Variant report

Variant	rs614282
Chromosome Location	chr13:110898870-110898871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs613430	0.89[ASN][1000 genomes]
rs614786	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678661	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679062	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679097	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693831	0.93[ASN][1000 genomes]
rs7337819	0.93[ASN][1000 genomes]
rs7338566	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7338606	0.91[ASN][1000 genomes]
rs9515173	0.93[ASN][1000 genomes]
rs9521665	0.89[ASN][1000 genomes]
rs9521666	0.91[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	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110881400-110899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:110881600-110900600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:110882400-110900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:110882600-110899600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:110882800-110900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:110884200-110902200	Weak transcription	HMEC	breast
8	chr13:110884600-110902400	Weak transcription	NHEK	skin
9	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:110885200-110899000	Weak transcription	Fetal Intestine Large	intestine
11	chr13:110889600-110900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:110889600-110900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:110889600-110904200	Enhancers	NHDF-Ad	bronchial
14	chr13:110890200-110899400	Enhancers	Left Ventricle	heart
15	chr13:110890800-110901800	Enhancers	Fetal Heart	heart
16	chr13:110891400-110908600	Weak transcription	Psoas Muscle	Psoas
17	chr13:110892200-110899000	Weak transcription	Fetal Kidney	kidney
18	chr13:110893200-110899000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:110894000-110899000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:110894400-110900400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:110894600-110912200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:110895200-110903800	Enhancers	Colon Smooth Muscle	Colon
23	chr13:110895400-110899000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr13:110895400-110899000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:110895400-110899200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:110895600-110903800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:110896000-110899800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:110896000-110900600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:110896000-110904400	Enhancers	NHLF	lung
30	chr13:110896200-110904400	Enhancers	Rectal Smooth Muscle	rectum
31	chr13:110896800-110899200	Enhancers	Fetal Muscle Trunk	muscle
32	chr13:110896800-110899400	Enhancers	Right Ventricle	heart
33	chr13:110896800-110899800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:110896800-110902200	Genic enhancers	Osteobl	bone
35	chr13:110896800-110904400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:110897000-110899000	Genic enhancers	NH-A	brain
37	chr13:110897000-110899200	Genic enhancers	Adipose Nuclei	Adipose
38	chr13:110897400-110899800	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:110897400-110900800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr13:110897400-110901000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:110897600-110899000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:110897600-110899000	Weak transcription	Colonic Mucosa	Colon
43	chr13:110897600-110899000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr13:110897600-110899000	Weak transcription	Small Intestine	intestine
45	chr13:110897600-110900400	Enhancers	Stomach Smooth Muscle	stomach
46	chr13:110897800-110899000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:110897800-110900000	Enhancers	Fetal Muscle Leg	muscle
48	chr13:110897800-110900800	Enhancers	HSMM	muscle
49	chr13:110897800-110914200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr13:110897800-110914800	Weak transcription	Stomach Mucosa	stomach

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