Variant report

Variant	rs608504
Chromosome Location	chr11:66309925-66309926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66309905-66309930	MCF-7	breast:	n/a	n/a
2	FOS	chr11:66309921-66310105	MCF10A-Er-Src	breast:	n/a	chr11:66310039-66310049 chr11:66310039-66310049 chr11:66310039-66310049 chr11:66310039-66310048 chr11:66310039-66310049
3	POLR2A	chr11:66308927-66310113	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66309086..66311433-chr11:66555544..66558511,2	K562	blood:
2	chr11:66304927..66310447-chr11:66310654..66314937,8	MCF-7	breast:
3	chr11:66297799..66301066-chr11:66306778..66311237,4	K562	blood:
4	chr11:66309047..66311384-chr11:66342148..66345525,3	K562	blood:

Variant related genes	Relation type
ACTN3	TF binding region
ENSG00000269990	TF binding region
ENSG00000173715	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000248746	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1791682	0.87[EUR][1000 genomes]
rs73503363	0.83[EUR][1000 genomes]
rs73503368	0.88[EUR][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	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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 miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs608504	CTD-3074O7.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66278600-66311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66278800-66312800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
4	chr11:66279200-66310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:66279400-66311000	Weak transcription	Fetal Brain Male	brain
8	chr11:66279400-66311200	Weak transcription	Right Atrium	heart
9	chr11:66281000-66311000	Strong transcription	Fetal Stomach	stomach
10	chr11:66283400-66312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:66289000-66312800	Weak transcription	Stomach Mucosa	stomach
12	chr11:66290200-66310800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:66291200-66311600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:66291400-66311000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:66291600-66312600	Weak transcription	NHEK	skin
16	chr11:66293600-66311000	Strong transcription	Fetal Intestine Small	intestine
17	chr11:66294800-66312400	Weak transcription	Hela-S3	cervix
18	chr11:66296200-66311200	Weak transcription	Fetal Kidney	kidney
19	chr11:66299200-66311200	Weak transcription	Fetal Lung	lung
20	chr11:66301800-66310200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:66302200-66310000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:66302200-66310200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:66302400-66312800	Weak transcription	K562	blood
24	chr11:66302600-66310600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:66302800-66310000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr11:66302800-66310800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:66302800-66310800	Strong transcription	Thymus	Thymus
28	chr11:66303000-66310800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:66303200-66310000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:66303200-66310800	Strong transcription	Brain Cingulate Gyrus	brain
31	chr11:66303200-66311000	Strong transcription	Liver	Liver
32	chr11:66303200-66311000	Strong transcription	Placenta	Placenta
33	chr11:66303400-66310200	Strong transcription	Adipose Nuclei	Adipose
34	chr11:66303400-66311200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:66303800-66311000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:66303800-66312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:66304800-66310400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:66305800-66310200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:66305800-66310600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:66305800-66310800	Strong transcription	Fetal Thymus	thymus
41	chr11:66306000-66310400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:66306000-66310400	Strong transcription	Fetal Intestine Large	intestine
43	chr11:66306000-66310600	Strong transcription	Brain Anterior Caudate	brain
44	chr11:66306000-66310800	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:66306000-66311000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:66306000-66311200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:66306000-66311200	Strong transcription	Brain Hippocampus Middle	brain
48	chr11:66306200-66310400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:66306200-66310400	Strong transcription	Primary T cells from cord blood	blood
50	chr11:66306200-66310400	Strong transcription	Duodenum Mucosa	Duodenum

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