Variant report

Variant	rs55984423
Chromosome Location	chr11:75596993-75596994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75523671..75525625-chr11:75596243..75598706,2	MCF-7	breast:
2	chr11:75596310..75598967-chr11:75601075..75603866,2	K562	blood:
3	chr11:75593236..75595084-chr11:75596698..75599353,2	K562	blood:

Variant related genes	Relation type
ENSG00000255507	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs55758113	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55916175	0.85[AMR][1000 genomes]
rs56174731	0.85[AMR][1000 genomes]
rs56709863	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58442571	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58700432	0.85[AMR][1000 genomes]
rs59330958	0.85[AMR][1000 genomes]
rs59337469	0.85[AMR][1000 genomes]
rs59790182	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60012502	0.85[AMR][1000 genomes]
rs60178265	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60331805	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60369507	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60594722	0.85[AMR][1000 genomes]
rs61338611	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7119278	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7119400	0.89[AFR][1000 genomes]
rs73491754	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491758	0.87[AMR][1000 genomes]
rs73491761	0.82[AFR][1000 genomes]
rs73491770	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491773	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73491786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491787	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73491790	0.85[AMR][1000 genomes]
rs73491799	0.85[AMR][1000 genomes]
rs73491800	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73491802	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73493917	0.85[AMR][1000 genomes]
rs7933675	0.85[AFR][1000 genomes]
rs7939821	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945859	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv515973	chr11:75569267-75832315	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75547600-75600000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:75549800-75602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:75553800-75600800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:75558400-75602800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:75562600-75630400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:75562800-75610800	Weak transcription	HSMMtube	muscle
7	chr11:75570000-75610600	Weak transcription	NHDF-Ad	bronchial
8	chr11:75570200-75600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:75570200-75610400	Weak transcription	Osteobl	bone
10	chr11:75571800-75603200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:75572600-75603200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:75574200-75603200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:75576000-75603000	Weak transcription	Hela-S3	cervix
14	chr11:75579200-75610000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:75580400-75610800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:75580800-75603200	Weak transcription	Fetal Kidney	kidney
17	chr11:75581000-75599800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:75582200-75600600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:75584600-75624200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:75585000-75603200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:75585000-75610000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:75585000-75628400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:75585200-75599200	Weak transcription	Small Intestine	intestine
24	chr11:75585200-75600200	Weak transcription	Fetal Thymus	thymus
25	chr11:75585200-75601600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:75585200-75602800	Weak transcription	Lung	lung
27	chr11:75585200-75602800	Weak transcription	Spleen	Spleen
28	chr11:75585200-75603400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:75585200-75603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:75585200-75605200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:75585400-75605000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:75586600-75615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:75586600-75676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:75587000-75602400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:75587200-75598000	Weak transcription	Left Ventricle	heart
36	chr11:75587400-75621600	Weak transcription	Ovary	ovary
37	chr11:75587600-75614600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:75587600-75631600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:75587800-75602600	Weak transcription	HepG2	liver
40	chr11:75587800-75603000	Weak transcription	K562	blood
41	chr11:75589600-75635800	Weak transcription	NHEK	skin
42	chr11:75589800-75597200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr11:75590000-75601400	Weak transcription	Fetal Intestine Large	intestine
44	chr11:75590400-75610600	Weak transcription	Fetal Lung	lung
45	chr11:75590600-75601800	Weak transcription	Right Ventricle	heart
46	chr11:75590600-75605800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:75590800-75603200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:75590800-75604600	Weak transcription	NH-A	brain
49	chr11:75590800-75627000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:75591000-75600600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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