Variant report

Variant	rs6693000
Chromosome Location	chr1:211692622-211692623
allele	A/G
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:10)

rs_ID	r²[population]
rs1020335	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10863909	0.92[JPT][hapmap]
rs10863915	0.80[CEU][hapmap]
rs17017672	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2184855	0.92[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4287239	0.92[JPT][hapmap]
rs4951761	0.93[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4951763	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6664769	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs753646	0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1826724	chr1:211684336-211694508	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211688200-211701200	Weak transcription	Gastric	stomach
2	chr1:211689400-211694400	Weak transcription	Right Atrium	heart
3	chr1:211689400-211701200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:211689600-211692800	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:211690200-211693400	Enhancers	Primary B cells from cord blood	blood
7	chr1:211690200-211693400	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:211690200-211698400	Enhancers	Liver	Liver
9	chr1:211690400-211695800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:211690800-211694000	Weak transcription	Placenta	Placenta
11	chr1:211690800-211694400	Weak transcription	K562	blood
12	chr1:211690800-211694600	Weak transcription	A549	lung
13	chr1:211691000-211700400	Weak transcription	Fetal Thymus	thymus
14	chr1:211691200-211694400	Weak transcription	Hela-S3	cervix
15	chr1:211691400-211693000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:211691800-211693600	Flanking Active TSS	HepG2	liver
17	chr1:211692000-211693200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:211692400-211694200	Enhancers	GM12878-XiMat	blood

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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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