Variant report

Variant	rs57082026
Chromosome Location	chr7:21961647-21961648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10950883	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1128250	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12055905	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12055908	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12539984	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12673256	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1919906	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55658106	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57033293	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59258063	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62445924	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62445926	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62445928	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62445933	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62445935	0.88[ASN][1000 genomes]
rs6959493	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6959806	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6963571	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6978094	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7798564	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807924	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1027453	chr7:21918474-21982448	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57082026	CDCA7L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21933000-21963200	Weak transcription	A549	lung
2	chr7:21938600-21984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:21946200-21963400	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:21948800-21981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:21951600-21982600	Weak transcription	HSMM	muscle
6	chr7:21952400-21963200	Weak transcription	Psoas Muscle	Psoas
7	chr7:21952600-21977400	Weak transcription	NHDF-Ad	bronchial
8	chr7:21952800-21963200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:21954400-21963200	Weak transcription	Hela-S3	cervix
10	chr7:21954800-21961800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:21954800-21962800	Weak transcription	Pancreas	Pancrea
12	chr7:21954800-21966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:21954800-21970400	Weak transcription	Liver	Liver
14	chr7:21954800-21971800	Weak transcription	Gastric	stomach
15	chr7:21955000-21967400	Weak transcription	Fetal Intestine Small	intestine
16	chr7:21955000-21969800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:21955000-21979000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:21955000-21979200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:21955000-21979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:21955000-21981000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:21955200-21967800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:21956000-21966200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:21956000-21976400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:21956000-21981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:21956200-21961800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:21956200-21962800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:21956200-21963000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:21956200-21963200	Weak transcription	Ovary	ovary
29	chr7:21956200-21967200	Weak transcription	Thymus	Thymus
30	chr7:21956200-21967400	Weak transcription	Fetal Stomach	stomach
31	chr7:21956200-21976800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:21956400-21965400	Enhancers	Fetal Heart	heart
33	chr7:21956400-21980200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:21956600-21964000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:21956600-21966400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:21956600-21967400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:21956600-21970000	Weak transcription	Fetal Thymus	thymus
38	chr7:21956600-21983600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:21956800-21966600	Weak transcription	NHEK	skin
40	chr7:21958200-21965200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr7:21959200-21961800	Weak transcription	Left Ventricle	heart
42	chr7:21959400-21962000	Weak transcription	Right Atrium	heart
43	chr7:21959600-21965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:21959800-21962400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:21959800-21962600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:21959800-21964600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:21959800-21967000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:21959800-21973800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:21960000-21965000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:21960000-21965000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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