Variant report

Variant	rs73578320
Chromosome Location	chr6:142638644-142638645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2232294	1.00[AMR][1000 genomes]
rs2232299	1.00[AMR][1000 genomes]
rs58545531	1.00[AMR][1000 genomes]
rs73572396	1.00[AMR][1000 genomes]
rs73572398	1.00[AMR][1000 genomes]
rs73574224	1.00[AMR][1000 genomes]
rs73574240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579801	1.00[AMR][1000 genomes]
rs73580458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581604	1.00[AMR][1000 genomes]
rs73581617	1.00[AMR][1000 genomes]
rs73581623	1.00[AMR][1000 genomes]
rs73588179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590005	1.00[AMR][1000 genomes]
rs73590065	1.00[AMR][1000 genomes]
rs73590081	1.00[AMR][1000 genomes]
rs9484604	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
3	nsv1029666	chr6:142594099-142643084	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3423211	chr6:142637884-142640432	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3325341	chr6:142638134-142640532	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3399846	chr6:142638284-142640832	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3436913	chr6:142638509-142640207	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142624800-142651800	Weak transcription	HSMM	muscle
2	chr6:142626000-142650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:142626600-142639800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:142632400-142644200	Weak transcription	HMEC	breast
5	chr6:142633200-142651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:142634800-142640200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:142634800-142641400	Weak transcription	Fetal Lung	lung
8	chr6:142634800-142641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:142634800-142646400	Weak transcription	HUVEC	blood vessel
10	chr6:142635000-142651000	Weak transcription	NHEK	skin
11	chr6:142635600-142640000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:142635800-142640800	Weak transcription	NHLF	lung
13	chr6:142636200-142639600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:142638400-142638800	Enhancers	A549	lung
15	chr6:142638400-142639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:142638600-142639600	Weak transcription	HepG2	liver
17	chr6:142638600-142639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:142638600-142639800	Weak transcription	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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