Variant report

Variant	rs12528717
Chromosome Location	chr6:39028606-39028607
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10305445	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10305457	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190704	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742763	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910166	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv885821	chr6:38843970-39039503	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv948357	chr6:38920998-39035836	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1027064	chr6:38984374-39034516	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1801734	chr6:38986164-39034484	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv528286	chr6:39019503-39060478	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv470815	chr6:39022698-39051694	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39017200-39030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:39021200-39072000	Weak transcription	Gastric	stomach
3	chr6:39022400-39041600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:39023400-39029200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:39024000-39030000	Weak transcription	Right Atrium	heart
6	chr6:39024200-39057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:39025800-39030000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:39025800-39030600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:39026800-39032600	Enhancers	Fetal Intestine Small	intestine
10	chr6:39027000-39030200	Enhancers	Fetal Heart	heart
11	chr6:39027200-39034000	Weak transcription	Dnd41	blood
12	chr6:39027200-39036200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:39027400-39030000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:39027400-39073000	Weak transcription	Pancreas	Pancrea
15	chr6:39028000-39036000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:39028400-39028800	Enhancers	Lung	lung
17	chr6:39028400-39031200	Enhancers	Left Ventricle	heart
18	chr6:39028600-39029600	Weak transcription	Right Ventricle	heart
19	chr6:39028600-39032800	Enhancers	Fetal Intestine Large	intestine

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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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