Variant report

Variant	rs4844913
Chromosome Location	chr1:210068117-210068118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1028325	0.82[EUR][1000 genomes]
rs1040423	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10863799	0.82[EUR][1000 genomes]
rs11119363	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11119369	0.83[EUR][1000 genomes]
rs11119370	0.80[EUR][1000 genomes]
rs12025114	0.84[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs12078439	0.86[EUR][1000 genomes]
rs12079815	0.90[EUR][1000 genomes]
rs12083466	0.85[EUR][1000 genomes]
rs12092530	0.86[EUR][1000 genomes]
rs1387934	0.83[CHB][hapmap]
rs227221	0.83[CHB][hapmap]
rs2357212	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2743891	0.85[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs4454550	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4462143	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6540567	0.88[EUR][1000 genomes]
rs6540568	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6540569	0.81[CEU][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs6540570	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6662445	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6667057	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6678081	0.82[EUR][1000 genomes]
rs6702961	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs701947	0.81[CEU][hapmap];0.91[TSI][hapmap]
rs701948	0.81[CEU][hapmap];0.91[TSI][hapmap]
rs724054	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7528647	0.81[CEU][hapmap];0.91[TSI][hapmap]
rs7549523	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7549696	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs846559	0.85[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap]
rs9429827	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9429829	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs9429830	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs9430020	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9430024	0.80[EUR][1000 genomes]
rs9662387	0.81[EUR][1000 genomes]
rs986057	0.81[CEU][hapmap];0.81[EUR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1821635	chr1:210068117-210085756	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210060600-210068200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210064400-210068200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:210064400-210068800	Weak transcription	HSMM	muscle
4	chr1:210064600-210068200	Weak transcription	HUVEC	blood vessel
5	chr1:210065200-210068200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:210065200-210068200	Weak transcription	Osteobl	bone
7	chr1:210066200-210068800	Enhancers	Hela-S3	cervix
8	chr1:210066600-210070800	Enhancers	NHEK	skin
9	chr1:210066800-210070800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:210066800-210070800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:210067000-210068400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:210067200-210068200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:210067200-210068200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:210067200-210069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:210067200-210069600	Weak transcription	HSMMtube	muscle
16	chr1:210067400-210069600	Weak transcription	NHDF-Ad	bronchial
17	chr1:210067600-210071000	Enhancers	HMEC	breast
18	chr1:210067800-210071000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:210068000-210068800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:210068000-210069000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:210068000-210069400	Enhancers	NH-A	brain
22	chr1:210068000-210070200	Enhancers	Primary T cells from cord blood	blood
23	chr1:210068000-210070400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:210068000-210070400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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