Variant report

Variant	rs1630251
Chromosome Location	chr11:75234976-75234977
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75108861..75111951-chr11:75234433..75238212,4	K562	blood:
2	chr11:75191661..75193541-chr11:75233272..75235307,2	K562	blood:
3	chr11:75045439..75047359-chr11:75234141..75236360,2	MCF-7	breast:
4	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:
5	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:

Variant related genes	Relation type
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000199090	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1557472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1557473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1631039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783552	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590260	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604252	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs607775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630776	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633602	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs634890	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs686084	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924708	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7934513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7949062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7949091	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75220400-75235200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr11:75229600-75235200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr11:75230800-75235400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:75232000-75235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:75232200-75235000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:75232200-75235600	Weak transcription	Right Atrium	heart
7	chr11:75232200-75236200	Weak transcription	Aorta	Aorta
8	chr11:75232400-75235200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:75233400-75235000	Enhancers	Spleen	Spleen
10	chr11:75233400-75235200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:75233400-75235400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:75233400-75235400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:75233600-75235200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:75233600-75235400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:75233600-75235600	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr11:75233800-75235000	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:75233800-75235000	Enhancers	Fetal Thymus	thymus
18	chr11:75233800-75235200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:75233800-75235200	Enhancers	HUVEC	blood vessel
20	chr11:75233800-75235400	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:75234000-75235000	Enhancers	GM12878-XiMat	blood
22	chr11:75234000-75235800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:75234200-75235400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:75234200-75235600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:75234200-75235800	Flanking Active TSS	HSMMtube	muscle
26	chr11:75234200-75236600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr11:75234400-75235200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr11:75234400-75235400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:75234400-75235400	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr11:75234400-75235400	Weak transcription	A549	lung
31	chr11:75234400-75235400	Enhancers	Dnd41	blood
32	chr11:75234400-75236000	Enhancers	Lung	lung
33	chr11:75234400-75236000	Flanking Active TSS	Pancreas	Pancrea
34	chr11:75234600-75235000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:75234600-75235000	Flanking Active TSS	HepG2	liver
36	chr11:75234600-75235200	Enhancers	Hela-S3	cervix
37	chr11:75234600-75235400	Enhancers	Brain Angular Gyrus	brain
38	chr11:75234600-75235800	Flanking Active TSS	Placenta	Placenta
39	chr11:75234600-75236600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr11:75234800-75235000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr11:75234800-75235000	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr11:75234800-75235200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:75234800-75235200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:75234800-75235400	Bivalent Enhancer	Fetal Brain Male	brain
45	chr11:75234800-75235600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:75234800-75235800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:75234800-75235800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:75234800-75235800	Enhancers	Psoas Muscle	Psoas
49	chr11:75234800-75236000	Enhancers	Liver	Liver
50	chr11:75234800-75236000	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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