Variant report

Variant	rs60089254
Chromosome Location	chr4:78066466-78066467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1477312	0.81[EUR][1000 genomes]
rs17002420	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150035	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4150063	0.81[EUR][1000 genomes]
rs59392243	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532864	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6814525	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7656746	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr4:78059000-78067200	Weak transcription	Small Intestine	intestine
2	chr4:78059200-78067200	Weak transcription	Fetal Lung	lung
3	chr4:78064000-78067600	Weak transcription	HSMMtube	muscle
4	chr4:78064200-78067000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:78064600-78066600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:78064600-78067000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:78064800-78066800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:78064800-78067000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:78065600-78069200	Enhancers	Fetal Intestine Large	intestine
10	chr4:78065800-78066800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr4:78065800-78068200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr4:78065800-78069400	Enhancers	Fetal Intestine Small	intestine
13	chr4:78066000-78067400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:78066400-78066800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:78066400-78066800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:78066400-78067000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr4:78066400-78068400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr4:78066400-78069400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr4:78066400-78069800	Enhancers	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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