Variant report

Variant	rs603890
Chromosome Location	chr11:86222585-86222586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86221104..86225436-chr11:86225475..86228538,5	K562	blood:
2	chr11:86221748..86224210-chr11:86226851..86228577,2	MCF-7	breast:
3	chr11:86186448..86190207-chr11:86221573..86225734,3	K562	blood:
4	chr11:86222347..86226033-chr11:86510228..86514094,4	MCF-7	breast:
5	chr11:86221142..86225436-chr11:86225475..86228641,4	K562	blood:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10501620	0.83[AMR][1000 genomes]
rs1791443	0.88[ASN][1000 genomes]
rs1841066	0.82[ASN][1000 genomes]
rs2279046	0.82[ASN][1000 genomes]
rs2446226	0.82[ASN][1000 genomes]
rs2446228	0.88[ASN][1000 genomes]
rs2446229	0.84[ASN][1000 genomes]
rs2446231	0.86[ASN][1000 genomes]
rs2511090	0.86[ASN][1000 genomes]
rs498981	0.85[ASN][1000 genomes]
rs501362	0.83[ASN][1000 genomes]
rs502749	0.85[ASN][1000 genomes]
rs503583	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509870	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs511884	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs525764	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs531908	0.83[ASN][1000 genomes]
rs535652	0.97[ASN][1000 genomes]
rs553351	0.87[ASN][1000 genomes]
rs561237	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs582976	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs584068	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs585527	0.84[ASN][1000 genomes]
rs588287	0.97[ASN][1000 genomes]
rs589368	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs593853	0.84[ASN][1000 genomes]
rs594106	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs596056	0.86[ASN][1000 genomes]
rs597296	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597793	0.84[ASN][1000 genomes]
rs598187	0.84[ASN][1000 genomes]
rs601300	0.83[ASN][1000 genomes]
rs601824	0.86[ASN][1000 genomes]
rs605618	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs606546	0.82[ASN][1000 genomes]
rs609848	0.86[ASN][1000 genomes]
rs610842	0.89[ASN][1000 genomes]
rs612163	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613412	0.86[ASN][1000 genomes]
rs61598129	0.83[AMR][1000 genomes]
rs616018	0.85[ASN][1000 genomes]
rs61904415	0.97[ASN][1000 genomes]
rs619195	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619472	0.89[ASN][1000 genomes]
rs623478	0.86[ASN][1000 genomes]
rs624236	0.86[ASN][1000 genomes]
rs624843	0.89[ASN][1000 genomes]
rs624870	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs625925	0.86[ASN][1000 genomes]
rs628406	0.97[ASN][1000 genomes]
rs628449	0.83[ASN][1000 genomes]
rs630438	0.88[ASN][1000 genomes]
rs632538	0.82[ASN][1000 genomes]
rs634509	0.82[ASN][1000 genomes]
rs635934	0.86[ASN][1000 genomes]
rs636485	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638041	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638135	0.94[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs640310	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642278	0.82[ASN][1000 genomes]
rs643950	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs644086	0.87[ASN][1000 genomes]
rs646691	0.86[ASN][1000 genomes]
rs646798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648798	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs653779	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655868	0.96[ASN][1000 genomes]
rs655934	0.85[ASN][1000 genomes]
rs658166	0.86[ASN][1000 genomes]
rs659405	0.81[ASN][1000 genomes]
rs659700	0.87[ASN][1000 genomes]
rs660893	0.80[ASN][1000 genomes]
rs661083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662361	0.82[ASN][1000 genomes]
rs663262	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs668270	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670602	0.88[ASN][1000 genomes]
rs674250	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677700	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs679076	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs679382	0.86[ASN][1000 genomes]
rs680846	0.96[ASN][1000 genomes]
rs681158	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687804	0.85[ASN][1000 genomes]
rs689039	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs694952	0.86[ASN][1000 genomes]
rs7130920	0.85[ASN][1000 genomes]
rs9645702	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
4	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
5	chr11:86209200-86223600	Weak transcription	Brain Angular Gyrus	brain
6	chr11:86209200-86226600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:86211400-86222800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:86211600-86229800	Weak transcription	Brain Anterior Caudate	brain
9	chr11:86215000-86229800	Weak transcription	Lung	lung
10	chr11:86215200-86222600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:86215200-86223400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:86215200-86226400	Weak transcription	Spleen	Spleen
13	chr11:86215400-86223400	Weak transcription	Fetal Kidney	kidney
14	chr11:86215400-86225000	Weak transcription	Psoas Muscle	Psoas
15	chr11:86215800-86230000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:86216000-86222600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:86216800-86222800	Enhancers	Fetal Intestine Large	intestine
18	chr11:86217200-86223000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:86217600-86226600	Weak transcription	Aorta	Aorta
20	chr11:86218000-86228000	Weak transcription	Fetal Brain Female	brain
21	chr11:86218200-86227800	Weak transcription	Fetal Brain Male	brain
22	chr11:86218600-86225200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:86218600-86226400	Weak transcription	Fetal Stomach	stomach
24	chr11:86218600-86227800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:86218600-86229600	Weak transcription	Brain Germinal Matrix	brain
26	chr11:86219000-86222800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:86219200-86222800	Enhancers	HMEC	breast
28	chr11:86219200-86223000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:86219200-86223200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:86219400-86223200	Enhancers	Osteobl	bone
31	chr11:86219600-86222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:86219600-86222800	Enhancers	NHDF-Ad	bronchial
33	chr11:86220000-86230600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:86220200-86225600	Enhancers	Stomach Mucosa	stomach
35	chr11:86220400-86226600	Weak transcription	Left Ventricle	heart
36	chr11:86220600-86223600	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:86220800-86222600	Enhancers	A549	lung
38	chr11:86221000-86222600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:86221200-86223200	Enhancers	NH-A	brain
40	chr11:86221200-86223800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:86221200-86224400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:86221400-86222600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:86221600-86222600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:86221600-86222600	Enhancers	Fetal Heart	heart
45	chr11:86221600-86222600	Enhancers	HSMM	muscle
46	chr11:86221600-86222800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:86221600-86222800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr11:86221600-86223200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:86221600-86223200	Enhancers	K562	blood
50	chr11:86221800-86222600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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