Variant report

Variant	rs2529188
Chromosome Location	chr7:101343090-101343091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101331169..101333172-chr7:101342500..101345849,4	MCF-7	breast:
2	chr7:101331022..101333643-chr7:101341514..101343495,2	MCF-7	breast:
3	chr7:101338468..101347550-chr7:101456060..101461227,20	MCF-7	breast:
4	chr7:101341881..101343718-chr7:101375300..101377318,2	MCF-7	breast:
5	chr7:101342279..101347280-chr7:101371204..101374879,9	MCF-7	breast:
6	chr7:101342072..101344254-chr7:101386656..101389051,3	MCF-7	breast:
7	chr7:101341451..101343777-chr7:101646171..101649307,3	MCF-7	breast:
8	chr7:101339145..101341455-chr7:101342209..101344273,2	MCF-7	breast:
9	chr7:101342424..101345349-chr7:101371267..101374522,4	MCF-7	breast:
10	chr7:101342395..101344168-chr7:101354516..101356024,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12534998	0.92[ASN][1000 genomes]
rs12535663	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1722207	0.83[ASN][1000 genomes]
rs1969432	0.80[ASN][1000 genomes]
rs2429068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529179	0.89[ASN][1000 genomes]
rs2529181	0.84[ASN][1000 genomes]
rs2529182	0.89[ASN][1000 genomes]
rs2529186	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2529187	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2529189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529190	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2529242	0.86[ASN][1000 genomes]
rs2529246	0.89[ASN][1000 genomes]
rs2529247	0.93[ASN][1000 genomes]
rs2690890	0.88[ASN][1000 genomes]
rs2690891	0.88[ASN][1000 genomes]
rs2690892	0.88[ASN][1000 genomes]
rs2690893	0.88[ASN][1000 genomes]
rs2690896	0.94[ASN][1000 genomes]
rs2690902	0.98[ASN][1000 genomes]
rs35300212	0.86[EUR][1000 genomes]
rs66525873	0.82[EUR][1000 genomes]
rs940479	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr7:101332000-101376800	Weak transcription	Right Atrium	heart
2	chr7:101342400-101343200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:101342400-101343600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr7:101342600-101343800	Enhancers	Fetal Intestine Small	intestine
5	chr7:101342600-101346400	Enhancers	Fetal Intestine Large	intestine
6	chr7:101342800-101343200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
7	chr7:101342800-101343200	Active TSS	Spleen	Spleen
8	chr7:101342800-101343400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:101342800-101343400	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr7:101342800-101344800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:101343000-101343200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:101343000-101343200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr7:101343000-101343400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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