Variant report

Variant	rs11840839
Chromosome Location	chr13:110975507-110975508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11841291	0.84[YRI][hapmap];0.85[AMR][1000 genomes]
rs11843709	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126233	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126234	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9515190	0.90[AFR][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	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
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110962000-110978600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:110962600-110989200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr13:110964400-110975600	Weak transcription	Colonic Mucosa	Colon
4	chr13:110965200-110976000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:110966600-110976000	Weak transcription	Brain Anterior Caudate	brain
6	chr13:110966800-110979400	Weak transcription	Fetal Brain Male	brain
7	chr13:110969600-110979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:110969800-110975600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:110969800-110975600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:110969800-110980200	Enhancers	Rectal Smooth Muscle	rectum
11	chr13:110969800-110983200	Enhancers	Fetal Heart	heart
12	chr13:110970200-110978800	Weak transcription	Fetal Intestine Large	intestine
13	chr13:110970400-110976000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:110971800-110976800	Enhancers	NHDF-Ad	bronchial
15	chr13:110972200-110976000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:110972400-110976200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:110972600-110975800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:110972600-110976000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:110972600-110976600	Enhancers	Adipose Nuclei	Adipose
20	chr13:110972600-110978800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr13:110972600-110978800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr13:110972600-110979200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr13:110972600-111007200	Weak transcription	Gastric	stomach
24	chr13:110972800-110975600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr13:110972800-110976800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:110972800-110995000	Weak transcription	Esophagus	oesophagus
27	chr13:110973000-110975600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:110973000-110976000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:110973000-110977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:110973000-110978400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:110973000-110978600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr13:110973200-110976000	Enhancers	HUVEC	blood vessel
33	chr13:110973400-110975800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:110973600-110975600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:110973800-110977000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:110973800-110977200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr13:110973800-110979800	Enhancers	Right Ventricle	heart
38	chr13:110973800-110982000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:110974000-110975800	Weak transcription	HMEC	breast
40	chr13:110974000-110977200	Weak transcription	Fetal Kidney	kidney
41	chr13:110974000-110978800	Weak transcription	NHEK	skin
42	chr13:110974000-110993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:110974200-110976600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:110974200-110977200	Enhancers	Aorta	Aorta
45	chr13:110974200-110978000	Genic enhancers	Fetal Muscle Leg	muscle
46	chr13:110974200-110979800	Enhancers	Left Ventricle	heart
47	chr13:110974400-110976200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:110974400-110976200	Enhancers	A549	lung
49	chr13:110974400-110976200	Enhancers	Osteobl	bone
50	chr13:110974400-110977000	Genic enhancers	Placenta	Placenta

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