Variant report

Variant	rs1292569
Chromosome Location	chr6:54059315-54059316
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1150876	1.00[AMR][1000 genomes]
rs1150879	1.00[AMR][1000 genomes]
rs1150881	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1150883	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1150885	1.00[AMR][1000 genomes]
rs1280853	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1280855	1.00[AMR][1000 genomes]
rs1280856	1.00[AMR][1000 genomes]
rs1280858	1.00[AMR][1000 genomes]
rs1280859	1.00[AMR][1000 genomes]
rs1280860	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1290258	1.00[AMR][1000 genomes]
rs1298874	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1340669	1.00[AMR][1000 genomes]
rs1417388	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1614889	1.00[AMR][1000 genomes]
rs1775795	1.00[AMR][1000 genomes]
rs2754784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2754791	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2754792	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2754796	1.00[AMR][1000 genomes]
rs2754799	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2754800	1.00[AMR][1000 genomes]
rs2754801	1.00[AMR][1000 genomes]
rs2754803	1.00[AMR][1000 genomes]
rs2754805	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2754806	1.00[AMR][1000 genomes]
rs2754807	1.00[AMR][1000 genomes]
rs2754811	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2792626	1.00[AMR][1000 genomes]
rs2792628	1.00[AMR][1000 genomes]
rs2792632	1.00[AMR][1000 genomes]
rs2792637	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2792639	1.00[AMR][1000 genomes]
rs2792640	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2792642	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2792643	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2792645	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2792647	1.00[AMR][1000 genomes]
rs2792648	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2792650	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2792651	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2792652	0.80[YRI][hapmap]
rs2792658	1.00[AMR][1000 genomes]
rs6458981	1.00[AMR][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	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017633	chr6:53935336-54118476	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
2	chr6:54045800-54069200	Weak transcription	Fetal Heart	heart
3	chr6:54047200-54069600	Weak transcription	Right Ventricle	heart
4	chr6:54047400-54069600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:54055200-54069600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:54057400-54059600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:54057600-54059400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:54057600-54059400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:54057800-54059400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:54057800-54059400	Enhancers	NHLF	lung
11	chr6:54058000-54059400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:54058000-54059400	Enhancers	HSMM	muscle
13	chr6:54058000-54059600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:54058000-54059800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:54058200-54059400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:54058200-54059400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:54058200-54059800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:54058400-54059400	Enhancers	HSMMtube	muscle
19	chr6:54058400-54059400	Enhancers	NH-A	brain
20	chr6:54058400-54059600	Enhancers	HUVEC	blood vessel
21	chr6:54058800-54059400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:54058800-54101000	Weak transcription	Left Ventricle	heart
23	chr6:54059200-54059400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:54059200-54059400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr6:54059200-54062200	Weak transcription	Primary monocytes fromperipheralblood	blood

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