Variant report

Variant	rs55800030
Chromosome Location	chr4:129965430-129965431
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56107587	1.00[AFR][1000 genomes]
rs57959838	1.00[AFR][1000 genomes]
rs58757062	1.00[AFR][1000 genomes]
rs73847376	1.00[AFR][1000 genomes]
rs73847377	1.00[AFR][1000 genomes]
rs73847388	1.00[AFR][1000 genomes]
rs73847393	1.00[AFR][1000 genomes]
rs73847396	1.00[AFR][1000 genomes]
rs73848903	0.87[AFR][1000 genomes]
rs73848904	0.87[AFR][1000 genomes]
rs73848905	0.87[AFR][1000 genomes]
rs73848912	0.84[AFR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129945600-129981800	Weak transcription	Thymus	Thymus
2	chr4:129951200-129967200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:129951400-129976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:129953600-129965600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:129953600-129965600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:129958800-129966400	Weak transcription	Fetal Thymus	thymus
7	chr4:129959800-129965600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:129959800-129966000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:129961400-129965600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:129961400-129967800	Weak transcription	HSMM	muscle
11	chr4:129964400-129966400	Weak transcription	Monocytes-CD14+_RO01746	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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