Variant report

Variant	rs1366678
Chromosome Location	chr2:144856500-144856501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:144852060..144853954-chr2:144855359..144857204,2	K562	blood:
2	chr2:144841519..144844337-chr2:144854788..144856843,2	K562	blood:
3	chr2:144835744..144838498-chr2:144855384..144857120,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10496956	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs3731958	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs787172	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1366678	GTDC1	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144843000-144857200	Weak transcription	Psoas Muscle	Psoas
2	chr2:144843200-144857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:144845200-144857000	Weak transcription	NH-A	brain
4	chr2:144845400-144857000	Weak transcription	HSMM	muscle
5	chr2:144848000-144861600	Weak transcription	Ovary	ovary
6	chr2:144853000-144862200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:144854400-144857400	Weak transcription	Pancreas	Pancrea
8	chr2:144854400-144862000	Weak transcription	Right Ventricle	heart
9	chr2:144854400-144862200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:144854800-144857000	Weak transcription	Fetal Kidney	kidney
11	chr2:144855200-144857400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:144855600-144857200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:144855800-144857000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:144855800-144857000	Weak transcription	Fetal Lung	lung
15	chr2:144855800-144857200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:144855800-144857400	Weak transcription	NHDF-Ad	bronchial
17	chr2:144855800-144864800	Weak transcription	Right Atrium	heart
18	chr2:144856000-144857000	Weak transcription	NHLF	lung
19	chr2:144856000-144860000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:144856200-144856600	Weak transcription	Fetal Heart	heart
21	chr2:144856400-144858200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:144856400-144858400	Enhancers	HMEC	breast

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