Variant report

Variant	rs1557475
Chromosome Location	chr11:75232191-75232192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75201395..75203649-chr11:75230289..75232256,2	MCF-7	breast:
2	chr11:75109826..75112702-chr11:75229707..75232364,3	K562	blood:
3	chr11:75220615..75223491-chr11:75231021..75233361,2	MCF-7	breast:
4	chr11:75230382..75233335-chr11:75236668..75238207,2	MCF-7	breast:
5	chr11:75223800..75226938-chr11:75231769..75233776,3	MCF-7	breast:
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
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000158555	Chromatin interaction
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]
rs1619612	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1631013	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1783551	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790305	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1790307	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1793399	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1793400	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs587296	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs591627	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs618202	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs633186	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs662358	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71466372	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[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:47 , 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	chr11:75228600-75232800	Enhancers	Fetal Muscle Leg	muscle
7	chr11:75228600-75234400	Weak transcription	Lung	lung
8	chr11:75228800-75232200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:75228800-75234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:75229000-75233600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:75229000-75234400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:75229400-75233800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:75229400-75234200	Enhancers	HSMMtube	muscle
14	chr11:75229600-75235200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:75230000-75232600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:75230200-75232200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:75230200-75233400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:75230200-75233400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:75230200-75233400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:75230400-75233400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:75230400-75233800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:75230400-75233800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:75230400-75234000	Weak transcription	GM12878-XiMat	blood
24	chr11:75230600-75232800	Genic enhancers	HepG2	liver
25	chr11:75230600-75233600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:75230800-75232400	Enhancers	Psoas Muscle	Psoas
27	chr11:75230800-75235400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:75231000-75232400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:75231000-75232600	Enhancers	Liver	Liver
30	chr11:75231000-75234200	Enhancers	Adipose Nuclei	Adipose
31	chr11:75231200-75232600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:75231400-75232200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr11:75231400-75232200	Enhancers	Aorta	Aorta
34	chr11:75231400-75232400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:75231400-75234400	Enhancers	Pancreas	Pancrea
36	chr11:75231600-75232200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:75231600-75232400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr11:75231600-75232400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:75231600-75233200	Weak transcription	Fetal Brain Female	brain
40	chr11:75231600-75234600	Enhancers	Placenta	Placenta
41	chr11:75231800-75232200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:75231800-75232200	Enhancers	Right Atrium	heart
43	chr11:75231800-75232400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr11:75231800-75233200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:75232000-75233000	Enhancers	HSMM	muscle
46	chr11:75232000-75233400	Genic enhancers	Spleen	Spleen
47	chr11:75232000-75235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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