Variant report

Variant	rs71595603
Chromosome Location	chr5:14561141-14561142
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs152624	0.85[EUR][1000 genomes]
rs152768	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14557000-14561200	Enhancers	Colonic Mucosa	Colon
2	chr5:14558800-14562000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr5:14559000-14561600	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:14560000-14561200	Enhancers	Fetal Thymus	thymus
5	chr5:14560400-14569400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:14560600-14561200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:14560600-14561600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:14560600-14576000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:14560800-14561600	Enhancers	Duodenum Mucosa	Duodenum
10	chr5:14560800-14561600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:14560800-14561800	Enhancers	Primary T cells from cord blood	blood
12	chr5:14560800-14562000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:14560800-14562000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:14560800-14562200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:14560800-14562200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:14560800-14562400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:14561000-14561400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:14561000-14562000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:14561000-14566200	Weak transcription	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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