Variant report

Variant	rs72934673
Chromosome Location	chr11:65899024-65899025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65892293..65894742-chr11:65895992..65899282,4	K562	blood:
2	chr11:65836793..65839673-chr11:65898848..65900724,2	MCF-7	breast:
3	chr11:65896592..65899569-chr11:65899884..65901389,2	K562	blood:
4	chr11:65659026..65661070-chr11:65896496..65899355,2	K562	blood:
5	chr11:65834370..65841898-chr11:65897925..65905090,13	MCF-7	breast:
6	chr11:65879258..65881165-chr11:65898106..65900778,2	K562	blood:
7	chr11:65890715..65892805-chr11:65898976..65901084,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175115	Chromatin interaction
ENSG00000255038	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1211863	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452683	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930174	1.00[EUR][1000 genomes]
rs4930341	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57287207	1.00[ASN][1000 genomes]
rs57720880	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58583648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59807152	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59827057	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60095752	1.00[ASN][1000 genomes]
rs60415795	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591205	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591206	1.00[ASN][1000 genomes]
rs7103495	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72932629	1.00[ASN][1000 genomes]
rs72932698	1.00[ASN][1000 genomes]
rs72934614	1.00[EUR][1000 genomes]
rs72934624	1.00[EUR][1000 genomes]
rs72934632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934642	1.00[EUR][1000 genomes]
rs72934655	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72934666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934668	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934677	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72936625	0.96[EUR][1000 genomes]
rs7950327	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
2	chr11:65887200-65900400	Weak transcription	Fetal Brain Male	brain
3	chr11:65888400-65909800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:65894200-65904000	Weak transcription	HepG2	liver
5	chr11:65894400-65904600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:65894400-65909000	Weak transcription	K562	blood
7	chr11:65894600-65900800	Weak transcription	Fetal Intestine Small	intestine
8	chr11:65894600-65901800	Weak transcription	Hela-S3	cervix
9	chr11:65894800-65901000	Weak transcription	Fetal Brain Female	brain
10	chr11:65894800-65901200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:65894800-65902600	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:65894800-65912200	Weak transcription	Thymus	Thymus
13	chr11:65895000-65900800	Weak transcription	Gastric	stomach
14	chr11:65895000-65901200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:65895000-65901400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:65895000-65909200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:65895000-65913800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:65895000-65917600	Weak transcription	HSMM	muscle
19	chr11:65895200-65899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:65895200-65900200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:65895200-65900600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:65895200-65900800	Weak transcription	Right Atrium	heart
23	chr11:65895200-65901000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:65895200-65901200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr11:65895200-65903000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:65895200-65903400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:65895200-65904600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:65895200-65905000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:65895200-65905000	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:65895200-65905000	Weak transcription	Right Ventricle	heart
31	chr11:65895200-65907600	Weak transcription	Pancreas	Pancrea
32	chr11:65895200-65912200	Weak transcription	Lung	lung
33	chr11:65895200-65913000	Weak transcription	Psoas Muscle	Psoas
34	chr11:65895400-65899400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:65895400-65899400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:65895400-65900200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:65895400-65900800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:65895400-65901800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:65895400-65904200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:65895400-65905000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:65895400-65909400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:65895400-65910200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:65895600-65899400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:65895600-65899800	Weak transcription	Fetal Heart	heart
45	chr11:65895600-65909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:65895600-65909800	Weak transcription	NHEK	skin
47	chr11:65896200-65902000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:65896400-65901800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:65896600-65901800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:65896600-65907800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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