Variant report

Variant	rs9692388
Chromosome Location	chr7:21976001-21976002
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10447610	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12154480	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1581694	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4442026	0.95[ASN][1000 genomes]
rs7786788	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7787345	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7791077	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9655217	0.91[ASN][1000 genomes]
rs9692398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
3	esv275068	chr7:21966107-21980773	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9692388	CDCA7L	cis	Whole Blood	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21938600-21984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:21948800-21981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:21951600-21982600	Weak transcription	HSMM	muscle
4	chr7:21952600-21977400	Weak transcription	NHDF-Ad	bronchial
5	chr7:21955000-21979000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:21955000-21979200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:21955000-21979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:21955000-21981000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:21956000-21976400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:21956000-21981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:21956200-21976800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:21956400-21980200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:21956600-21983600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:21963400-21979200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:21963600-21983600	Weak transcription	Ovary	ovary
16	chr7:21964000-21979200	Weak transcription	Hela-S3	cervix
17	chr7:21964200-21977400	Weak transcription	HUVEC	blood vessel
18	chr7:21965000-21976800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:21965200-21976400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:21965200-21982400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:21966600-21981000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:21967000-21977600	Weak transcription	NHEK	skin
23	chr7:21967600-21979000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:21967800-21976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:21967800-21978000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:21967800-21978800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:21967800-21979200	Weak transcription	Thymus	Thymus
28	chr7:21967800-21979600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:21967800-21982000	Weak transcription	Fetal Stomach	stomach
30	chr7:21970400-21976600	Weak transcription	Fetal Thymus	thymus
31	chr7:21970800-21978400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:21972800-21979200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:21973200-21981200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr7:21973200-21984200	Weak transcription	Esophagus	oesophagus
35	chr7:21973800-21977600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:21973800-21978800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:21974000-21979200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:21974200-21977800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:21974200-21978800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:21974600-21979200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr7:21974800-21978000	Weak transcription	Fetal Heart	heart
42	chr7:21974800-21981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:21975000-21978400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:21975000-21979200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:21975400-21978800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:21975600-21976400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:21975600-21976800	Strong transcription	Primary B cells from cord blood	blood
48	chr7:21975600-21977600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr7:21975600-21978400	Weak transcription	Left Ventricle	heart
50	chr7:21975800-21976200	ZNF genes & repeats	Fetal Lung	lung

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