Variant report

Variant	rs12280026
Chromosome Location	chr11:85768748-85768749
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85768733..85771194-chr11:85773077..85775713,3	MCF-7	breast:
2	chr11:85768233..85770657-chr11:85911985..85913899,2	K562	blood:
3	chr11:85768255..85771189-chr11:85904324..85906270,2	K562	blood:
4	chr11:85767944..85769577-chr11:85771277..85773759,2	MCF-7	breast:
5	chr11:85763399..85766390-chr11:85766683..85769520,2	K562	blood:
6	chr11:85759677..85764331-chr11:85767246..85771680,6	K562	blood:

Variant related genes	Relation type
ENSG00000254699	Chromatin interaction
ENSG00000254502	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10501606	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10898429	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234482	1.00[AMR][1000 genomes]
rs11234484	1.00[AMR][1000 genomes]
rs11234490	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234498	1.00[AMR][1000 genomes]
rs11234506	1.00[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];0.83[AFR][1000 genomes]
rs11234526	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234527	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234528	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234529	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234530	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234553	1.00[AMR][1000 genomes]
rs11234557	1.00[AMR][1000 genomes]
rs12270430	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270938	1.00[AMR][1000 genomes]
rs12272711	1.00[AMR][1000 genomes]
rs12276323	1.00[AMR][1000 genomes]
rs12278254	1.00[AMR][1000 genomes]
rs12283011	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12283160	0.86[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]
rs12288262	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290708	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292101	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12293426	1.00[AMR][1000 genomes]
rs12295435	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13377593	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9804530	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85752800-85776400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:85756000-85776000	Weak transcription	Esophagus	oesophagus
3	chr11:85756600-85775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:85758600-85774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:85759000-85773600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:85759400-85773800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:85759400-85774400	Weak transcription	NHEK	skin
8	chr11:85759800-85772600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:85760200-85773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:85760400-85772000	Weak transcription	Pancreas	Pancrea
11	chr11:85761000-85768800	Genic enhancers	K562	blood
12	chr11:85762200-85773800	Weak transcription	NHDF-Ad	bronchial
13	chr11:85762400-85773000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:85763200-85772800	Weak transcription	NHLF	lung
15	chr11:85764000-85775000	Weak transcription	Fetal Brain Female	brain
16	chr11:85764200-85774800	Weak transcription	HMEC	breast
17	chr11:85764200-85775200	Weak transcription	Fetal Intestine Small	intestine
18	chr11:85764400-85769400	Weak transcription	Small Intestine	intestine
19	chr11:85764400-85770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:85764400-85771600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:85764400-85772600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr11:85764400-85777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:85764600-85769400	Weak transcription	Stomach Mucosa	stomach
24	chr11:85764600-85770600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:85765000-85773000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:85765000-85773200	Weak transcription	Lung	lung
27	chr11:85765400-85769400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:85765600-85768800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:85765600-85768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:85765600-85770000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:85765600-85770400	Weak transcription	Gastric	stomach
32	chr11:85765600-85770600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:85765600-85770600	Weak transcription	Ovary	ovary
34	chr11:85765600-85771200	Weak transcription	HepG2	liver
35	chr11:85765600-85771200	Weak transcription	HUVEC	blood vessel
36	chr11:85765600-85772400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:85765600-85773200	Weak transcription	Spleen	Spleen
38	chr11:85765600-85773800	Weak transcription	Dnd41	blood
39	chr11:85765600-85775400	Weak transcription	Placenta	Placenta
40	chr11:85765600-85777800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:85765800-85769400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:85765800-85769400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:85765800-85769600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:85765800-85770400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:85765800-85770400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:85765800-85771200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:85765800-85775200	Weak transcription	Brain Germinal Matrix	brain
48	chr11:85766000-85768800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:85766000-85768800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:85766000-85769000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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