Variant report

Variant	rs930543
Chromosome Location	chr9:13749977-13749978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1011531	0.81[ASN][1000 genomes]
rs10738341	0.81[ASN][1000 genomes]
rs10810015	0.81[ASN][1000 genomes]
rs10810020	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10961216	0.81[ASN][1000 genomes]
rs10961237	0.85[AFR][1000 genomes]
rs1327510	0.83[ASN][1000 genomes]
rs1327517	0.92[AFR][1000 genomes]
rs17805200	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17805206	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1887456	0.92[AFR][1000 genomes]
rs4514742	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018933	chr9:13669862-13756710	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv892590	chr9:13689066-13777299	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1022001	chr9:13717736-13983738	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1032702	chr9:13723812-13760986	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13744800-13750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:13744800-13750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:13745000-13750000	Weak transcription	Fetal Brain Female	brain
4	chr9:13745200-13750200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:13749600-13750200	Enhancers	Fetal Brain Male	brain
6	chr9:13749600-13750800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:13749600-13750800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:13749600-13751000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:13749600-13751000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:13749600-13751000	Enhancers	Osteobl	bone
11	chr9:13749600-13751200	Enhancers	HMEC	breast
12	chr9:13749600-13751200	Enhancers	NH-A	brain
13	chr9:13749600-13751200	Enhancers	NHEK	skin
14	chr9:13749600-13751400	Enhancers	HUVEC	blood vessel
15	chr9:13749800-13751000	Enhancers	HSMM	muscle
16	chr9:13749800-13751000	Enhancers	NHLF	lung
17	chr9:13749800-13751200	Enhancers	HSMMtube	muscle

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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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