Variant report

Variant	rs12291263
Chromosome Location	chr11:9153109-9153110
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9151966..9154190-chr11:9155190..9157192,2	K562	blood:
2	chr11:9110959..9114784-chr11:9149976..9153737,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175356	Chromatin interaction
ENSG00000264984	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1039209	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs10466508	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10466509	1.00[YRI][hapmap]
rs11042184	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042209	1.00[MEX][hapmap]
rs11828039	0.85[AMR][1000 genomes]
rs12273976	1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12275447	0.82[YRI][hapmap]
rs12285553	0.84[AFR][1000 genomes]
rs12286174	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs12290377	0.82[YRI][hapmap]
rs2163627	1.00[MEX][hapmap]
rs60541426	0.85[AMR][1000 genomes]
rs7113828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9113600-9159800	Weak transcription	Right Ventricle	heart
2	chr11:9121800-9154800	Weak transcription	Brain Substantia Nigra	brain
3	chr11:9130800-9153600	Weak transcription	Brain Angular Gyrus	brain
4	chr11:9132000-9153200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:9134000-9154000	Weak transcription	Osteobl	bone
6	chr11:9134200-9154000	Weak transcription	NHDF-Ad	bronchial
7	chr11:9134800-9159000	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:9134800-9161200	Weak transcription	Fetal Brain Male	brain
9	chr11:9136400-9159200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:9137200-9159000	Weak transcription	Fetal Heart	heart
11	chr11:9141400-9153600	Weak transcription	Primary T cells from cord blood	blood
12	chr11:9141400-9153800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:9141600-9158400	Weak transcription	Pancreas	Pancrea
14	chr11:9142000-9157200	Weak transcription	NHLF	lung
15	chr11:9142400-9163000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:9142600-9159000	Weak transcription	Adipose Nuclei	Adipose
17	chr11:9142600-9159200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:9143000-9154400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:9143000-9155000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:9143400-9159200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:9143400-9161200	Weak transcription	Aorta	Aorta
23	chr11:9143600-9159000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:9143800-9158800	Weak transcription	Fetal Brain Female	brain
25	chr11:9144400-9161200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:9144800-9153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:9145400-9156800	Weak transcription	Placenta	Placenta
28	chr11:9146000-9157400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:9146400-9154800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:9146400-9158400	Weak transcription	Gastric	stomach
31	chr11:9146400-9159200	Weak transcription	K562	blood
32	chr11:9146600-9158800	Weak transcription	Lung	lung
33	chr11:9147000-9158800	Weak transcription	A549	lung
34	chr11:9148400-9158400	Weak transcription	GM12878-XiMat	blood
35	chr11:9148400-9159000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:9148400-9159000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:9148400-9159200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:9148600-9159000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:9148800-9158000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:9148800-9159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:9149000-9158800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:9149400-9157800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:9149800-9157400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:9150200-9153800	Strong transcription	HSMM	muscle
45	chr11:9150400-9153800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:9150600-9160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:9151400-9155600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:9151600-9158400	Weak transcription	HSMMtube	muscle
49	chr11:9151800-9153600	Weak transcription	Primary B cells from cord blood	blood
50	chr11:9151800-9153600	Enhancers	Psoas Muscle	Psoas

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