Variant report

Variant	rs12290477
Chromosome Location	chr11:9243879-9243880
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9236058..9237816-chr11:9242890..9245815,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11042237	0.83[AMR][1000 genomes]
rs11042239	0.83[AMR][1000 genomes]
rs12281722	1.00[AMR][1000 genomes]
rs12285199	0.84[AFR][1000 genomes]
rs12293711	0.86[AFR][1000 genomes]
rs13377443	0.84[AFR][1000 genomes]
rs7943406	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7951920	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
2	chr11:9226000-9252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:9226000-9252800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:9227400-9250400	Weak transcription	Fetal Stomach	stomach
5	chr11:9227600-9250600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:9230400-9253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9231000-9252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:9231400-9250600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:9233000-9244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:9233000-9248200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:9233800-9249400	Weak transcription	Pancreas	Pancrea
12	chr11:9236000-9252200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:9236800-9250800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:9237000-9244200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:9237000-9247000	Weak transcription	Right Ventricle	heart
16	chr11:9237000-9249800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:9237000-9249800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:9237000-9249800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:9237000-9249800	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:9237000-9250000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:9237000-9250200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:9237000-9252200	Weak transcription	NHLF	lung
23	chr11:9237000-9252400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:9237000-9254000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:9237200-9251600	Weak transcription	Primary B cells from cord blood	blood
26	chr11:9237400-9252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:9238000-9250400	Weak transcription	HepG2	liver
28	chr11:9238400-9244200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:9238400-9244200	Weak transcription	Left Ventricle	heart
30	chr11:9238400-9244200	Weak transcription	Psoas Muscle	Psoas
31	chr11:9238400-9249600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:9238400-9249800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:9238600-9244200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:9238600-9250600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:9240200-9252200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:9241200-9244200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:9241400-9244000	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:9241400-9244200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:9241400-9244200	Weak transcription	Brain Substantia Nigra	brain
40	chr11:9241400-9250200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:9241400-9254200	Weak transcription	HMEC	breast
42	chr11:9241600-9244000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:9241600-9244000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:9241600-9244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:9241600-9244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:9241600-9244000	Weak transcription	Brain Anterior Caudate	brain
47	chr11:9241600-9244200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:9241600-9244200	Weak transcription	Brain Angular Gyrus	brain
49	chr11:9241600-9244200	Weak transcription	A549	lung
50	chr11:9241600-9244400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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