Variant report

Variant	rs6671408
Chromosome Location	chr1:95697091-95697092
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	chr1:95539210..95541346-chr1:95694929..95697807,2	K562	blood:
2	chr1:95692200..95694828-chr1:95697086..95699091,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10874906	0.80[ASN][1000 genomes]
rs10874908	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165318	0.81[ASN][1000 genomes]
rs11165319	0.81[ASN][1000 genomes]
rs11165333	0.82[ASN][1000 genomes]
rs11165343	0.94[ASN][1000 genomes]
rs11165346	0.99[ASN][1000 genomes]
rs11165349	1.00[ASN][1000 genomes]
rs12034397	0.99[ASN][1000 genomes]
rs12036706	0.81[ASN][1000 genomes]
rs12037572	0.93[ASN][1000 genomes]
rs12048133	0.82[ASN][1000 genomes]
rs12085822	0.81[ASN][1000 genomes]
rs12401359	1.00[ASN][1000 genomes]
rs12407571	0.81[ASN][1000 genomes]
rs12408858	0.95[ASN][1000 genomes]
rs1927043	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2147587	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2148797	0.81[ASN][1000 genomes]
rs2296308	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs259340	0.98[ASN][1000 genomes]
rs259341	0.98[ASN][1000 genomes]
rs259348	0.98[ASN][1000 genomes]
rs259351	0.99[ASN][1000 genomes]
rs259353	0.99[ASN][1000 genomes]
rs259356	0.99[ASN][1000 genomes]
rs3738170	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3738171	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753872	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767313	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3767315	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3820345	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4950024	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547339	1.00[ASN][1000 genomes]
rs564610	0.98[ASN][1000 genomes]
rs592097	0.99[ASN][1000 genomes]
rs61771764	0.92[ASN][1000 genomes]
rs61771765	0.94[ASN][1000 genomes]
rs61771766	0.94[ASN][1000 genomes]
rs658018	0.99[ASN][1000 genomes]
rs6666528	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs688633	0.98[ASN][1000 genomes]
rs7528790	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6671408	RWDD3	cis	Muscle Skeletal	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95670600-95698200	Weak transcription	Aorta	Aorta
2	chr1:95682600-95698000	Weak transcription	Fetal Intestine Large	intestine
3	chr1:95688800-95698800	Weak transcription	Psoas Muscle	Psoas
4	chr1:95689200-95698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:95689400-95698200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:95692400-95698200	Weak transcription	A549	lung
7	chr1:95693000-95698200	Weak transcription	Fetal Heart	heart
8	chr1:95693200-95698000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:95693200-95698200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:95693400-95698200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:95693400-95698400	Weak transcription	HMEC	breast
12	chr1:95693600-95699000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:95694000-95698400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:95695000-95698000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:95695000-95698200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:95695000-95698200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:95695000-95698200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:95695000-95698200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:95695600-95697600	Enhancers	Liver	Liver
20	chr1:95695600-95697600	Enhancers	HepG2	liver
21	chr1:95696200-95698200	Weak transcription	Ovary	ovary
22	chr1:95696400-95698200	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:95696600-95697200	Active TSS	Right Atrium	heart
24	chr1:95696600-95698200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:95696600-95698200	Enhancers	Brain Anterior Caudate	brain
26	chr1:95696600-95698800	Weak transcription	Left Ventricle	heart
27	chr1:95696600-95698800	Weak transcription	Pancreas	Pancrea
28	chr1:95696800-95698200	Weak transcription	Brain Angular Gyrus	brain
29	chr1:95696800-95698200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:95697000-95698200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:95697000-95698200	Enhancers	Fetal Lung	lung
32	chr1:95697000-95698400	Weak transcription	Brain Substantia Nigra	brain

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