Variant report

Variant	rs837388
Chromosome Location	chr5:40844543-40844544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40843666..40846372-chr5:40846627..40850268,4	K562	blood:
2	chr5:40823890..40825642-chr5:40844270..40847206,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1697938	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs323565	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs364443	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs420220	0.85[ASN][1000 genomes]
rs438652	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs441073	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6861054	0.85[ASN][1000 genomes]
rs6887212	0.85[ASN][1000 genomes]
rs837383	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs837388	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40836000-40852600	Weak transcription	Small Intestine	intestine
2	chr5:40841400-40852000	Weak transcription	Pancreas	Pancrea
3	chr5:40841800-40845000	Weak transcription	Lung	lung
4	chr5:40841800-40852400	Weak transcription	Esophagus	oesophagus
5	chr5:40842200-40852200	Weak transcription	Left Ventricle	heart
6	chr5:40842200-40852600	Weak transcription	Placenta	Placenta
7	chr5:40842200-40853800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:40842400-40852000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:40842400-40852400	Weak transcription	Liver	Liver
10	chr5:40842400-40852400	Weak transcription	Ovary	ovary
11	chr5:40842400-40852600	Weak transcription	Primary T cells from cord blood	blood
12	chr5:40842400-40853400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:40842400-40853800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:40842400-40854200	Weak transcription	Fetal Stomach	stomach
15	chr5:40842400-40854600	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:40842600-40844800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:40842600-40847600	Weak transcription	HMEC	breast
18	chr5:40842800-40846200	Weak transcription	A549	lung
19	chr5:40842800-40846800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:40842800-40849000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:40842800-40849200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:40842800-40852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:40842800-40853200	Weak transcription	Fetal Intestine Small	intestine
24	chr5:40842800-40854000	Weak transcription	Aorta	Aorta
25	chr5:40842800-40856000	Weak transcription	Right Ventricle	heart
26	chr5:40843000-40846000	Weak transcription	NHLF	lung
27	chr5:40843000-40849000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:40843200-40852200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:40843400-40848800	Weak transcription	Primary B cells from cord blood	blood
30	chr5:40843400-40851800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:40843400-40852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:40843600-40846200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr5:40843600-40854000	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:40843600-40857800	Weak transcription	Osteobl	bone
35	chr5:40843800-40845800	Genic enhancers	Monocytes-CD14+_RO01746	blood
36	chr5:40843800-40847000	Weak transcription	Stomach Mucosa	stomach
37	chr5:40843800-40852000	Weak transcription	Adipose Nuclei	Adipose
38	chr5:40843800-40852000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:40844000-40845200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:40844000-40846400	Weak transcription	K562	blood
41	chr5:40844000-40852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:40844000-40852400	Weak transcription	Hela-S3	cervix
43	chr5:40844200-40845400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:40844200-40846000	Weak transcription	HUVEC	blood vessel
45	chr5:40844400-40844600	Enhancers	Spleen	Spleen
46	chr5:40844400-40845600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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