Variant report

Variant	rs601496
Chromosome Location	chr11:100762986-100762987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11224538	0.92[CEU][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1217265	0.83[AFR][1000 genomes]
rs12364126	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1944432	0.85[GIH][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap]
rs576278	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs585288	0.81[AFR][1000 genomes]
rs595151	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs623600	0.82[AFR][1000 genomes]
rs644635	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6590829	0.85[GIH][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap]
rs662870	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7933033	0.83[GIH][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap]
rs7939762	0.84[MEX][hapmap]
rs7939782	0.85[MEX][hapmap]
rs7950832	0.85[MEX][hapmap]

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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs601496	DYNC2H1	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100755000-100766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:100758600-100773400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:100758800-100789400	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:100760800-100763800	Enhancers	NHDF-Ad	bronchial
8	chr11:100761000-100773400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:100761200-100764000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:100761600-100777400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:100761600-100788800	Weak transcription	Fetal Heart	heart
12	chr11:100761800-100773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:100762000-100763000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:100762000-100763000	Enhancers	Osteobl	bone
15	chr11:100762200-100763400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:100762800-100763600	Weak transcription	HSMM	muscle
17	chr11:100762800-100779000	Weak transcription	NH-A	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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