Variant report

Variant	rs2223940
Chromosome Location	chr6:73469485-73469486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs7743912	0.84[AMR][1000 genomes]
rs7749542	0.84[AMR][1000 genomes]
rs9293908	0.84[AMR][1000 genomes]
rs9293912	0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9442843	0.84[AMR][1000 genomes]
rs9442844	0.84[AMR][1000 genomes]
rs9442846	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830689	chr6:73385557-73544404	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830690	chr6:73391428-73574304	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886154	chr6:73442239-73471683	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73452600-73469800	Weak transcription	Aorta	Aorta
2	chr6:73460000-73469600	Weak transcription	HSMM	muscle
3	chr6:73464600-73469800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73465200-73469800	Enhancers	Fetal Heart	heart
5	chr6:73465600-73470400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:73467200-73469600	Weak transcription	Osteobl	bone
7	chr6:73467200-73470200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:73467800-73470600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:73468200-73470200	Enhancers	NHEK	skin
10	chr6:73468400-73469600	Weak transcription	Adipose Nuclei	Adipose
11	chr6:73468400-73470400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:73468600-73470000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:73468800-73470000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:73468800-73470000	Enhancers	Pancreas	Pancrea
15	chr6:73468800-73470000	Weak transcription	GM12878-XiMat	blood
16	chr6:73468800-73470200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:73468800-73470200	Enhancers	HMEC	breast
18	chr6:73468800-73470400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:73469000-73469800	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:73469200-73469800	Enhancers	Brain Substantia Nigra	brain
21	chr6:73469200-73470200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:73469200-73470400	Enhancers	Psoas Muscle	Psoas
23	chr6:73469200-73470400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr6:73469200-73470600	Enhancers	Fetal Brain Female	brain
25	chr6:73469200-73471400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:73469400-73470000	Enhancers	Brain Germinal Matrix	brain
27	chr6:73469400-73470400	Enhancers	Fetal Brain Male	brain
28	chr6:73469400-73470600	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links