Variant report

Variant	rs12288262
Chromosome Location	chr11:85778020-85778021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85777862..85782517-chr11:85902953..85907117,7	K562	blood:
2	chr11:85762145..85764012-chr11:85775530..85778515,2	MCF-7	breast:
3	chr11:85775759..85778337-chr11:85946507..85948966,2	K562	blood:
4	chr11:85777613..85779619-chr11:85854927..85856671,2	K562	blood:
5	chr11:85776467..85780584-chr11:85902948..85906650,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254502	Chromatin interaction
ENSG00000254699	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10501606	1.00[AMR][1000 genomes]
rs10898429	0.87[ASW][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234474	1.00[MEX][hapmap]
rs11234482	1.00[AMR][1000 genomes]
rs11234484	1.00[AMR][1000 genomes]
rs11234490	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234498	1.00[AMR][1000 genomes]
rs11234506	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234509	1.00[AMR][1000 genomes]
rs11234516	1.00[AMR][1000 genomes]
rs11234521	1.00[AMR][1000 genomes]
rs11234522	1.00[AMR][1000 genomes]
rs11234525	1.00[YRI][hapmap]
rs11234526	0.81[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234527	1.00[ASW][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234528	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234529	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234530	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234553	1.00[AMR][1000 genomes]
rs11234557	1.00[AMR][1000 genomes]
rs12270430	1.00[AMR][1000 genomes]
rs12270938	1.00[AMR][1000 genomes]
rs12272711	1.00[AMR][1000 genomes]
rs12274978	1.00[MEX][hapmap]
rs12276323	1.00[AMR][1000 genomes]
rs12278254	1.00[AMR][1000 genomes]
rs12280026	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283011	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12283160	0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283400	1.00[AMR][1000 genomes]
rs12283463	1.00[AMR][1000 genomes]
rs12283835	1.00[AMR][1000 genomes]
rs12286862	1.00[AMR][1000 genomes]
rs12290218	1.00[MEX][hapmap]
rs12290708	1.00[AMR][1000 genomes]
rs12292101	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs12292120	0.83[AFR][1000 genomes]
rs12293426	1.00[AMR][1000 genomes]
rs12295435	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13377593	0.86[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17817153	0.91[YRI][hapmap]
rs7952593	1.00[CHB][hapmap]
rs9804530	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85770800-85778200	Weak transcription	Gastric	stomach
2	chr11:85773200-85778200	Weak transcription	Pancreas	Pancrea
3	chr11:85773600-85778800	Weak transcription	Spleen	Spleen
4	chr11:85773600-85781000	Active TSS	Right Ventricle	heart
5	chr11:85773800-85780600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:85773800-85780600	Active TSS	GM12878-XiMat	blood
7	chr11:85775000-85780600	Active TSS	Stomach Smooth Muscle	stomach
8	chr11:85775200-85779200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr11:85775600-85778400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:85775600-85780800	Active TSS	Ovary	ovary
11	chr11:85775600-85781000	Active TSS	Hela-S3	cervix
12	chr11:85775800-85780600	Active TSS	HSMMtube	muscle
13	chr11:85776000-85778400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:85776000-85781200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:85776200-85778400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:85776200-85778400	Weak transcription	Esophagus	oesophagus
17	chr11:85776200-85779200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:85776200-85780600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:85776200-85780600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:85776200-85780800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:85776200-85780800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:85776400-85778200	Weak transcription	Lung	lung
23	chr11:85776400-85778400	Weak transcription	Small Intestine	intestine
24	chr11:85776400-85779800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:85776400-85780600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:85776400-85780600	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr11:85776400-85780600	Active TSS	HMEC	breast
28	chr11:85776400-85780800	Active TSS	Right Atrium	heart
29	chr11:85776400-85781000	Active TSS	HSMM	muscle
30	chr11:85776400-85781000	Active TSS	NHLF	lung
31	chr11:85776400-85781200	Active TSS	Psoas Muscle	Psoas
32	chr11:85776600-85778800	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr11:85776600-85779000	Flanking Active TSS	Dnd41	blood
34	chr11:85776600-85779200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:85776600-85780400	Active TSS	Primary T cells fromperipheralblood	blood
36	chr11:85776600-85780400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:85776600-85780400	Active TSS	Fetal Muscle Leg	muscle
38	chr11:85776600-85780800	Active TSS	Aorta	Aorta
39	chr11:85776600-85781000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:85776800-85779200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:85776800-85780600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:85776800-85780600	Active TSS	Brain Substantia Nigra	brain
43	chr11:85776800-85780600	Active TSS	Thymus	Thymus
44	chr11:85776800-85780600	Active TSS	NHEK	skin
45	chr11:85776800-85780800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:85776800-85780800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:85776800-85780800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr11:85776800-85781000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:85777000-85779400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:85777000-85780400	Active TSS	Primary monocytes fromperipheralblood	blood

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