Variant report

Variant	rs12350134
Chromosome Location	chr9:110430765-110430766
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110429198..110431550-chr9:110446685..110449581,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12339806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12339850	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12347544	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12347609	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12347622	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12352414	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28379887	0.93[EUR][1000 genomes]
rs28410234	0.93[EUR][1000 genomes]
rs28501144	0.91[EUR][1000 genomes]
rs28545042	0.93[EUR][1000 genomes]
rs28558750	0.93[EUR][1000 genomes]
rs28718553	0.93[EUR][1000 genomes]
rs28756961	0.93[EUR][1000 genomes]
rs41368853	0.90[EUR][1000 genomes]
rs55732410	0.91[EUR][1000 genomes]
rs57223814	0.89[EUR][1000 genomes]
rs58725849	0.93[EUR][1000 genomes]
rs60233772	0.91[EUR][1000 genomes]
rs7341759	0.82[EUR][1000 genomes]
rs7341900	0.83[EUR][1000 genomes]
rs73653618	0.94[EUR][1000 genomes]
rs7868525	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs940291	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831683	chr9:110275212-110461288	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv893700	chr9:110365337-110451516	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv521747	chr9:110418574-110441113	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3527128	chr9:110426581-110432429	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3527123	chr9:110426981-110432779	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2505970	chr9:110427279-110432212	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3527130	chr9:110427322-110431849	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2334140	chr9:110427479-110431525	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3527124	chr9:110427548-110431464	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3482671	chr9:110427559-110431458	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3527125	chr9:110427564-110431434	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3527126	chr9:110427570-110431386	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3482673	chr9:110427593-110431426	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3527131	chr9:110427598-110431398	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3482672	chr9:110427610-110431377	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3482675	chr9:110427659-110431354	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3527127	chr9:110427669-110431353	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3482676	chr9:110427673-110431351	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3527132	chr9:110427673-110431351	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv13152	chr9:110427686-110431924	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv2655199	chr9:110428675-110431139	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110413000-110437000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:110426000-110435600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:110429600-110430800	Enhancers	HUVEC	blood vessel
4	chr9:110429600-110431200	Enhancers	Left Ventricle	heart
5	chr9:110430400-110435800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr9:110430600-110431800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:110430600-110436200	Weak transcription	Fetal Muscle Leg	muscle

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