Variant report

Variant	rs1061271
Chromosome Location	chr4:100545051-100545052
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100542517..100545384-chr4:100546339..100548897,2	K562	blood:

Variant related genes	Relation type
ENSG00000248676	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1057613	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11930665	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13147975	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1491233	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2172138	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4368610	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699383	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6822162	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs883028	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][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	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100516400-100546200	Strong transcription	Liver	Liver
2	chr4:100518800-100545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:100522600-100545800	Strong transcription	Fetal Intestine Large	intestine
4	chr4:100532800-100545200	Weak transcription	Aorta	Aorta
5	chr4:100534800-100545400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:100536800-100545200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:100538200-100556000	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:100539400-100545200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:100541800-100547200	Weak transcription	Small Intestine	intestine
10	chr4:100542200-100545400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:100542400-100545200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:100542800-100546800	Enhancers	Fetal Lung	lung
13	chr4:100543600-100545200	Weak transcription	Fetal Stomach	stomach
14	chr4:100543800-100545400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:100543800-100545400	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:100544000-100545200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:100544000-100545200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:100544000-100551600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:100544000-100553200	Weak transcription	Psoas Muscle	Psoas
20	chr4:100544200-100545200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:100544200-100545400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:100544200-100547200	Weak transcription	HepG2	liver
23	chr4:100545000-100545800	Strong transcription	Duodenum Mucosa	Duodenum

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