Variant report

Variant	rs12225704
Chromosome Location	chr11:46263640-46263641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46262681..46266586-chr11:46271092..46274649,4	MCF-7	breast:
2	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
3	chr11:46263626..46270809-chr11:46297011..46303055,11	K562	blood:
4	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
5	chr11:46263199..46264892-chr11:46372073..46373594,2	MCF-7	breast:
6	chr11:46261971..46264910-chr11:46359526..46361231,2	K562	blood:
7	chr11:46263623..46265144-chr11:46301509..46304362,2	MCF-7	breast:
8	chr11:46263034..46268818-chr11:46367251..46371688,6	K562	blood:
9	chr11:46263532..46266439-chr11:46314699..46317339,4	MCF-7	breast:
10	chr11:46263449..46265735-chr11:46337314..46338830,2	MCF-7	breast:
11	chr11:46263045..46265873-chr11:46295785..46297445,2	MCF-7	breast:
12	chr11:46132224..46135042-chr11:46263015..46266575,4	K562	blood:
13	chr11:46255797..46257646-chr11:46263436..46265012,2	MCF-7	breast:
14	chr11:46262370..46265982-chr11:46295406..46297667,3	MCF-7	breast:
15	chr11:46263634..46265173-chr11:46350706..46352821,2	MCF-7	breast:
16	chr11:46260902..46266382-chr11:46328727..46335057,8	K562	blood:
17	chr11:46263412..46267230-chr11:46295489..46297894,3	K562	blood:
18	chr11:46258132..46262487-chr11:46262978..46267443,11	MCF-7	breast:
19	chr11:46261574..46264285-chr11:46284540..46287123,3	K562	blood:
20	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
21	chr11:45952509..45955320-chr11:46263473..46266230,2	MCF-7	breast:
22	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
23	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
24	chr11:46263512..46266162-chr11:46400949..46402899,2	K562	blood:
25	chr11:46141561..46146352-chr11:46263499..46266463,7	MCF-7	breast:
26	chr11:46242391..46244126-chr11:46262413..46265513,3	K562	blood:
27	chr11:46262201..46264522-chr11:46292833..46295180,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135365	Chromatin interaction
ENSG00000255007	Chromatin interaction
ENSG00000263539	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000157613	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000254653	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10838587	0.94[ASN][1000 genomes]
rs10838588	0.94[ASN][1000 genomes]
rs10838590	0.94[ASN][1000 genomes]
rs11038826	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038831	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12223774	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13377401	0.94[ASN][1000 genomes]
rs4756065	0.83[ASN][1000 genomes]
rs4756066	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46260400-46264400	Weak transcription	Small Intestine	intestine
2	chr11:46260800-46264200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:46260800-46264200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:46260800-46264200	Weak transcription	Aorta	Aorta
5	chr11:46260800-46264200	Weak transcription	Fetal Kidney	kidney
6	chr11:46260800-46264400	Enhancers	Placenta	Placenta
7	chr11:46260800-46264800	Weak transcription	Gastric	stomach
8	chr11:46261200-46263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:46261200-46263800	Weak transcription	Fetal Lung	lung
10	chr11:46261200-46264000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:46261200-46264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:46261200-46264200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:46261200-46264200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:46261200-46264200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:46261200-46264200	Weak transcription	Liver	Liver
16	chr11:46261200-46264200	Weak transcription	Brain Angular Gyrus	brain
17	chr11:46261200-46264200	Weak transcription	Brain Anterior Caudate	brain
18	chr11:46261200-46264200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:46261200-46264200	Weak transcription	Esophagus	oesophagus
20	chr11:46261200-46264200	Weak transcription	Fetal Intestine Small	intestine
21	chr11:46261200-46264200	Weak transcription	Pancreas	Pancrea
22	chr11:46261200-46264200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:46261200-46264200	Weak transcription	Right Atrium	heart
24	chr11:46261200-46264200	Weak transcription	Spleen	Spleen
25	chr11:46261200-46264200	Weak transcription	GM12878-XiMat	blood
26	chr11:46261200-46264400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:46261200-46264400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:46261200-46264400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:46261200-46264400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:46261200-46264400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:46261200-46264400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:46261200-46264400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:46261200-46264400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:46261200-46264400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:46261200-46264400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:46261200-46264400	Weak transcription	Colonic Mucosa	Colon
37	chr11:46261200-46264400	Weak transcription	Left Ventricle	heart
38	chr11:46261200-46264400	Weak transcription	Lung	lung
39	chr11:46261200-46264400	Weak transcription	Ovary	ovary
40	chr11:46261200-46264400	Weak transcription	Psoas Muscle	Psoas
41	chr11:46261200-46264400	Weak transcription	Right Ventricle	heart
42	chr11:46261200-46264600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:46261400-46263800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:46261400-46264000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:46261400-46264000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:46261400-46264000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:46261400-46264000	Weak transcription	Adipose Nuclei	Adipose
48	chr11:46261400-46264000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:46261400-46264000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:46261400-46264000	Weak transcription	Monocytes-CD14+_RO01746	blood

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