Variant report

Variant	rs2306985
Chromosome Location	chr4:100516022-100516023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100510941..100516504-chr4:100517458..100521970,4	K562	blood:
2	chr4:100513715..100518811-chr4:100519053..100522722,5	K562	blood:
3	chr4:100510715..100513886-chr4:100514964..100518319,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-766F14.2.1-1	chr4:100515956-100516038	ENSG00000248676.1

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10516445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639930	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12641768	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12647188	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13105033	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13112253	0.86[CEU][hapmap]
rs13126189	1.00[ASN][1000 genomes]
rs13130949	0.84[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs1352775	0.83[CEU][hapmap]
rs1491238	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255119	0.93[YRI][hapmap]
rs3805337	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828543	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532825	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6852647	0.88[ASN][1000 genomes]
rs7659550	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7698798	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881981	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959247	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs991811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100507800-100533800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:100509800-100518200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:100511400-100520800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr4:100511600-100517800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:100514000-100516400	Genic enhancers	Liver	Liver
6	chr4:100515000-100516200	Genic enhancers	Fetal Intestine Large	intestine
7	chr4:100515000-100517000	Strong transcription	HepG2	liver
8	chr4:100515400-100518200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:100515800-100516200	Genic enhancers	Fetal Intestine Small	intestine
10	chr4:100515800-100516800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:100516000-100516800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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