Variant report

Variant	rs41512544
Chromosome Location	chr1:192736553-192736554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192729644..192732436-chr1:192734319..192737306,2	K562	blood:
2	chr1:192729644..192732088-chr1:192734668..192737306,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10489515	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10489517	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10921269	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12091442	1.00[EUR][1000 genomes]
rs12093765	1.00[EUR][1000 genomes]
rs12096309	1.00[EUR][1000 genomes]
rs1342808	1.00[EUR][1000 genomes]
rs1418719	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16834594	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16834597	1.00[EUR][1000 genomes]
rs16834625	1.00[EUR][1000 genomes]
rs16834852	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16834867	1.00[EUR][1000 genomes]
rs16834872	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16834876	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2296022	1.00[CEU][hapmap]
rs2296023	1.00[CEU][hapmap]
rs4658065	1.00[CEU][hapmap]
rs55747130	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56031935	1.00[EUR][1000 genomes]
rs57149196	1.00[EUR][1000 genomes]
rs57189481	1.00[EUR][1000 genomes]
rs57630083	1.00[EUR][1000 genomes]
rs57777171	0.93[AFR][1000 genomes]
rs57826402	1.00[EUR][1000 genomes]
rs57890252	1.00[EUR][1000 genomes]
rs57963116	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60892638	1.00[EUR][1000 genomes]
rs6680350	1.00[EUR][1000 genomes]
rs6683145	1.00[EUR][1000 genomes]
rs6689962	1.00[EUR][1000 genomes]
rs6702235	1.00[EUR][1000 genomes]
rs6702236	1.00[EUR][1000 genomes]
rs73052222	1.00[EUR][1000 genomes]
rs73060168	1.00[EUR][1000 genomes]
rs73060190	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73062239	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73062264	1.00[EUR][1000 genomes]
rs73062267	1.00[EUR][1000 genomes]
rs73062271	1.00[EUR][1000 genomes]
rs73062273	1.00[EUR][1000 genomes]
rs73062285	1.00[EUR][1000 genomes]
rs73062286	1.00[EUR][1000 genomes]
rs73062290	1.00[EUR][1000 genomes]
rs73064112	1.00[EUR][1000 genomes]
rs73064182	1.00[EUR][1000 genomes]
rs73064200	1.00[EUR][1000 genomes]
rs73066132	1.00[EUR][1000 genomes]
rs73068111	1.00[EUR][1000 genomes]
rs73068113	1.00[EUR][1000 genomes]
rs73068116	1.00[EUR][1000 genomes]
rs74130451	1.00[EUR][1000 genomes]
rs74130466	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7538953	1.00[EUR][1000 genomes]
rs7552270	1.00[EUR][1000 genomes]
rs7555263	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv997662	chr1:192715815-192740227	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192732200-192736600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:192733800-192737400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:192734400-192739400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:192735200-192736600	Enhancers	Hela-S3	cervix
5	chr1:192735400-192737600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:192735600-192736800	Weak transcription	NHLF	lung
7	chr1:192735600-192737600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:192735600-192737800	Enhancers	Fetal Heart	heart
9	chr1:192736400-192737400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:192736400-192737600	Enhancers	Fetal Lung	lung
11	chr1:192736400-192738400	Enhancers	Colon Smooth Muscle	Colon

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