta
46	chr11:57173000-57179200	Strong transcription	Fetal Stomach	stomach
47	chr11:57173000-57192800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:57173200-57175600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:57173200-57175600	Genic enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:57173200-57176200	Weak transcription	Brain Hippocampus Middle	brain

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