Variant report

Variant	rs2995344
Chromosome Location	chr6:73570522-73570523
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16882798	1.00[EUR][1000 genomes]
rs1935518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1935521	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1935524	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1935525	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2179953	1.00[EUR][1000 genomes]
rs2796002	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2796004	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2840798	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57695167	1.00[AMR][1000 genomes]
rs59148261	1.00[EUR][1000 genomes]
rs7743377	1.00[EUR][1000 genomes]
rs7770272	1.00[EUR][1000 genomes]
rs9442833	1.00[EUR][1000 genomes]
rs9442849	1.00[EUR][1000 genomes]
rs9442852	1.00[EUR][1000 genomes]
rs9442857	1.00[EUR][1000 genomes]
rs9446723	1.00[EUR][1000 genomes]
rs9446744	1.00[EUR][1000 genomes]
rs9446747	1.00[EUR][1000 genomes]
rs9446765	1.00[EUR][1000 genomes]
rs9446766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv830691	chr6:73530978-73743648	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv470834	chr6:73546750-73596605	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	nsv886155	chr6:73551937-73649330	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73509200-73572200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:73563600-73571000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:73566800-73571000	Weak transcription	Psoas Muscle	Psoas
4	chr6:73566800-73571200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:73566800-73571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:73567800-73570600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:73567800-73571000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:73567800-73571600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:73567800-73571600	Weak transcription	HMEC	breast
10	chr6:73568000-73571000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:73568200-73571400	Weak transcription	NH-A	brain
12	chr6:73568200-73571600	Weak transcription	NHEK	skin
13	chr6:73569600-73575600	Enhancers	HSMMtube	muscle
14	chr6:73569800-73571200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:73569800-73571800	Enhancers	HSMM	muscle
16	chr6:73569800-73572600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:73569800-73573200	Enhancers	HUVEC	blood vessel
18	chr6:73570000-73570600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:73570000-73572000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:73570000-73573200	Enhancers	Osteobl	bone
21	chr6:73570200-73573200	Enhancers	NHLF	lung
22	chr6:73570400-73571800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:73570400-73572200	Enhancers	Fetal Heart	heart
24	chr6:73570400-73572400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:73570400-73573200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:73570400-73576600	Enhancers	Skeletal Muscle Female	skeletal muscle

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