Variant report

Variant	rs1557472
Chromosome Location	chr11:75234792-75234793
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	chr11:75218684..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	chr11:75045439..75047359-chr11:75234141..75236360,2	MCF-7	breast:
6	chr11:75217621..75220369-chr11:75231791..75234821,5	K562	blood:
7	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000199090	Chromatin interaction
ENSG00000254460	Chromatin interaction

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

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

rs_ID	r²[population]
rs1557473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1630251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1631039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1783552	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs590260	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs600867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs604252	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs607775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs614227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs615983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs616422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs630776	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs633602	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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];0.86[ASN][1000 genomes]
rs686084	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924708	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7934513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7949062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7949091	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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:51 , 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	chr11:75228800-75234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:75229600-75235200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr11:75230800-75235400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:75232000-75235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:75232200-75235000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:75232200-75235600	Weak transcription	Right Atrium	heart
9	chr11:75232200-75236200	Weak transcription	Aorta	Aorta
10	chr11:75232400-75234800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:75232400-75234800	Weak transcription	Psoas Muscle	Psoas
12	chr11:75232400-75235200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:75232600-75234800	Weak transcription	Liver	Liver
14	chr11:75233400-75234800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr11:75233400-75235000	Enhancers	Spleen	Spleen
16	chr11:75233400-75235200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr11:75233400-75235400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:75233400-75235400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:75233600-75235200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr11:75233600-75235400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:75233600-75235600	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr11:75233800-75234800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:75233800-75235000	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:75233800-75235000	Enhancers	Fetal Thymus	thymus
25	chr11:75233800-75235200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr11:75233800-75235200	Enhancers	HUVEC	blood vessel
27	chr11:75233800-75235400	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:75234000-75235000	Enhancers	GM12878-XiMat	blood
29	chr11:75234000-75235800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:75234200-75234800	Active TSS	Fetal Brain Female	brain
31	chr11:75234200-75234800	Enhancers	HSMM	muscle
32	chr11:75234200-75235400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:75234200-75235600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:75234200-75235800	Flanking Active TSS	HSMMtube	muscle
35	chr11:75234200-75236600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:75234400-75235200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr11:75234400-75235400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:75234400-75235400	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr11:75234400-75235400	Weak transcription	A549	lung
40	chr11:75234400-75235400	Enhancers	Dnd41	blood
41	chr11:75234400-75236000	Enhancers	Lung	lung
42	chr11:75234400-75236000	Flanking Active TSS	Pancreas	Pancrea
43	chr11:75234600-75234800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:75234600-75234800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:75234600-75234800	Active TSS	Fetal Intestine Small	intestine
46	chr11:75234600-75235000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:75234600-75235000	Flanking Active TSS	HepG2	liver
48	chr11:75234600-75235200	Enhancers	Hela-S3	cervix
49	chr11:75234600-75235400	Enhancers	Brain Angular Gyrus	brain
50	chr11:75234600-75235800	Flanking Active TSS	Placenta	Placenta

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