Variant report

Variant	rs12278582
Chromosome Location	chr11:36302789-36302790
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	CTCF	chr11:36302720-36302870	HPF	lung:	n/a	n/a
2	FOXA2	chr11:36302783-36303175	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36301790..36306612-chr11:36307311..36312383,9	K562	blood:

Variant related genes	Relation type
COMMD9	TF binding region
ENSG00000110442	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10836525	1.00[EUR][1000 genomes]
rs11033520	1.00[EUR][1000 genomes]
rs12272725	1.00[EUR][1000 genomes]
rs12274512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282145	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283981	0.90[EUR][1000 genomes]
rs12285631	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285953	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12286007	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286010	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12286643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289984	1.00[EUR][1000 genomes]
rs2289985	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS 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	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36287600-36304800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:36288000-36310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:36288400-36304600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:36290800-36310400	Weak transcription	Stomach Mucosa	stomach
5	chr11:36291200-36302800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:36291400-36303000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:36292000-36303200	Strong transcription	Primary B cells from cord blood	blood
8	chr11:36292000-36309600	Weak transcription	Psoas Muscle	Psoas
9	chr11:36292200-36309600	Weak transcription	A549	lung
10	chr11:36295000-36310000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:36295800-36306200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:36296400-36302800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:36296400-36305400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:36296400-36309800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:36296600-36309600	Weak transcription	Fetal Lung	lung
16	chr11:36296600-36309600	Weak transcription	NHLF	lung
17	chr11:36296800-36304200	Weak transcription	GM12878-XiMat	blood
18	chr11:36298200-36302800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:36298200-36302800	Weak transcription	Small Intestine	intestine
20	chr11:36298200-36310000	Weak transcription	NHDF-Ad	bronchial
21	chr11:36298400-36303800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:36298400-36309400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:36299000-36302800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:36300600-36309600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:36300600-36309600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:36300600-36309600	Weak transcription	Right Ventricle	heart
27	chr11:36300800-36304200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:36300800-36304400	Weak transcription	Aorta	Aorta
29	chr11:36300800-36304400	Weak transcription	Hela-S3	cervix
30	chr11:36300800-36309200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:36300800-36309600	Weak transcription	Pancreas	Pancrea
32	chr11:36300800-36309600	Weak transcription	Spleen	Spleen
33	chr11:36300800-36310000	Weak transcription	Colonic Mucosa	Colon
34	chr11:36300800-36310000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:36300800-36310000	Weak transcription	Gastric	stomach
36	chr11:36301000-36303200	Weak transcription	Brain Germinal Matrix	brain
37	chr11:36301000-36307400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:36301000-36309200	Weak transcription	Dnd41	blood
39	chr11:36301000-36309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:36301000-36309600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:36301000-36309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:36301000-36309800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:36301200-36304200	Weak transcription	Fetal Intestine Large	intestine
44	chr11:36301200-36309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:36301200-36309400	Weak transcription	HepG2	liver
46	chr11:36301200-36309600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:36301200-36309800	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:36301200-36310200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:36301400-36302800	Weak transcription	Esophagus	oesophagus
50	chr11:36301400-36309200	Weak transcription	Brain Angular Gyrus	brain

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