Variant report

Variant	rs67994404
Chromosome Location	chr2:231120719-231120720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1010491	0.97[ASN][1000 genomes]
rs10205568	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16826932	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1946409	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35253977	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35540610	1.00[ASN][1000 genomes]
rs41309078	0.92[ASN][1000 genomes]
rs55657711	0.98[ASN][1000 genomes]
rs55796826	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55947860	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56083766	0.98[ASN][1000 genomes]
rs56246923	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57841972	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6436923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6436924	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66596912	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66673816	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67138220	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72986394	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72988209	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72988279	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72990219	0.90[ASN][1000 genomes]
rs72990227	0.83[ASN][1000 genomes]
rs73104283	0.98[ASN][1000 genomes]
rs7580269	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers 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	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
2	chr2:231101800-231121600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr2:231109600-231120800	Strong transcription	Primary B cells from cord blood	blood
4	chr2:231118200-231120800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr2:231118800-231121600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:231119200-231141200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:231120000-231120800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:231120000-231120800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:231120400-231121400	Weak transcription	GM12878-XiMat	blood
10	chr2:231120400-231122800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:231120400-231125600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:231120400-231126400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:231120400-231126600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:231120400-231128000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:231120600-231122800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:231120600-231125600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:231120600-231125800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:231120600-231126000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:231120600-231126600	Weak transcription	Primary T cells from cord blood	blood
20	chr2:231120600-231134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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