Variant report

Variant	rs299191
Chromosome Location	chr5:118314955-118314956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs169917	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs213434	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs213435	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2442123	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs299201	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs299202	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs299205	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs368569	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs411110	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56333791	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017548	chr5:118276479-118358394	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv964930	chr5:118301974-118317943	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118304600-118321600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:118305200-118320400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:118305200-118322400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:118309600-118323000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:118310800-118320800	Weak transcription	Hela-S3	cervix
6	chr5:118311400-118316000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:118311400-118322800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:118313000-118323000	Weak transcription	Fetal Heart	heart
9	chr5:118313600-118315400	Weak transcription	Ovary	ovary
10	chr5:118313600-118322200	Weak transcription	Primary B cells from cord blood	blood
11	chr5:118314000-118322400	Weak transcription	Primary T cells from cord blood	blood
12	chr5:118314200-118315000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:118314600-118315600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:118314600-118316000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:118314600-118316000	Weak transcription	Gastric	stomach
16	chr5:118314600-118322400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:118314600-118323000	Weak transcription	Brain Angular Gyrus	brain
18	chr5:118314600-118323400	Weak transcription	Aorta	Aorta

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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