Variant report

Variant	rs67202221
Chromosome Location	chr8:66559229-66559230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66544310..66548208-chr8:66554670..66559350,8	MCF-7	breast:
2	chr8:66557768..66559368-chr8:66571050..66573151,2	K562	blood:
3	chr8:66543941..66549000-chr8:66554498..66559366,10	MCF-7	breast:
4	chr8:66557301..66560077-chr8:66580234..66581875,2	K562	blood:
5	chr8:66556961..66558748-chr8:66559228..66561370,2	K562	blood:
6	chr8:66557005..66560077-chr8:66579109..66581875,3	K562	blood:
7	chr8:66557149..66559790-chr8:66561450..66563071,2	K562	blood:

Variant related genes	Relation type
ENSG00000104442	Chromatin interaction
ENSG00000066855	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10089708	0.85[AFR][1000 genomes]
rs1022253	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1022254	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995337	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932286	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16932294	1.00[ASN][1000 genomes]
rs17303905	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394924	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2175810	0.85[AFR][1000 genomes]
rs2357478	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35524385	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41343545	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497004	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56698878	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57220512	0.90[ASN][1000 genomes]
rs57962817	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58398396	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58594670	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60824178	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66773449	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66817670	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66820398	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66824691	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66901832	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66908793	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67125822	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67362541	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67433957	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67445866	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67514002	1.00[ASN][1000 genomes]
rs67578481	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67669255	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67686346	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67692803	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827113	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68075342	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68087267	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68167505	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991669	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991731	0.85[AFR][1000 genomes]
rs7002171	1.00[ASN][1000 genomes]
rs7002494	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7002953	1.00[ASN][1000 genomes]
rs72666512	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72666522	1.00[ASN][1000 genomes]
rs72666525	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239047	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73239052	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239095	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240732	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463538	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825615	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842162	0.86[AFR][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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66557800-66559400	Enhancers	Primary T cells from cord blood	blood
2	chr8:66557800-66559400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr8:66557800-66564400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:66558000-66559400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:66558000-66559400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:66558000-66559600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:66558000-66559600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:66558000-66559600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:66558000-66561000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:66558000-66564200	Weak transcription	Psoas Muscle	Psoas
11	chr8:66558000-66565000	Weak transcription	Pancreas	Pancrea
12	chr8:66558000-66565200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:66558000-66567000	Weak transcription	Gastric	stomach
14	chr8:66558000-66567200	Weak transcription	Adipose Nuclei	Adipose
15	chr8:66558000-66567400	Weak transcription	Ovary	ovary
16	chr8:66558000-66568800	Weak transcription	Fetal Intestine Small	intestine
17	chr8:66558000-66569400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:66558000-66569600	Weak transcription	Esophagus	oesophagus
19	chr8:66558000-66571000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:66558000-66571000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:66558000-66571000	Weak transcription	Fetal Lung	lung
22	chr8:66558000-66571000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:66558000-66571000	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:66558000-66571000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:66558000-66571000	Weak transcription	Thymus	Thymus
26	chr8:66558000-66571000	Weak transcription	HSMMtube	muscle
27	chr8:66558000-66571000	Weak transcription	NH-A	brain
28	chr8:66558000-66571200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:66558000-66571200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:66558000-66571600	Weak transcription	Lung	lung
31	chr8:66558000-66582400	Weak transcription	Placenta	Placenta
32	chr8:66558000-66583400	Weak transcription	Aorta	Aorta
33	chr8:66558000-66585200	Weak transcription	Left Ventricle	heart
34	chr8:66558200-66559400	Enhancers	Liver	Liver
35	chr8:66558200-66559400	Enhancers	Hela-S3	cervix
36	chr8:66558200-66559600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:66558200-66559600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:66558200-66560000	Enhancers	HepG2	liver
39	chr8:66558200-66562200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:66558200-66569600	Weak transcription	Fetal Stomach	stomach
41	chr8:66558200-66570600	Weak transcription	Fetal Intestine Large	intestine
42	chr8:66558200-66570800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:66558200-66570800	Weak transcription	Primary B cells from cord blood	blood
44	chr8:66558200-66570800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:66558200-66571000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:66558200-66571000	Weak transcription	HSMM	muscle
47	chr8:66558200-66571200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:66558200-66573600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:66558400-66559400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:66558400-66559800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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