Variant report

Variant	rs3107024
Chromosome Location	chr11:66202215-66202216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66200947..66202749-chr11:66204142..66205970,2	MCF-7	breast:
2	chr11:66187993..66190570-chr11:66199449..66203707,3	K562	blood:
3	chr11:66184274..66187220-chr11:66201977..66203892,2	K562	blood:
4	chr11:66188562..66190830-chr11:66202207..66204001,2	K562	blood:
5	chr11:66200896..66204077-chr11:66204378..66206381,3	K562	blood:

Variant related genes	Relation type
ENSG00000174547	Chromatin interaction
ENSG00000174576	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10736656	0.81[ASN][1000 genomes]
rs1671062	0.81[ASN][1000 genomes]
rs1671063	0.84[ASN][1000 genomes]
rs1671065	0.81[ASN][1000 genomes]
rs1700184	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1700189	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1791686	0.82[ASN][1000 genomes]
rs1791687	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2279863	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7925093	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7925108	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8432	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3107024	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs3107024	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs3107024	CTD-3074O7.5	cis	Whole Blood	GTEx
rs3107024	ACTN3	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66188800-66202600	Weak transcription	Esophagus	oesophagus
2	chr11:66188800-66205600	Weak transcription	Right Atrium	heart
3	chr11:66189000-66202400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:66189000-66202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:66189000-66204800	Weak transcription	Fetal Heart	heart
6	chr11:66189200-66202600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:66189200-66205600	Weak transcription	Stomach Mucosa	stomach
8	chr11:66189800-66202600	Weak transcription	Brain Anterior Caudate	brain
9	chr11:66190000-66202800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:66190200-66202400	Weak transcription	Brain Angular Gyrus	brain
11	chr11:66190200-66202600	Weak transcription	Pancreas	Pancrea
12	chr11:66190200-66205000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:66190400-66202600	Weak transcription	Spleen	Spleen
14	chr11:66190800-66202600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:66191400-66203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:66191600-66205600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:66191800-66202400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:66192200-66204400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:66192800-66202800	Weak transcription	Aorta	Aorta
20	chr11:66193400-66202600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:66193600-66202400	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:66194000-66202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:66194200-66202400	Weak transcription	Primary B cells from cord blood	blood
24	chr11:66194600-66202600	Weak transcription	Lung	lung
25	chr11:66194800-66202600	Weak transcription	A549	lung
26	chr11:66195000-66202600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:66195000-66202600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:66195000-66202800	Weak transcription	Fetal Lung	lung
29	chr11:66195600-66202600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:66196000-66202600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:66196000-66202600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:66196200-66202400	Weak transcription	Fetal Brain Female	brain
33	chr11:66196200-66202600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:66196400-66202600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:66196600-66202400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:66196600-66202400	Weak transcription	Placenta	Placenta
37	chr11:66196600-66202600	Weak transcription	NHEK	skin
38	chr11:66196800-66202400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:66196800-66202400	Weak transcription	Adipose Nuclei	Adipose
40	chr11:66196800-66202400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:66197000-66202600	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:66197200-66202400	Weak transcription	Primary T cells from cord blood	blood
43	chr11:66197200-66204400	Weak transcription	Fetal Brain Male	brain
44	chr11:66197400-66202400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:66197400-66202600	Weak transcription	Brain Substantia Nigra	brain
46	chr11:66197400-66202600	Weak transcription	Gastric	stomach
47	chr11:66197400-66203200	Weak transcription	Colonic Mucosa	Colon
48	chr11:66197600-66202400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:66197600-66202400	Weak transcription	Fetal Thymus	thymus
50	chr11:66197600-66202600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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