Variant report

Variant	rs7985588
Chromosome Location	chr13:95356295-95356296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr13:95356145-95356587	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr13:95356076-95356555	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:95355851-95356643	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95355528..95357274-chr13:95361498..95363560,2	K562	blood:

Variant related genes	Relation type
LINC00391	TF binding region
RN7SL585P	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1417733	0.81[ASN][1000 genomes]
rs1417734	0.81[ASN][1000 genomes]
rs1535648	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1535649	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2093689	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs55736178	0.87[ASN][1000 genomes]
rs61965639	0.85[ASN][1000 genomes]
rs7982581	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap]
rs7994578	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9556409	0.88[ASN][1000 genomes]
rs9556410	0.88[ASN][1000 genomes]
rs9561662	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
3	esv1813549	chr13:95333331-95377127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7985588	DNAJC3	cis	Nerve Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95353800-95358000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:95354000-95357800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr13:95354400-95356600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr13:95354400-95356600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr13:95354600-95356400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr13:95354600-95356400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr13:95354600-95356400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr13:95354600-95356800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
9	chr13:95354600-95358600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr13:95354800-95356400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:95354800-95356600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr13:95354800-95357000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:95355200-95357000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr13:95355400-95356400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr13:95355600-95356400	Bivalent Enhancer	Esophagus	oesophagus
16	chr13:95355600-95356800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr13:95355800-95356400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:95355800-95356400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
19	chr13:95355800-95356400	Bivalent Enhancer	Fetal Heart	heart
20	chr13:95355800-95359600	Weak transcription	Pancreas	Pancrea
21	chr13:95356000-95356400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr13:95356000-95356600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr13:95356000-95356600	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr13:95356000-95356800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:95356000-95357000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr13:95356200-95356400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:95356200-95356400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
28	chr13:95356200-95356400	Bivalent Enhancer	Placenta	Placenta
29	chr13:95356200-95356600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:95356200-95356600	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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