Variant report

Variant	rs12293711
Chromosome Location	chr11:9275180-9275181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9267716..9269230-chr11:9274364..9276054,2	K562	blood:
2	chr11:9267583..9270132-chr11:9274385..9279675,6	K562	blood:
3	chr11:9270425..9272951-chr11:9273779..9275899,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12285199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290477	0.86[AFR][1000 genomes]
rs13377443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7951920	1.00[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	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
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 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	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9254400-9280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:9257000-9276000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:9257600-9276800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:9262400-9282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:9264000-9276800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:9264000-9283400	Weak transcription	Fetal Lung	lung
11	chr11:9264000-9284600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:9264200-9285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:9265200-9279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:9265600-9284600	Weak transcription	Brain Germinal Matrix	brain
15	chr11:9265800-9275400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr11:9266400-9275600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr11:9267200-9276200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr11:9267400-9275400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:9267600-9275400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:9267600-9275400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr11:9267800-9285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:9269200-9275400	Enhancers	Fetal Thymus	thymus
23	chr11:9269400-9280000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:9270200-9282000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:9270200-9284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:9271800-9275800	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:9271800-9280200	Weak transcription	HSMM	muscle
28	chr11:9272000-9275400	Enhancers	Left Ventricle	heart
29	chr11:9272000-9278000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:9272000-9282000	Weak transcription	NHDF-Ad	bronchial
31	chr11:9272000-9284600	Weak transcription	Fetal Brain Female	brain
32	chr11:9272000-9285400	Weak transcription	HSMMtube	muscle
33	chr11:9272200-9275200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:9272200-9276200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:9272200-9279800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:9272200-9281600	Weak transcription	Hela-S3	cervix
37	chr11:9272200-9281600	Weak transcription	Osteobl	bone
38	chr11:9272400-9275200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:9272400-9275400	Enhancers	Spleen	Spleen
40	chr11:9272400-9275800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:9272400-9281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:9272400-9282000	Weak transcription	NHLF	lung
43	chr11:9272400-9282800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:9272600-9281200	Weak transcription	Right Ventricle	heart
45	chr11:9272600-9281400	Weak transcription	Ovary	ovary
46	chr11:9272600-9281400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:9272600-9285600	Weak transcription	Small Intestine	intestine
48	chr11:9272800-9278000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:9273200-9275800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:9273200-9276400	Enhancers	Primary T cells from cord blood	blood

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