Variant report

Variant	rs11621258
Chromosome Location	chr14:68169000-68169001
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68160479..68163286-chr14:68167983..68171190,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072042	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10141638	1.00[JPT][hapmap]
rs1040598	1.00[JPT][hapmap]
rs11158694	1.00[JPT][hapmap]
rs11621019	1.00[JPT][hapmap]
rs11626332	1.00[JPT][hapmap]
rs11626769	1.00[JPT][hapmap]
rs11629282	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432558	1.00[JPT][hapmap]
rs12433710	1.00[JPT][hapmap]
rs12891164	1.00[JPT][hapmap]
rs12893157	1.00[JPT][hapmap]
rs1543391	1.00[JPT][hapmap]
rs17191694	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17782224	1.00[YRI][hapmap]
rs17783094	1.00[JPT][hapmap]
rs1810523	1.00[JPT][hapmap]
rs181561	1.00[JPT][hapmap]
rs181564	1.00[JPT][hapmap]
rs181565	1.00[JPT][hapmap]
rs181570	1.00[JPT][hapmap]
rs181576	1.00[JPT][hapmap]
rs2145467	1.00[YRI][hapmap]
rs2235967	1.00[JPT][hapmap]
rs2295106	1.00[JPT][hapmap]
rs2295107	1.00[JPT][hapmap]
rs2874132	1.00[JPT][hapmap]
rs2874133	1.00[JPT][hapmap]
rs3742879	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4143685	1.00[JPT][hapmap]
rs7143196	1.00[JPT][hapmap]
rs7143496	1.00[JPT][hapmap]
rs7149482	1.00[JPT][hapmap]
rs7150705	1.00[JPT][hapmap]
rs7150903	1.00[JPT][hapmap]
rs7151495	1.00[JPT][hapmap]
rs7159622	1.00[JPT][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68162600-68171400	Weak transcription	Aorta	Aorta
2	chr14:68162600-68171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:68162800-68171000	Weak transcription	A549	lung
4	chr14:68162800-68171200	Weak transcription	K562	blood
5	chr14:68166200-68170400	Weak transcription	Liver	Liver
6	chr14:68166200-68171200	Weak transcription	HepG2	liver
7	chr14:68167800-68169400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:68168000-68169000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr14:68168800-68169800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:68168800-68170200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr14:68168800-68171200	Weak transcription	Hela-S3	cervix
12	chr14:68168800-68171400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:68169000-68169400	Weak transcription	Monocytes-CD14+_RO01746	blood

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