Variant report

Variant	rs7540383
Chromosome Location	chr1:95245603-95245604
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95239553..95241995-chr1:95245033..95246772,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11165239	1.00[EUR][1000 genomes]
rs11165244	1.00[EUR][1000 genomes]
rs11165250	1.00[EUR][1000 genomes]
rs11165255	1.00[EUR][1000 genomes]
rs11165257	1.00[EUR][1000 genomes]
rs12057287	1.00[EUR][1000 genomes]
rs12058606	1.00[EUR][1000 genomes]
rs12058766	1.00[EUR][1000 genomes]
rs12059284	1.00[EUR][1000 genomes]
rs12059919	1.00[EUR][1000 genomes]
rs12060754	1.00[EUR][1000 genomes]
rs12063764	1.00[EUR][1000 genomes]
rs12077638	1.00[EUR][1000 genomes]
rs12078728	1.00[EUR][1000 genomes]
rs12079200	1.00[EUR][1000 genomes]
rs12081570	1.00[EUR][1000 genomes]
rs12083162	1.00[EUR][1000 genomes]
rs12085965	1.00[EUR][1000 genomes]
rs12086647	1.00[EUR][1000 genomes]
rs12086825	1.00[EUR][1000 genomes]
rs12089732	1.00[EUR][1000 genomes]
rs12091334	1.00[EUR][1000 genomes]
rs12091567	1.00[EUR][1000 genomes]
rs12095617	1.00[EUR][1000 genomes]
rs3916208	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3931243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56004399	1.00[EUR][1000 genomes]
rs56075866	1.00[EUR][1000 genomes]
rs56088880	1.00[EUR][1000 genomes]
rs56252039	1.00[EUR][1000 genomes]
rs56989877	1.00[EUR][1000 genomes]
rs58484675	1.00[EUR][1000 genomes]
rs59906561	1.00[EUR][1000 genomes]
rs60642625	1.00[EUR][1000 genomes]
rs61371315	1.00[EUR][1000 genomes]
rs61634360	1.00[EUR][1000 genomes]
rs6665321	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72956408	1.00[EUR][1000 genomes]
rs72956422	1.00[EUR][1000 genomes]
rs72956423	1.00[EUR][1000 genomes]
rs72956425	1.00[EUR][1000 genomes]
rs72974472	1.00[EUR][1000 genomes]
rs72974480	1.00[EUR][1000 genomes]
rs74101525	1.00[EUR][1000 genomes]
rs74101528	1.00[EUR][1000 genomes]
rs74101530	1.00[EUR][1000 genomes]
rs74101532	1.00[EUR][1000 genomes]
rs74101533	1.00[EUR][1000 genomes]
rs74101536	1.00[EUR][1000 genomes]
rs74101553	1.00[EUR][1000 genomes]
rs74101559	1.00[EUR][1000 genomes]
rs74101566	1.00[EUR][1000 genomes]
rs74101887	1.00[EUR][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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95239200-95248600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:95239400-95249000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:95240000-95247000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:95240000-95249000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:95240800-95249000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:95242400-95248600	Weak transcription	HMEC	breast
7	chr1:95242600-95248800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:95242600-95249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:95242600-95249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:95242600-95249000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:95242600-95268000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:95243000-95249000	Weak transcription	Fetal Intestine Small	intestine
13	chr1:95243200-95246800	Weak transcription	Pancreas	Pancrea
14	chr1:95243200-95265000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:95243400-95248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:95244600-95247800	Weak transcription	Stomach Mucosa	stomach
17	chr1:95244800-95251000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:95245000-95247800	Weak transcription	Hela-S3	cervix
19	chr1:95245000-95248200	Weak transcription	NHDF-Ad	bronchial
20	chr1:95245200-95248200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:95245400-95245800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:95245600-95245800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:95245600-95245800	Enhancers	Lung	lung
24	chr1:95245600-95245800	ZNF genes & repeats	NHLF	lung
25	chr1:95245600-95249000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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