Variant report

Variant	rs56116457
Chromosome Location	chr13:110888831-110888832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11842085	0.85[EUR][1000 genomes]
rs11843610	0.85[EUR][1000 genomes]
rs34808582	0.87[EUR][1000 genomes]
rs41275106	0.87[EUR][1000 genomes]
rs475520	0.86[EUR][1000 genomes]
rs536195	0.86[EUR][1000 genomes]
rs55698841	0.85[EUR][1000 genomes]
rs56152426	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs604733	0.85[EUR][1000 genomes]
rs61963293	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61963294	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61963295	0.86[EUR][1000 genomes]
rs61963301	0.87[EUR][1000 genomes]
rs61963304	0.85[EUR][1000 genomes]
rs61963305	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61963306	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61963307	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6492249	0.86[EUR][1000 genomes]
rs6492250	0.86[EUR][1000 genomes]
rs6492251	0.86[EUR][1000 genomes]
rs656034	0.96[EUR][1000 genomes]
rs679248	0.96[EUR][1000 genomes]
rs68079483	0.85[EUR][1000 genomes]
rs7318128	0.85[EUR][1000 genomes]
rs7318692	0.85[EUR][1000 genomes]
rs7319995	0.85[EUR][1000 genomes]
rs7320618	0.85[EUR][1000 genomes]
rs7331362	0.86[EUR][1000 genomes]
rs7332643	0.85[EUR][1000 genomes]
rs7332644	0.85[EUR][1000 genomes]
rs7988985	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7989246	0.86[EUR][1000 genomes]
rs7989549	0.86[EUR][1000 genomes]
rs7995509	0.86[EUR][1000 genomes]
rs7995601	0.84[EUR][1000 genomes]
rs7995873	0.84[EUR][1000 genomes]
rs7996908	0.85[EUR][1000 genomes]
rs7999378	0.85[EUR][1000 genomes]
rs7999607	0.85[EUR][1000 genomes]
rs7999790	0.85[EUR][1000 genomes]
rs9588121	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110869000-110898800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr13:110879000-110889200	Weak transcription	Fetal Intestine Small	intestine
3	chr13:110879600-110890000	Weak transcription	Fetal Kidney	kidney
4	chr13:110881400-110894800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:110881400-110899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:110881600-110900600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:110882400-110900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:110882600-110898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:110882600-110899600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr13:110882800-110900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:110883200-110895000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:110884200-110902200	Weak transcription	HMEC	breast
14	chr13:110884400-110890200	Weak transcription	Pancreas	Pancrea
15	chr13:110884600-110902400	Weak transcription	NHEK	skin
16	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:110885200-110899000	Weak transcription	Fetal Intestine Large	intestine
18	chr13:110885400-110889000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:110885400-110889000	Weak transcription	Esophagus	oesophagus
20	chr13:110885800-110891000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:110886000-110890000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr13:110886400-110889800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:110886400-110890600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr13:110886400-110891200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:110886600-110889000	Weak transcription	Fetal Lung	lung
26	chr13:110886600-110889200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:110886600-110889400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:110886600-110896000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:110887200-110889000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:110887200-110889000	Weak transcription	Aorta	Aorta
31	chr13:110887200-110889400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:110887200-110889600	Weak transcription	NHDF-Ad	bronchial
33	chr13:110887800-110890000	Strong transcription	HUVEC	blood vessel
34	chr13:110888400-110889400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:110888400-110889400	Strong transcription	NH-A	brain
36	chr13:110888400-110889600	Genic enhancers	Placenta	Placenta
37	chr13:110888400-110892400	Enhancers	Colon Smooth Muscle	Colon
38	chr13:110888400-110896800	Strong transcription	Osteobl	bone
39	chr13:110888600-110889200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:110888600-110890400	Enhancers	Fetal Heart	heart
41	chr13:110888600-110891000	Genic enhancers	NHLF	lung
42	chr13:110888800-110889000	Enhancers	Left Ventricle	heart
43	chr13:110888800-110889200	Strong transcription	HSMMtube	muscle
44	chr13:110888800-110889400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:110888800-110889400	Genic enhancers	Right Ventricle	heart
46	chr13:110888800-110889400	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr13:110888800-110889600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:110888800-110889600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:110888800-110889600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:110888800-110889600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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