Variant report

Variant	rs4076012
Chromosome Location	chr9:108730789-108730790
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:41465705..41467813-chr9:108728033..108731013,2	K562	blood:
2	chr17:41399145..41400709-chr9:108729513..108731033,2	K562	blood:
3	chr9:108730359..108732528-chr9:108735716..108738516,2	MCF-7	breast:
4	chr9:108726337..108728074-chr9:108728541..108730977,2	MCF-7	breast:
5	chr17:41399209..41401888-chr9:108729513..108731033,2	K562	blood:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10733558	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10759156	0.99[ASN][1000 genomes]
rs10816354	0.83[ASN][1000 genomes]
rs10816356	0.87[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs10978361	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10978362	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1984676	0.83[ASN][1000 genomes]
rs2417677	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2417678	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2900407	0.91[ASN][1000 genomes]
rs4609252	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4742659	0.84[ASN][1000 genomes]
rs55721325	0.92[ASN][1000 genomes]
rs55735471	0.92[ASN][1000 genomes]
rs7866652	0.93[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	nsv893694	chr9:108486533-108854018	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1041073	chr9:108535813-108731343	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv831679	chr9:108603112-108785347	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1047166	chr9:108693810-108921872	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108720600-108731200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:108726000-108731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:108726200-108731200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:108726800-108730800	Weak transcription	Brain Anterior Caudate	brain
5	chr9:108726800-108736800	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:108727000-108731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:108728200-108732600	Enhancers	Fetal Brain Male	brain
8	chr9:108728800-108733800	Enhancers	Brain Cingulate Gyrus	brain
9	chr9:108729000-108736800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:108729400-108732200	Enhancers	Brain Germinal Matrix	brain
11	chr9:108729400-108732800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:108729400-108733000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:108729600-108732800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:108729600-108732800	Enhancers	Brain Hippocampus Middle	brain
15	chr9:108729600-108733400	Enhancers	Brain Substantia Nigra	brain
16	chr9:108729800-108731600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:108730000-108733600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:108730200-108732000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:108730200-108732600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:108730200-108732800	Enhancers	Brain Angular Gyrus	brain
21	chr9:108730400-108731000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:108730400-108731600	Weak transcription	Fetal Brain Female	brain

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