Variant report

Variant	rs2444846
Chromosome Location	chr11:66266706-66266707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66264275..66266949-chr11:66272534..66274982,2	MCF-7	breast:
2	chr11:66265435..66267846-chr11:66311970..66313720,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174165	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10736656	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1671062	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1671063	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1671065	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1700189	0.86[AMR][1000 genomes]
rs1791686	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2279863	0.84[AMR][1000 genomes]
rs7925093	0.80[AMR][1000 genomes]
rs7925108	0.80[AMR][1000 genomes]
rs8432	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2444846	CTD-3074O7.5	cis	Whole Blood	GTEx
rs2444846	ACTN3	cis	Muscle Skeletal	GTEx
rs2444846	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs2444846	CCS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66248600-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:66248600-66277600	Weak transcription	Fetal Brain Male	brain
3	chr11:66248600-66277600	Weak transcription	Fetal Lung	lung
4	chr11:66248600-66278000	Weak transcription	NHDF-Ad	bronchial
5	chr11:66248800-66277600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:66248800-66277600	Weak transcription	K562	blood
7	chr11:66249600-66266800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:66249600-66268200	Strong transcription	Thymus	Thymus
9	chr11:66249600-66268400	Strong transcription	Adipose Nuclei	Adipose
10	chr11:66249800-66267000	Strong transcription	Spleen	Spleen
11	chr11:66249800-66268800	Strong transcription	Fetal Thymus	thymus
12	chr11:66249800-66268800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr11:66249800-66273200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:66250000-66268400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:66250200-66268400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:66250200-66268400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:66250400-66268200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:66250600-66268800	Strong transcription	Liver	Liver
19	chr11:66250800-66268200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:66251200-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:66251400-66269000	Strong transcription	Fetal Brain Female	brain
22	chr11:66251800-66268400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:66251800-66274600	Strong transcription	Fetal Stomach	stomach
24	chr11:66252200-66268800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:66252600-66268400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:66252800-66268000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:66252800-66268400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:66253000-66267200	Strong transcription	Brain Hippocampus Middle	brain
29	chr11:66254400-66272600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:66254800-66269000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:66255400-66268800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:66255800-66277800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:66259000-66266800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:66259000-66267000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:66259000-66267200	Strong transcription	Brain Germinal Matrix	brain
36	chr11:66259000-66269200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:66259200-66266800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:66259400-66268200	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr11:66259600-66267000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:66259600-66270600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:66259600-66277600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:66260000-66266800	Strong transcription	Brain Anterior Caudate	brain
43	chr11:66260000-66268400	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:66260600-66268200	Strong transcription	Primary T cells from cord blood	blood
45	chr11:66260600-66268400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:66260600-66268800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:66261000-66271800	Weak transcription	Left Ventricle	heart
48	chr11:66261000-66272000	Weak transcription	HUVEC	blood vessel
49	chr11:66261000-66272600	Weak transcription	HSMM	muscle
50	chr11:66261000-66277800	Weak transcription	Psoas Muscle	Psoas

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