Variant report

Variant	rs9993738
Chromosome Location	chr4:122176770-122176771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10014886	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11733526	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13149116	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13149670	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13150071	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1960057	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4833709	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6534258	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6534260	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6831554	0.85[AMR][1000 genomes]
rs7356479	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663303	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv879861	chr4:122126808-122181277	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv4493	chr4:122163743-122185981	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122170800-122179400	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr4:122173000-122177000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr4:122173000-122178600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:122173400-122178600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr4:122173400-122178600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr4:122173600-122178600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:122173600-122178600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr4:122173800-122176800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:122173800-122184000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:122174000-122183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:122174600-122178600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr4:122174600-122178600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:122174800-122178600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr4:122175400-122177200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:122175400-122177600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:122175600-122178800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:122176000-122178400	Enhancers	Dnd41	blood
18	chr4:122176200-122177800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr4:122176200-122179400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:122176400-122178200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:122176400-122178400	Enhancers	Primary T cells from cord blood	blood
22	chr4:122176600-122177400	Enhancers	GM12878-XiMat	blood
23	chr4:122176600-122177600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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