Variant report

Variant	rs16904259
Chromosome Location	chr8:131391018-131391019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131389274..131391733-chr8:131394975..131397039,2	K562	blood:
2	chr8:131390766..131391395-chr9:126017796..126018481,2	Hela-S3	cervix:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10091450	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs10100892	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs10103280	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956512	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs11778323	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11786359	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1426101	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs16904262	1.00[YRI][hapmap]
rs2554369	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap]
rs2554372	0.82[CHB][hapmap]
rs2670885	0.91[CEU][hapmap];0.93[CHB][hapmap]
rs2670888	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2670890	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs2791338	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2791342	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap]
rs2791350	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs2943086	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes]
rs35977498	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4733575	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6415510	0.87[CEU][hapmap]
rs72724494	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72726224	0.82[EUR][1000 genomes]
rs73713907	0.80[EUR][1000 genomes]
rs7816836	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9297805	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap]

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16904259	GSDMC	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
2	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
3	chr8:131371800-131396400	Weak transcription	HepG2	liver
4	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
5	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
6	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:131382600-131398800	Weak transcription	Lung	lung
9	chr8:131383200-131392000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:131383200-131396600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:131383200-131397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:131383800-131393200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
14	chr8:131384000-131400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:131384600-131397000	Weak transcription	Ovary	ovary
16	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
17	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
18	chr8:131385000-131392000	Weak transcription	Esophagus	oesophagus
19	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
20	chr8:131387000-131398000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:131388400-131392000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:131388600-131391800	Weak transcription	HSMMtube	muscle
23	chr8:131388600-131392000	Weak transcription	Osteobl	bone
24	chr8:131388600-131392200	Weak transcription	Hela-S3	cervix
25	chr8:131388600-131392600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:131388600-131393400	Weak transcription	NH-A	brain
27	chr8:131388600-131396000	Weak transcription	Right Ventricle	heart
28	chr8:131388600-131396200	Weak transcription	HMEC	breast
29	chr8:131388600-131397000	Weak transcription	NHDF-Ad	bronchial
30	chr8:131388600-131398600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:131388600-131398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:131388600-131400200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:131388600-131407200	Weak transcription	HSMM	muscle
34	chr8:131388800-131391200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:131388800-131392200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:131388800-131400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:131388800-131400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:131388800-131400800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
41	chr8:131389600-131392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:131389600-131393000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:131389600-131393200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:131389600-131399200	Strong transcription	NHEK	skin
45	chr8:131389800-131396000	Strong transcription	Fetal Stomach	stomach
46	chr8:131390000-131393000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:131390000-131393000	Strong transcription	NHLF	lung
48	chr8:131390000-131400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:131390200-131392000	Strong transcription	Placenta	Placenta
50	chr8:131390200-131395200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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