Variant report

Variant	rs12349053
Chromosome Location	chr9:7543551-7543552
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10739135	1.00[ASN][1000 genomes]
rs12344464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12353094	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12353138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332185	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545152	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545153	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742371	1.00[ASN][1000 genomes]
rs62530068	0.81[EUR][1000 genomes]
rs62530069	0.88[EUR][1000 genomes]
rs62530070	0.86[EUR][1000 genomes]
rs62530071	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62530072	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62530073	0.85[EUR][1000 genomes]
rs62530074	0.92[ASN][1000 genomes]
rs62530075	0.85[EUR][1000 genomes]
rs72695131	0.86[EUR][1000 genomes]
rs72695132	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34566	chr9:7291742-7781370	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv818681	chr9:7292836-7781365	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1033077	chr9:7358832-7990735	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539977	chr9:7358832-7990735	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv831502	chr9:7428505-7599941	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1029032	chr9:7431547-7764888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv613265	chr9:7493198-7577893	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv429985	chr9:7520274-7619121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv429986	chr9:7522659-7577893	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv429988	chr9:7522659-7595558	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv429987	chr9:7522659-7619121	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1028504	chr9:7523311-7682789	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv539978	chr9:7523311-7682789	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2757310	chr9:7524075-7561271	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2759663	chr9:7524075-7561271	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv892201	chr9:7524075-7742476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv892202	chr9:7536158-7557471	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1015795	chr9:7540787-7701648	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv8412	chr9:7542679-7544390	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7540800-7549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:7541600-7544000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr9:7542000-7543600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:7542200-7543600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:7542200-7543600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:7542200-7543800	Enhancers	Brain Anterior Caudate	brain
7	chr9:7542400-7543800	Enhancers	Brain Cingulate Gyrus	brain
8	chr9:7543000-7544000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:7543000-7548800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:7543200-7543600	Enhancers	Brain Hippocampus Middle	brain
11	chr9:7543200-7543800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr9:7543200-7543800	Enhancers	Brain Substantia Nigra	brain
13	chr9:7543200-7548800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr9:7543200-7548800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:7543400-7543600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:7543400-7544600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:7543400-7548000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:7543400-7548600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:7543400-7548600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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