Variant report

Variant	rs12226008
Chromosome Location	chr11:18027819-18027820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18007007..18009095-chr11:18026747..18028444,2	K562	blood:
2	chr11:17228083..17230231-chr11:18026623..18029632,3	MCF-7	breast:
3	chr11:17864169..17866997-chr11:18026845..18029162,2	K562	blood:
4	chr11:18026970..18029226-chr11:18030526..18034636,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction
ENSG00000129158	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs169807	0.88[ASN][1000 genomes]
rs211099	0.84[ASN][1000 genomes]
rs211103	0.81[ASN][1000 genomes]
rs211125	0.86[ASN][1000 genomes]
rs211129	0.91[ASN][1000 genomes]
rs211133	0.98[ASN][1000 genomes]
rs211142	0.88[ASN][1000 genomes]
rs211143	0.88[ASN][1000 genomes]
rs211147	0.84[ASN][1000 genomes]
rs412261	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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv832079	chr11:17927967-18047743	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17934400-18033600	Weak transcription	Small Intestine	intestine
2	chr11:17945400-18033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:17980400-18033600	Weak transcription	Colonic Mucosa	Colon
4	chr11:17981200-18033200	Weak transcription	Esophagus	oesophagus
5	chr11:17989400-18033400	Weak transcription	Pancreas	Pancrea
6	chr11:17994000-18033400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:17996600-18032400	Weak transcription	Fetal Brain Male	brain
8	chr11:17998400-18033200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:18002400-18033800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:18007000-18029200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:18008200-18033200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:18008600-18033600	Weak transcription	NHDF-Ad	bronchial
13	chr11:18008800-18033400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:18008800-18033400	Weak transcription	HUVEC	blood vessel
15	chr11:18009400-18033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:18010200-18033600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:18010400-18033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:18013800-18029400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:18014200-18028600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:18014200-18028600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:18014200-18029000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:18014200-18029200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:18014200-18029800	Strong transcription	Primary T cells from cord blood	blood
24	chr11:18014600-18028000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr11:18014600-18028400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:18014800-18033200	Weak transcription	Stomach Mucosa	stomach
27	chr11:18015200-18033400	Weak transcription	Fetal Heart	heart
28	chr11:18016200-18028800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:18016400-18033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:18017000-18033600	Weak transcription	NHLF	lung
31	chr11:18018200-18029600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:18019000-18028200	Strong transcription	Adipose Nuclei	Adipose
33	chr11:18019400-18028400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:18019600-18029200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:18020000-18034000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:18020200-18028200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:18020200-18028200	Strong transcription	Fetal Brain Female	brain
38	chr11:18020200-18028600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:18020200-18028600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:18020200-18029200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:18020200-18029400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:18020400-18028400	Strong transcription	Dnd41	blood
43	chr11:18020400-18028600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr11:18020400-18028800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:18020400-18029400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:18020800-18028000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr11:18021000-18028600	Strong transcription	Left Ventricle	heart
48	chr11:18021000-18033000	Weak transcription	HMEC	breast
49	chr11:18021200-18030200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:18021600-18033400	Weak transcription	Osteobl	bone

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