Variant report

Variant	rs1993055
Chromosome Location	chr7:37993337-37993338
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12701600	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1376260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450849	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450850	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1616485	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1619560	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1621407	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1668348	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1668353	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1668354	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1668357	0.94[EUR][1000 genomes]
rs1668361	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1668362	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1668363	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1717732	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1717737	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1717741	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1717742	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1717744	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1823522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1901197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167267	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2246953	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2598086	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2598090	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2598093	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722274	0.91[ASN][1000 genomes]
rs2722278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722283	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722287	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722288	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723719	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs976798	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8074	chr7:37865340-38210087	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:37978400-37994200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:37984200-37993600	Weak transcription	Brain Angular Gyrus	brain
3	chr7:37984400-37995000	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:37984800-37993600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:37986000-37993600	Weak transcription	Fetal Brain Female	brain
6	chr7:37987400-37994200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:37987400-37997200	Weak transcription	Psoas Muscle	Psoas
8	chr7:37987800-37993800	Strong transcription	A549	lung
9	chr7:37987800-37996000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:37988000-37993400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr7:37988400-37993600	Strong transcription	HSMMtube	muscle
12	chr7:37988600-37993400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:37988600-37993600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:37989000-37993600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:37989400-37993400	Weak transcription	Lung	lung
16	chr7:37989400-37994600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:37989400-37998800	Weak transcription	Thymus	Thymus
18	chr7:37989800-37993800	Strong transcription	HSMM	muscle
19	chr7:37990200-37996000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:37992200-38017600	Weak transcription	Ovary	ovary
21	chr7:37992400-37994000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:37992400-37994800	Weak transcription	Adipose Nuclei	Adipose
23	chr7:37992400-37997400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:37992400-37998200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:37992600-37994000	Weak transcription	Dnd41	blood
26	chr7:37992600-37996000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:37992600-37999200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:37992600-38026800	Weak transcription	Pancreas	Pancrea
29	chr7:37992800-37995200	Weak transcription	Liver	Liver
30	chr7:37993000-37994600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:37993000-37994800	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:37993000-37997400	Weak transcription	Aorta	Aorta
33	chr7:37993000-38007600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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