Variant report

Variant	rs12277069
Chromosome Location	chr11:75128467-75128468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75122940..75124831-chr11:75127769..75129373,2	K562	blood:
2	chr11:75127472..75131513-chr11:75141648..75144922,3	K562	blood:
3	chr11:75122807..75124831-chr11:75127769..75130348,4	K562	blood:
4	chr11:75109640..75112257-chr11:75126365..75128955,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000149243	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11236424	1.00[AMR][1000 genomes]
rs11236425	1.00[AMR][1000 genomes]
rs11236426	1.00[AMR][1000 genomes]
rs11236443	1.00[AMR][1000 genomes]
rs11236446	1.00[AMR][1000 genomes]
rs12272513	1.00[AMR][1000 genomes]
rs12274327	1.00[AMR][1000 genomes]
rs12275690	1.00[AMR][1000 genomes]
rs12277708	1.00[AMR][1000 genomes]
rs12281974	1.00[AMR][1000 genomes]
rs12286009	1.00[AMR][1000 genomes]
rs12288089	1.00[AMR][1000 genomes]
rs12289922	1.00[AMR][1000 genomes]
rs12292511	1.00[AMR][1000 genomes]
rs12292958	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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
4	nsv897921	chr11:75115893-75147661	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897922	chr11:75116733-75147661	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 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	chr11:75115600-75132200	Weak transcription	Fetal Brain Male	brain
2	chr11:75117000-75135200	Weak transcription	Right Ventricle	heart
3	chr11:75117400-75139000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:75118200-75129800	Weak transcription	Hela-S3	cervix
5	chr11:75118200-75139000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:75118200-75139600	Weak transcription	Small Intestine	intestine
7	chr11:75119400-75129200	Weak transcription	Stomach Mucosa	stomach
8	chr11:75119400-75139800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:75119600-75131400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:75120400-75134200	Weak transcription	Right Atrium	heart
11	chr11:75122200-75129800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:75122200-75130200	Strong transcription	Fetal Brain Female	brain
13	chr11:75122600-75129000	Strong transcription	Fetal Thymus	thymus
14	chr11:75122600-75129400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:75122600-75129400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:75122600-75130600	Strong transcription	Fetal Intestine Small	intestine
17	chr11:75122800-75128600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:75122800-75128800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:75122800-75129000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:75122800-75129400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:75122800-75130000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:75122800-75130000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:75122800-75130200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:75122800-75132000	Strong transcription	Fetal Stomach	stomach
25	chr11:75122800-75134800	Strong transcription	Thymus	Thymus
26	chr11:75122800-75135600	Strong transcription	Primary T cells from cord blood	blood
27	chr11:75123400-75129400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:75123400-75138800	Weak transcription	Fetal Kidney	kidney
29	chr11:75123400-75140000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:75123600-75139000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:75125000-75129600	Weak transcription	NHDF-Ad	bronchial
32	chr11:75125200-75131000	Weak transcription	K562	blood
33	chr11:75125200-75131400	Weak transcription	Fetal Heart	heart
34	chr11:75125200-75132800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:75125200-75136200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:75125400-75128800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:75125400-75131400	Weak transcription	Brain Substantia Nigra	brain
38	chr11:75125400-75132400	Weak transcription	Fetal Lung	lung
39	chr11:75125400-75133600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:75126000-75129000	Weak transcription	Aorta	Aorta
41	chr11:75126200-75128800	Weak transcription	NH-A	brain
42	chr11:75126200-75129800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:75126200-75131000	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:75126200-75131000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:75126200-75131200	Weak transcription	Gastric	stomach
46	chr11:75126200-75131400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:75126200-75133000	Weak transcription	Adipose Nuclei	Adipose
48	chr11:75126200-75133600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:75126200-75133600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:75126200-75133800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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