Variant report

Variant	rs60625761
Chromosome Location	chr6:142720300-142720301
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142709536..142712491-chr6:142719118..142721434,2	K562	blood:

Variant related genes	Relation type
ENSG00000112414	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs56674756	0.94[AFR][1000 genomes]
rs58758475	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59051385	0.88[AFR][1000 genomes]
rs60150871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60185388	0.94[AFR][1000 genomes]
rs60199449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578337	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578347	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578355	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578363	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580425	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580470	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580474	0.94[AFR][1000 genomes]
rs73582544	0.94[AFR][1000 genomes]
rs73582555	0.94[AFR][1000 genomes]
rs73582556	0.94[AFR][1000 genomes]
rs73582558	0.94[AFR][1000 genomes]
rs73582562	0.94[AFR][1000 genomes]
rs73582566	0.94[AFR][1000 genomes]
rs73582567	0.94[AFR][1000 genomes]
rs73582568	0.94[AFR][1000 genomes]
rs73582569	0.88[AFR][1000 genomes]
rs73582571	0.88[AFR][1000 genomes]
rs73582577	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142698600-142733200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:142708000-142734800	Weak transcription	Esophagus	oesophagus
3	chr6:142709200-142721000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:142710000-142721600	Weak transcription	NHLF	lung
5	chr6:142710200-142733400	Weak transcription	HSMM	muscle
6	chr6:142711400-142725000	Strong transcription	HepG2	liver
7	chr6:142711800-142725200	Strong transcription	Liver	Liver
8	chr6:142712200-142735000	Weak transcription	Fetal Brain Male	brain
9	chr6:142714200-142733200	Weak transcription	HMEC	breast
10	chr6:142717200-142721600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:142717600-142721000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:142717600-142721000	Enhancers	Primary T cells from cord blood	blood
13	chr6:142717600-142721600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:142717600-142721600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:142717600-142724600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:142717600-142725800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:142718000-142721600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:142718000-142763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:142718200-142721600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:142718400-142722400	Strong transcription	Fetal Lung	lung
21	chr6:142718600-142720400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:142718600-142720800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:142718600-142720800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:142718600-142721000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:142718600-142724000	Strong transcription	Placenta	Placenta
26	chr6:142718800-142720600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:142719200-142720600	Enhancers	Duodenum Mucosa	Duodenum
28	chr6:142719200-142722600	Strong transcription	A549	lung
29	chr6:142719600-142720400	Strong transcription	NHEK	skin
30	chr6:142719600-142721000	Weak transcription	Stomach Mucosa	stomach
31	chr6:142719800-142721000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:142719800-142722000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:142719800-142735400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:142720000-142721600	Weak transcription	Fetal Heart	heart
35	chr6:142720200-142721200	Genic enhancers	HUVEC	blood vessel

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