Variant report

Variant	rs11465963
Chromosome Location	chr12:66605980-66605981
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66523149..66526035-chr12:66603922..66606089,2	K562	blood:

Variant related genes	Relation type
ENSG00000139233	Chromatin interaction
ENSG00000239335	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56914246	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59800391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327347	0.94[AFR][1000 genomes]
rs74097882	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097884	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097886	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097887	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097893	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097894	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097896	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097897	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097899	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097900	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097901	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097902	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74100103	0.94[AFR][1000 genomes];1.00[AMR][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:66589400-66606000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:66589600-66623400	Weak transcription	Spleen	Spleen
4	chr12:66592200-66606000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:66592400-66628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:66593400-66606000	Weak transcription	Adipose Nuclei	Adipose
7	chr12:66593400-66613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:66597600-66623400	Weak transcription	Aorta	Aorta
9	chr12:66597800-66609000	Weak transcription	Stomach Mucosa	stomach
10	chr12:66599000-66608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:66603200-66606200	Genic enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:66604000-66620200	Weak transcription	Lung	lung
13	chr12:66604400-66606000	Enhancers	Primary B cells from cord blood	blood
14	chr12:66604400-66606200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:66604400-66628800	Weak transcription	Right Ventricle	heart
16	chr12:66604800-66609000	Strong transcription	Left Ventricle	heart
17	chr12:66604800-66610600	Strong transcription	Fetal Lung	lung
18	chr12:66605200-66628800	Weak transcription	Psoas Muscle	Psoas
19	chr12:66605400-66606200	Genic enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:66605400-66606800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:66605400-66609000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:66605400-66628200	Weak transcription	NHDF-Ad	bronchial
23	chr12:66605600-66606800	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:66605600-66607000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:66605600-66607200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:66605600-66611400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:66605800-66606000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:66605800-66606200	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:66605800-66606200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:66605800-66608000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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