Variant report

Variant	rs6492250
Chromosome Location	chr13:110891822-110891823
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11842085	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11843610	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34808582	0.81[EUR][1000 genomes]
rs41275104	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275106	0.81[EUR][1000 genomes]
rs475520	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536195	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55698841	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56066148	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56081954	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116457	0.86[EUR][1000 genomes]
rs56152426	0.81[EUR][1000 genomes]
rs56366911	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604733	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963293	0.88[EUR][1000 genomes]
rs61963294	0.90[EUR][1000 genomes]
rs61963295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963301	0.81[EUR][1000 genomes]
rs6492249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656034	0.88[EUR][1000 genomes]
rs679248	0.88[EUR][1000 genomes]
rs68079483	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7318128	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7318692	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7319995	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7320618	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7331362	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988985	0.90[EUR][1000 genomes]
rs7989246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995601	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995873	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996908	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999378	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7999607	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7999790	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9583474	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9588121	0.85[EUR][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	chr13:110881400-110894800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:110881400-110899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:110881600-110900600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:110882400-110900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:110882600-110898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:110882600-110899600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:110882800-110900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:110883200-110895000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:110884200-110902200	Weak transcription	HMEC	breast
12	chr13:110884600-110902400	Weak transcription	NHEK	skin
13	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:110885200-110899000	Weak transcription	Fetal Intestine Large	intestine
15	chr13:110886600-110896000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:110888400-110892400	Enhancers	Colon Smooth Muscle	Colon
17	chr13:110888400-110896800	Strong transcription	Osteobl	bone
18	chr13:110888800-110892000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:110888800-110892200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:110888800-110892400	Enhancers	Rectal Smooth Muscle	rectum
21	chr13:110888800-110893000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:110888800-110893800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr13:110888800-110894600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:110889000-110892200	Enhancers	Fetal Lung	lung
25	chr13:110889400-110893800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:110889400-110893800	Enhancers	Right Ventricle	heart
27	chr13:110889600-110892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:110889600-110892600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:110889600-110892600	Weak transcription	Ovary	ovary
30	chr13:110889600-110892800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:110889600-110900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:110889600-110900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:110889600-110904200	Enhancers	NHDF-Ad	bronchial
34	chr13:110889800-110892000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:110889800-110892600	Weak transcription	Lung	lung
36	chr13:110889800-110892600	Weak transcription	Spleen	Spleen
37	chr13:110889800-110892800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:110889800-110896800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:110890000-110892200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr13:110890000-110892200	Enhancers	Fetal Kidney	kidney
41	chr13:110890000-110892400	Enhancers	Fetal Stomach	stomach
42	chr13:110890000-110897000	Strong transcription	NH-A	brain
43	chr13:110890200-110892400	Enhancers	Stomach Smooth Muscle	stomach
44	chr13:110890200-110892600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:110890200-110893600	Weak transcription	HSMMtube	muscle
46	chr13:110890200-110899400	Enhancers	Left Ventricle	heart
47	chr13:110890400-110892200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr13:110890600-110892000	Enhancers	HUVEC	blood vessel
49	chr13:110890600-110893000	Enhancers	Adipose Nuclei	Adipose
50	chr13:110890800-110892000	Weak transcription	Right Atrium	heart

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