Variant report

Variant	rs12281722
Chromosome Location	chr11:9236388-9236389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9236350..9239089-chr11:9246437..9248509,2	K562	blood:
2	chr11:9229489..9231111-chr11:9235259..9236872,2	K562	blood:
3	chr11:9236058..9237816-chr11:9242890..9245815,2	K562	blood:
4	chr11:9236348..9239167-chr11:9240677..9242772,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11042237	0.83[AMR][1000 genomes]
rs11042239	0.83[AMR][1000 genomes]
rs12290477	1.00[AMR][1000 genomes]
rs7943406	1.00[AMR][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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
2	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
3	chr11:9225400-9236800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:9225800-9237800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:9225800-9237800	Weak transcription	Gastric	stomach
6	chr11:9226000-9236400	Weak transcription	Lung	lung
7	chr11:9226000-9236800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:9226000-9241200	Weak transcription	Aorta	Aorta
9	chr11:9226000-9252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:9226000-9252800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:9227200-9236600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:9227400-9236400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:9227400-9250400	Weak transcription	Fetal Stomach	stomach
14	chr11:9227600-9236400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:9227600-9250600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:9228400-9236400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:9228400-9236600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:9228400-9236600	Weak transcription	HUVEC	blood vessel
19	chr11:9229200-9236400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:9229800-9237600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr11:9230400-9253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:9230800-9236600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:9231000-9252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:9231200-9236400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:9231200-9236400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:9231200-9236400	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:9231200-9241200	Weak transcription	Adipose Nuclei	Adipose
28	chr11:9231400-9250600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:9232400-9236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:9232400-9236400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:9232400-9236400	Weak transcription	Spleen	Spleen
32	chr11:9232600-9236400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:9232600-9236600	Weak transcription	HepG2	liver
34	chr11:9232800-9236400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:9232800-9236400	Weak transcription	K562	blood
36	chr11:9232800-9236600	Weak transcription	NHLF	lung
37	chr11:9232800-9236800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:9232800-9236800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:9232800-9237800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:9233000-9236400	Weak transcription	NHDF-Ad	bronchial
41	chr11:9233000-9236800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:9233000-9237800	Weak transcription	Psoas Muscle	Psoas
43	chr11:9233000-9241000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:9233000-9241200	Weak transcription	HSMM	muscle
45	chr11:9233000-9244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:9233000-9248200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:9233200-9236400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:9233200-9236600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:9233200-9236600	Weak transcription	HMEC	breast
50	chr11:9233400-9236600	Weak transcription	Osteobl	bone

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