Variant report

Variant	rs6575977
Chromosome Location	chr14:103823348-103823349
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103821483..103823732-chr14:103852385..103854744,2	K562	blood:
2	chr14:103821079..103823394-chr14:103831751..103834974,3	MCF-7	breast:
3	chr14:103821519..103824408-chr14:103850595..103853885,3	K562	blood:
4	chr14:103822657..103824377-chr14:103851274..103853889,2	MCF-7	breast:
5	chr14:103819385..103824278-chr14:103849291..103854654,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12589817	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403171	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2403172	0.83[ASN][1000 genomes]
rs56982532	0.84[ASN][1000 genomes]
rs58153827	0.92[ASN][1000 genomes]
rs62006258	0.90[ASN][1000 genomes]
rs6575979	0.92[ASN][1000 genomes]
rs7149169	0.83[ASN][1000 genomes]
rs8013228	0.91[ASN][1000 genomes]
rs8014669	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs959083	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS 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	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103811800-103823400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:103821000-103823600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:103821000-103825200	Enhancers	NHEK	skin
4	chr14:103822400-103823400	Weak transcription	Hela-S3	cervix
5	chr14:103822400-103824400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:103822400-103826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:103822600-103823400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:103822600-103823400	Weak transcription	Spleen	Spleen
9	chr14:103822600-103823800	Enhancers	HepG2	liver
10	chr14:103822600-103824400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:103822600-103827000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:103822600-103828200	Weak transcription	A549	lung
13	chr14:103822800-103823400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:103822800-103824200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:103822800-103824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:103822800-103824200	Weak transcription	HMEC	breast
17	chr14:103822800-103824400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:103822800-103824400	Enhancers	K562	blood
19	chr14:103822800-103824600	Enhancers	NHLF	lung
20	chr14:103822800-103828200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:103822800-103828200	Weak transcription	Dnd41	blood
22	chr14:103823000-103827600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:103823000-103827800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:103823200-103823400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:103823200-103823400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast

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