Variant report

Variant	rs61988004
Chromosome Location	chr14:38120097-38120098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:38117406..38120270-chr14:38178890..38183081,3	MCF-7	breast:
2	chr14:38106973..38109198-chr14:38118349..38121005,2	MCF-7	breast:
3	chr14:38060700..38073158-chr14:38106984..38130497,55	MCF-7	breast:
4	chr14:38060550..38070653-chr14:38108679..38125791,47	MCF-7	breast:
5	chr14:38109867..38112781-chr14:38119992..38121808,2	MCF-7	breast:
6	chr14:38065320..38065829-chr14:38119737..38120477,2	MCF-7	breast:
7	chr14:38111721..38115535-chr14:38116911..38121515,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139865	Chromatin interaction
ENSG00000129514	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1022804	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10483492	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12147245	0.96[ASN][1000 genomes]
rs12147542	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17179288	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17179330	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17768466	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17768503	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs177831	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs177836	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177845	0.97[ASN][1000 genomes]
rs177846	0.97[ASN][1000 genomes]
rs177852	1.00[ASN][1000 genomes]
rs177857	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs177858	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs177859	1.00[ASN][1000 genomes]
rs177861	1.00[ASN][1000 genomes]
rs177862	1.00[ASN][1000 genomes]
rs177863	1.00[ASN][1000 genomes]
rs177865	0.93[ASN][1000 genomes]
rs177867	0.93[ASN][1000 genomes]
rs177872	0.88[ASN][1000 genomes]
rs177875	0.88[ASN][1000 genomes]
rs177877	0.87[ASN][1000 genomes]
rs177882	0.88[ASN][1000 genomes]
rs177885	0.88[ASN][1000 genomes]
rs1998359	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28802081	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs456510	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs457621	0.97[ASN][1000 genomes]
rs55822659	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61977073	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61977074	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61987973	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61987974	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61987975	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61987976	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61987980	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61987999	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61988001	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61988002	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61988005	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151000	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7151179	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73265363	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9671863	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[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	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
4	nsv1054995	chr14:38078027-38138176	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38119200-38120400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:38119400-38120200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr14:38119400-38120400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:38119400-38120400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:38119400-38120400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:38119600-38120200	Enhancers	Stomach Mucosa	stomach
7	chr14:38119600-38120400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:38119600-38120400	Enhancers	Brain Germinal Matrix	brain
9	chr14:38119600-38121200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:38119600-38121200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:38119600-38121200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:38120000-38120200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:38120000-38120200	Flanking Active TSS	HepG2	liver
14	chr14:38120000-38120400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr14:38120000-38120400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:38120000-38126200	Weak transcription	Liver	Liver

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