Variant report

Variant	rs4006576
Chromosome Location	chr8:124413927-124413928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124406625..124409750-chr8:124412518..124416367,5	K562	blood:
2	chr8:124412641..124414334-chr8:124426914..124428862,2	K562	blood:

Variant related genes	Relation type
ENSG00000156802	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10111271	0.85[EUR][1000 genomes]
rs10956126	0.85[EUR][1000 genomes]
rs11774702	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11776589	0.83[EUR][1000 genomes]
rs11783637	0.85[EUR][1000 genomes]
rs11787093	0.82[EUR][1000 genomes]
rs12543979	0.82[EUR][1000 genomes]
rs12707901	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3779985	0.82[EUR][1000 genomes]
rs3779989	0.91[EUR][1000 genomes]
rs3779991	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3857957	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4870851	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4871366	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4871367	0.87[EUR][1000 genomes]
rs4871368	0.87[EUR][1000 genomes]
rs4871370	0.85[EUR][1000 genomes]
rs4871371	0.85[EUR][1000 genomes]
rs4871373	0.85[EUR][1000 genomes]
rs4871377	0.82[EUR][1000 genomes]
rs62519216	0.81[EUR][1000 genomes]
rs6470146	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6981304	0.82[EUR][1000 genomes]
rs6986525	0.81[EUR][1000 genomes]
rs7012343	0.82[EUR][1000 genomes]
rs7833321	0.82[EUR][1000 genomes]
rs7836626	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7836880	0.91[EUR][1000 genomes]
rs7840703	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv971698	chr8:124409783-124416455	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124409200-124415600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:124409400-124414000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:124409400-124415400	Weak transcription	Liver	Liver
4	chr8:124409400-124415800	Weak transcription	Fetal Intestine Large	intestine
5	chr8:124409400-124415800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:124409400-124419200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:124409400-124421400	Weak transcription	Right Ventricle	heart
8	chr8:124409400-124424800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:124409400-124427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:124409400-124427600	Weak transcription	A549	lung
11	chr8:124409400-124428000	Weak transcription	Brain Anterior Caudate	brain
12	chr8:124409600-124414800	Weak transcription	Fetal Heart	heart
13	chr8:124409600-124417800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:124409600-124424600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:124409600-124424800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:124409800-124415800	Weak transcription	Hela-S3	cervix
17	chr8:124409800-124424600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:124409800-124427800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:124410200-124414400	Weak transcription	Dnd41	blood
20	chr8:124413000-124414200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:124413200-124414400	Weak transcription	Fetal Stomach	stomach
22	chr8:124413400-124414600	Weak transcription	Gastric	stomach
23	chr8:124413400-124415600	Weak transcription	Esophagus	oesophagus
24	chr8:124413600-124414400	Weak transcription	HepG2	liver
25	chr8:124413600-124415800	Weak transcription	Pancreas	Pancrea
26	chr8:124413800-124414400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:124413800-124415800	Weak transcription	Fetal Intestine Small	intestine

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