Variant report

Variant	rs12275690
Chromosome Location	chr11:75233141-75233142
allele	A/G
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	chr11:75220615..75223491-chr11:75231021..75233361,2	MCF-7	breast:
3	chr11:75230382..75233335-chr11:75236668..75238207,2	MCF-7	breast:
4	chr11:75223800..75226938-chr11:75231769..75233776,3	MCF-7	breast:
5	chr11:75218684..75220369-chr11:75232244..75234821,2	K562	blood:
6	chr11:75224068..75229006-chr11:75230364..75234823,7	K562	blood:
7	chr11:75217621..75220369-chr11:75231791..75234821,5	K562	blood:

Variant related genes	Relation type
ENSG00000254460	Chromatin interaction
ENSG00000158555	Chromatin interaction

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

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

rs_ID	r²[population]
rs11236424	1.00[AMR][1000 genomes]
rs11236425	1.00[AMR][1000 genomes]
rs11236426	1.00[AMR][1000 genomes]
rs11236443	1.00[AMR][1000 genomes]
rs11236446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272513	1.00[AMR][1000 genomes]
rs12274327	1.00[AMR][1000 genomes]
rs12277069	1.00[AMR][1000 genomes]
rs12277708	1.00[AMR][1000 genomes]
rs12281974	1.00[AMR][1000 genomes]
rs12286009	1.00[AMR][1000 genomes]
rs12288089	1.00[AMR][1000 genomes]
rs12289922	1.00[AMR][1000 genomes]
rs12292511	1.00[AMR][1000 genomes]
rs12292958	1.00[AMR][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75216200-75233600	Genic enhancers	Fetal Intestine Small	intestine
2	chr11:75217800-75234800	Weak transcription	Ovary	ovary
3	chr11:75220400-75235200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:75227800-75234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:75227800-75234400	Enhancers	Fetal Intestine Large	intestine
6	chr11:75228600-75234400	Weak transcription	Lung	lung
7	chr11:75228800-75234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:75229000-75233600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:75229000-75234400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:75229400-75233800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:75229400-75234200	Enhancers	HSMMtube	muscle
12	chr11:75229600-75235200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:75230200-75233400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:75230200-75233400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:75230200-75233400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:75230400-75233400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:75230400-75233800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:75230400-75233800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:75230400-75234000	Weak transcription	GM12878-XiMat	blood
20	chr11:75230600-75233600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:75230800-75235400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:75231000-75234200	Enhancers	Adipose Nuclei	Adipose
23	chr11:75231400-75234400	Enhancers	Pancreas	Pancrea
24	chr11:75231600-75233200	Weak transcription	Fetal Brain Female	brain
25	chr11:75231600-75234600	Enhancers	Placenta	Placenta
26	chr11:75231800-75233200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:75232000-75233400	Genic enhancers	Spleen	Spleen
28	chr11:75232000-75235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:75232200-75233400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:75232200-75233600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:75232200-75235000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:75232200-75235600	Weak transcription	Right Atrium	heart
33	chr11:75232200-75236200	Weak transcription	Aorta	Aorta
34	chr11:75232400-75234600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:75232400-75234600	Weak transcription	Hela-S3	cervix
36	chr11:75232400-75234800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:75232400-75234800	Weak transcription	Psoas Muscle	Psoas
38	chr11:75232400-75235200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:75232600-75233800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:75232600-75234800	Weak transcription	Liver	Liver
41	chr11:75232800-75234600	Transcr. at gene 5' and 3'	HepG2	liver
42	chr11:75233000-75233200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:75233000-75234200	Weak transcription	HSMM	muscle
44	chr11:75233000-75234400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr11:75233000-75234600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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