Variant report

Variant	rs548435
Chromosome Location	chr11:65783714-65783715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65771026..65774019-chr11:65782878..65784960,2	MCF-7	breast:
2	chr11:65782632..65785279-chr11:66024917..66027349,2	MCF-7	breast:
3	chr11:65783111..65785953-chr11:65787556..65789065,2	K562	blood:
4	chr11:65780649..65783922-chr11:65810860..65813653,4	MCF-7	breast:
5	chr11:65780844..65784041-chr11:65834496..65838705,4	MCF-7	breast:
6	chr11:65781033..65783841-chr11:65908931..65911172,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1151510	0.83[EUR][1000 genomes]
rs1151514	0.83[EUR][1000 genomes]
rs1191716	0.83[EUR][1000 genomes]
rs1192184	0.82[EUR][1000 genomes]
rs1204011	0.83[EUR][1000 genomes]
rs1786171	0.93[EUR][1000 genomes]
rs1786172	0.83[EUR][1000 genomes]
rs1786174	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs502363	0.83[EUR][1000 genomes]
rs506873	0.83[EUR][1000 genomes]
rs507672	0.83[EUR][1000 genomes]
rs522553	0.83[EUR][1000 genomes]
rs534201	0.82[EUR][1000 genomes]
rs540584	0.82[EUR][1000 genomes]
rs543952	0.83[EUR][1000 genomes]
rs548495	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549334	0.83[EUR][1000 genomes]
rs559161	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs586921	0.83[EUR][1000 genomes]
rs590531	0.83[EUR][1000 genomes]
rs610497	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs615646	0.83[EUR][1000 genomes]
rs619701	0.83[EUR][1000 genomes]
rs622779	0.83[EUR][1000 genomes]
rs632640	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs645571	0.83[EUR][1000 genomes]
rs668210	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs677350	0.82[EUR][1000 genomes]
rs684546	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs685334	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7933510	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65780800-65784000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:65780800-65788600	Weak transcription	NHEK	skin
3	chr11:65781200-65787600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:65781200-65788200	Weak transcription	Esophagus	oesophagus
5	chr11:65781400-65787200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:65782200-65783800	Enhancers	Spleen	Spleen
7	chr11:65782200-65784200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:65782200-65784200	Flanking Active TSS	Hela-S3	cervix
9	chr11:65782200-65784200	Enhancers	HMEC	breast
10	chr11:65782200-65784200	Enhancers	HUVEC	blood vessel
11	chr11:65782200-65784400	Enhancers	NHDF-Ad	bronchial
12	chr11:65782400-65783800	Enhancers	NH-A	brain
13	chr11:65782400-65784000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:65782400-65784200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:65782400-65784200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:65782400-65784200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:65782400-65784200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:65782400-65784400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr11:65782400-65784400	Enhancers	Fetal Heart	heart
20	chr11:65782400-65784600	Enhancers	Fetal Muscle Leg	muscle
21	chr11:65782600-65783800	Enhancers	Right Atrium	heart
22	chr11:65782600-65784000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:65782600-65784400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:65782600-65784400	Enhancers	Fetal Muscle Trunk	muscle
25	chr11:65782600-65784600	Flanking Active TSS	HSMM	muscle
26	chr11:65782600-65789800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:65782800-65783800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr11:65782800-65784000	Enhancers	Placenta	Placenta
29	chr11:65782800-65784200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:65782800-65784200	Enhancers	Adipose Nuclei	Adipose
31	chr11:65782800-65784200	Enhancers	Right Ventricle	heart
32	chr11:65783000-65787600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:65783200-65787800	Weak transcription	NHLF	lung
34	chr11:65783200-65788000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:65783200-65788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:65783400-65783800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:65783400-65783800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:65783400-65784400	Flanking Active TSS	HSMMtube	muscle
39	chr11:65783400-65787400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:65783400-65788200	Weak transcription	A549	lung
41	chr11:65783400-65788600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:65783400-65811200	Weak transcription	Aorta	Aorta
43	chr11:65783600-65784400	Enhancers	Osteobl	bone
44	chr11:65783600-65786800	Enhancers	K562	blood
45	chr11:65783600-65788400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:65783600-65788600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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