Variant report

Variant	rs2790754
Chromosome Location	chr1:222133118-222133119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11118919	0.89[JPT][hapmap]
rs1416894	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2039806	0.88[EUR][1000 genomes]
rs2185326	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2790756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800841	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800845	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800853	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4846738	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6671937	0.90[CHB][hapmap];0.89[JPT][hapmap];0.84[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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222126200-222133400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222130800-222133800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:222132000-222133600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:222132000-222133600	Weak transcription	Dnd41	blood
5	chr1:222132000-222133800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:222132000-222133800	Weak transcription	HSMM	muscle
7	chr1:222132000-222134800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:222132000-222134800	Weak transcription	NHEK	skin
9	chr1:222132000-222135000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:222132000-222135200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:222132200-222134200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:222132200-222135200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:222132400-222133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:222132400-222133800	Weak transcription	Hela-S3	cervix
15	chr1:222132400-222134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:222132600-222133600	Weak transcription	K562	blood
17	chr1:222132600-222133800	Weak transcription	HMEC	breast
18	chr1:222133000-222133200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:222133000-222133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:222133000-222134200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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