Variant report

Variant	rs11046088
Chromosome Location	chr12:21656979-21656980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21655984..21659478-chr12:21666041..21668591,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1065751	0.81[MKK][hapmap]
rs12296209	0.87[MKK][hapmap]
rs7969606	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21655400-21657000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:21655400-21657000	Flanking Active TSS	Osteobl	bone
3	chr12:21655400-21657200	Weak transcription	Esophagus	oesophagus
4	chr12:21655400-21657200	Weak transcription	Gastric	stomach
5	chr12:21655400-21674800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:21655600-21657400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:21655600-21657400	Enhancers	Brain Anterior Caudate	brain
8	chr12:21655600-21657600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:21655600-21657600	Enhancers	Brain Angular Gyrus	brain
10	chr12:21655600-21657600	Enhancers	Small Intestine	intestine
11	chr12:21655600-21659400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:21655600-21660800	Weak transcription	Left Ventricle	heart
13	chr12:21655600-21661800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:21655600-21666000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:21655800-21657000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:21655800-21657400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:21655800-21657400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:21655800-21657400	Enhancers	Liver	Liver
19	chr12:21655800-21658000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:21656000-21657200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:21656000-21657200	Weak transcription	Lung	lung
22	chr12:21656000-21657200	Weak transcription	Ovary	ovary
23	chr12:21656000-21657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:21656000-21657400	Enhancers	Adipose Nuclei	Adipose
25	chr12:21656000-21657600	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:21656000-21657600	Enhancers	Fetal Brain Male	brain
27	chr12:21656000-21657600	Enhancers	HMEC	breast
28	chr12:21656000-21658800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:21656000-21658800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:21656000-21659400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:21656000-21660000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:21656000-21660400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:21656000-21660800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:21656000-21660800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:21656000-21661000	Weak transcription	Fetal Intestine Large	intestine
36	chr12:21656000-21671800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:21656000-21672800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:21656000-21674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:21656000-21674600	Weak transcription	Fetal Kidney	kidney
40	chr12:21656200-21657000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:21656200-21657000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:21656200-21657200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:21656200-21657200	Weak transcription	Pancreas	Pancrea
44	chr12:21656200-21657200	Weak transcription	Right Atrium	heart
45	chr12:21656200-21657200	Weak transcription	Spleen	Spleen
46	chr12:21656200-21657200	Active TSS	NH-A	brain
47	chr12:21656200-21657400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:21656200-21657400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr12:21656200-21657400	Enhancers	Fetal Brain Female	brain
50	chr12:21656200-21657400	Enhancers	Fetal Muscle Leg	muscle

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