Variant report

Variant	rs4899220
Chromosome Location	chr14:68164032-68164033
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68153591..68158250-chr14:68160092..68166006,8	K562	blood:
2	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
3	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
4	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100568	Chromatin interaction
ENSG00000258466	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10135963	0.84[AFR][1000 genomes]
rs10136738	0.81[AFR][1000 genomes]
rs10139064	0.93[AFR][1000 genomes]
rs10145933	0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs10146242	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10147145	0.88[AFR][1000 genomes]
rs11849600	1.00[CEU][hapmap]
rs12100644	1.00[CEU][hapmap]
rs17104547	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17104587	0.86[AFR][1000 genomes]
rs2234506	0.83[AFR][1000 genomes]
rs2234512	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs2234515	1.00[CEU][hapmap]
rs28780734	0.90[AFR][1000 genomes]
rs4899218	0.85[AFR][1000 genomes]
rs4902510	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs57023353	0.82[AFR][1000 genomes]
rs7160492	1.00[CEU][hapmap]
rs7359109	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7765	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs8015003	1.00[CEU][hapmap]

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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr14:68162600-68164400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:68162600-68166200	Enhancers	Liver	Liver
3	chr14:68162600-68167000	Weak transcription	Osteobl	bone
4	chr14:68162600-68171400	Weak transcription	Aorta	Aorta
5	chr14:68162600-68171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:68162800-68171000	Weak transcription	A549	lung
7	chr14:68162800-68171200	Weak transcription	K562	blood
8	chr14:68163200-68166200	Enhancers	HepG2	liver
9	chr14:68163200-68167000	Weak transcription	Hela-S3	cervix
10	chr14:68164000-68164400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:68164000-68166600	Weak transcription	Monocytes-CD14+_RO01746	blood

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