Variant report

Variant	rs74101362
Chromosome Location	chr1:93239824-93239825
allele	C/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:40)

rs_ID	r²[population]
rs10465757	0.89[EUR][1000 genomes]
rs12564537	0.89[EUR][1000 genomes]
rs12565227	0.89[EUR][1000 genomes]
rs17131655	0.89[EUR][1000 genomes]
rs2785608	1.00[EUR][1000 genomes]
rs41286813	0.89[EUR][1000 genomes]
rs4130290	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4240963	1.00[EUR][1000 genomes]
rs4264009	1.00[EUR][1000 genomes]
rs4442373	1.00[EUR][1000 genomes]
rs4847388	1.00[EUR][1000 genomes]
rs501894	1.00[EUR][1000 genomes]
rs55995837	0.89[EUR][1000 genomes]
rs56144352	0.83[AMR][1000 genomes]
rs56172716	0.91[AMR][1000 genomes]
rs56185219	0.89[EUR][1000 genomes]
rs56695578	0.89[EUR][1000 genomes]
rs56764656	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57782462	0.91[AMR][1000 genomes]
rs59459727	0.91[AMR][1000 genomes]
rs59552478	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59925050	0.89[EUR][1000 genomes]
rs60842823	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61259042	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs652456	1.00[EUR][1000 genomes]
rs6669107	1.00[EUR][1000 genomes]
rs6699723	0.89[EUR][1000 genomes]
rs74101190	0.83[AMR][1000 genomes]
rs74101310	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101322	0.89[EUR][1000 genomes]
rs74101354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101363	0.89[EUR][1000 genomes]
rs74102906	0.91[AMR][1000 genomes]
rs74102948	0.91[AMR][1000 genomes]
rs74102953	0.91[AMR][1000 genomes]
rs7535486	1.00[EUR][1000 genomes]
rs7548287	0.89[EUR][1000 genomes]
rs9439942	0.89[EUR][1000 genomes]
rs969698	0.89[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1938423	chr1:93235923-93241505	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
2	chr1:93214000-93240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:93214000-93248400	Weak transcription	Lung	lung
4	chr1:93222000-93248000	Weak transcription	HSMMtube	muscle
5	chr1:93222400-93240600	Weak transcription	Left Ventricle	heart
6	chr1:93222400-93248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:93222400-93248200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:93222400-93248400	Weak transcription	Placenta	Placenta
9	chr1:93222600-93246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:93225600-93248000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:93226000-93249200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:93228000-93240600	Weak transcription	Pancreas	Pancrea
13	chr1:93231600-93248000	Weak transcription	Adipose Nuclei	Adipose
14	chr1:93233000-93240000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:93234400-93245000	Weak transcription	Fetal Intestine Small	intestine
16	chr1:93234400-93248000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:93234600-93240000	Weak transcription	HepG2	liver
18	chr1:93234600-93243200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:93234600-93248000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:93234800-93248200	Weak transcription	Primary B cells from cord blood	blood
21	chr1:93234800-93249200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:93235000-93248200	Weak transcription	NHLF	lung
23	chr1:93235200-93245600	Weak transcription	Right Ventricle	heart
24	chr1:93235200-93247200	Weak transcription	NHEK	skin
25	chr1:93235600-93248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:93236200-93247800	Weak transcription	Hela-S3	cervix
27	chr1:93237000-93246200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:93237200-93240000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:93237200-93240000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:93237200-93243800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:93238800-93246800	Weak transcription	Gastric	stomach
32	chr1:93239200-93240400	Weak transcription	Brain Anterior Caudate	brain
33	chr1:93239200-93240400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:93239200-93240800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:93239200-93241000	Enhancers	Brain Angular Gyrus	brain
36	chr1:93239200-93241200	Enhancers	Brain Substantia Nigra	brain
37	chr1:93239200-93241600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:93239200-93243200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:93239600-93240000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:93239600-93241200	Enhancers	Brain Hippocampus Middle	brain
41	chr1:93239600-93249400	Weak transcription	Ovary	ovary
42	chr1:93239800-93240600	Enhancers	HUES64 Cell Line	embryonic stem cell

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