Variant report

Variant	rs548344
Chromosome Location	chr11:66451563-66451564
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66445090..66448059-chr11:66449864..66453256,5	K562	blood:
2	chr11:66451468..66453331-chr11:66494123..66495829,2	MCF-7	breast:
3	chr11:66444892..66446996-chr11:66448996..66453330,4	MCF-7	breast:
4	chr11:66449459..66452348-chr11:66452621..66454965,2	K562	blood:
5	chr11:66450885..66452663-chr11:66600474..66602578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173914	Chromatin interaction
ENSG00000173898	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11227537	1.00[AMR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1700188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1791677	1.00[EUR][1000 genomes]
rs45620032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930388	1.00[AMR][1000 genomes]
rs495264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs580850	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs670900	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71457730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs908693	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66445600-66452400	Weak transcription	Spleen	Spleen
2	chr11:66446000-66452200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:66446000-66455800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:66446000-66457400	Weak transcription	Gastric	stomach
5	chr11:66446200-66451600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:66446200-66451800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:66446200-66451800	Weak transcription	NHEK	skin
8	chr11:66446200-66452200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:66446200-66452200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:66446200-66452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:66446200-66452200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:66446200-66452400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:66446200-66452600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:66446200-66452600	Weak transcription	Fetal Stomach	stomach
15	chr11:66446200-66452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:66446200-66453000	Weak transcription	Brain Anterior Caudate	brain
17	chr11:66446200-66453200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:66446200-66453400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:66446200-66453400	Weak transcription	Pancreas	Pancrea
20	chr11:66446200-66453600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:66446200-66453800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:66446200-66454400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:66446200-66456800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:66446200-66457200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:66446200-66457800	Weak transcription	Brain Angular Gyrus	brain
26	chr11:66446200-66458800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:66446200-66461400	Weak transcription	K562	blood
28	chr11:66446200-66461800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:66446200-66465800	Weak transcription	A549	lung
30	chr11:66446200-66468000	Weak transcription	Lung	lung
31	chr11:66446200-66468600	Weak transcription	Right Ventricle	heart
32	chr11:66446200-66480200	Weak transcription	Fetal Kidney	kidney
33	chr11:66446200-66485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:66446400-66453600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:66446400-66457400	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:66446400-66462400	Weak transcription	Fetal Intestine Large	intestine
37	chr11:66446600-66452200	Weak transcription	Placenta	Placenta
38	chr11:66446600-66452200	Weak transcription	HMEC	breast
39	chr11:66446600-66452400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:66446600-66452400	Weak transcription	Hela-S3	cervix
41	chr11:66446600-66453800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:66446600-66461800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:66446800-66452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:66446800-66453800	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:66446800-66462200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:66449000-66453600	Weak transcription	Fetal Intestine Small	intestine
47	chr11:66450800-66467000	Strong transcription	Fetal Brain Female	brain
48	chr11:66451000-66452000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:66451000-66452000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:66451000-66452400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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