Variant report

Variant	rs59131705
Chromosome Location	chr7:98911912-98911913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98910744..98913991-chr7:98921648..98925716,5	K562	blood:
2	chr7:98899578..98901452-chr7:98910011..98912501,2	MCF-7	breast:
3	chr7:98905081..98907223-chr7:98910121..98912158,2	MCF-7	breast:
4	chr7:98739125..98741724-chr7:98911722..98914686,2	K562	blood:
5	chr7:98910016..98912819-chr7:98914266..98916529,2	K562	blood:
6	chr7:98881404..98883580-chr7:98910030..98912061,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction
ENSG00000241685	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11771702	0.90[ASN][1000 genomes]
rs11974885	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11976700	0.80[ASN][1000 genomes]
rs12112936	0.90[ASN][1000 genomes]
rs12113440	0.90[ASN][1000 genomes]
rs12538893	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17161662	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17161669	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651108	0.80[ASN][1000 genomes]
rs68164591	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6957987	0.90[ASN][1000 genomes]
rs6958704	0.90[ASN][1000 genomes]
rs6973408	0.90[ASN][1000 genomes]
rs73395508	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs733991	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59131705	GS1-259H13.2	cis	Thyroid	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98906800-98912000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:98908000-98917800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:98908200-98922600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:98908400-98921800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:98908400-98923000	Weak transcription	Aorta	Aorta
6	chr7:98909200-98912400	Enhancers	Stomach Mucosa	stomach
7	chr7:98910200-98921800	Weak transcription	Right Ventricle	heart
8	chr7:98910400-98912200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:98910600-98912000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:98910600-98922600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:98910800-98912200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:98910800-98912600	Enhancers	GM12878-XiMat	blood
13	chr7:98911000-98912000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:98911000-98912000	Weak transcription	HMEC	breast
15	chr7:98911000-98922400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:98911000-98922400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:98911000-98922600	Weak transcription	NHLF	lung
18	chr7:98911200-98912000	Weak transcription	Hela-S3	cervix
19	chr7:98911200-98922600	Weak transcription	Brain Substantia Nigra	brain
20	chr7:98911400-98922600	Weak transcription	A549	lung
21	chr7:98911800-98912400	Enhancers	Rectal Mucosa Donor 31	rectum

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