Variant report

Variant	rs1619612
Chromosome Location	chr11:75233878-75233879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75232287..75234755-chr11:75237989..75239575,2	MCF-7	breast:
2	chr11:75218684..75220369-chr11:75232244..75234821,2	K562	blood:
3	chr11:75191661..75193541-chr11:75233272..75235307,2	K562	blood:
4	chr11:75224068..75229006-chr11:75230364..75234823,7	K562	blood:
5	chr11:75217621..75220369-chr11:75231791..75234821,5	K562	blood:

Variant related genes	Relation type
ENSG00000254460	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11236448	0.89[EUR][1000 genomes]
rs12361128	0.89[EUR][1000 genomes]
rs1557475	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1631013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783551	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790305	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790307	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1793399	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1793400	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs587296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591627	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618202	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs633186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs662358	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71466372	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75217800-75234800	Weak transcription	Ovary	ovary
2	chr11:75220400-75235200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:75227800-75234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:75227800-75234400	Enhancers	Fetal Intestine Large	intestine
5	chr11:75228600-75234400	Weak transcription	Lung	lung
6	chr11:75228800-75234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:75229000-75234400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:75229400-75234200	Enhancers	HSMMtube	muscle
9	chr11:75229600-75235200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr11:75230400-75234000	Weak transcription	GM12878-XiMat	blood
11	chr11:75230800-75235400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:75231000-75234200	Enhancers	Adipose Nuclei	Adipose
13	chr11:75231400-75234400	Enhancers	Pancreas	Pancrea
14	chr11:75231600-75234600	Enhancers	Placenta	Placenta
15	chr11:75232000-75235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:75232200-75235000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:75232200-75235600	Weak transcription	Right Atrium	heart
18	chr11:75232200-75236200	Weak transcription	Aorta	Aorta
19	chr11:75232400-75234600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:75232400-75234600	Weak transcription	Hela-S3	cervix
21	chr11:75232400-75234800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:75232400-75234800	Weak transcription	Psoas Muscle	Psoas
23	chr11:75232400-75235200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:75232600-75234800	Weak transcription	Liver	Liver
25	chr11:75232800-75234600	Transcr. at gene 5' and 3'	HepG2	liver
26	chr11:75233000-75234200	Weak transcription	HSMM	muscle
27	chr11:75233000-75234400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr11:75233000-75234600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr11:75233200-75234000	Enhancers	Fetal Brain Male	brain
30	chr11:75233400-75234000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:75233400-75234600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:75233400-75234800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr11:75233400-75235000	Enhancers	Spleen	Spleen
34	chr11:75233400-75235200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr11:75233400-75235400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:75233400-75235400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:75233600-75234000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:75233600-75234000	Enhancers	Fetal Brain Female	brain
39	chr11:75233600-75235200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr11:75233600-75235400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:75233600-75235600	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr11:75233800-75234000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr11:75233800-75234000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
44	chr11:75233800-75234000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr11:75233800-75234000	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr11:75233800-75234400	Enhancers	A549	lung
47	chr11:75233800-75234800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:75233800-75235000	Enhancers	Primary B cells from peripheral blood	blood
49	chr11:75233800-75235000	Enhancers	Fetal Thymus	thymus
50	chr11:75233800-75235200	Enhancers	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links