Variant report

Variant	rs12279038
Chromosome Location	chr11:35343385-35343386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35343264..35345981-chr11:35357333..35358972,2	MCF-7	breast:
2	chr11:35316062..35317764-chr11:35341517..35344402,2	MCF-7	breast:
3	chr11:35342453..35346425-chr11:35381907..35387258,7	MCF-7	breast:
4	chr11:35296537..35299593-chr11:35342637..35345511,4	MCF-7	breast:
5	chr11:35342676..35347000-chr11:35384036..35388623,5	MCF-7	breast:
6	chr11:35338073..35340273-chr11:35341341..35343774,3	MCF-7	breast:
7	chr11:35296598..35298325-chr11:35342427..35345338,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11033078	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11033085	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11033088	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12274790	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12275544	0.87[AFR][1000 genomes]
rs2273686	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847618	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3915513	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4110478	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4996048	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7111949	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7114489	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7127728	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv832120	chr11:35277410-35490304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2758264	chr11:35319320-35480522	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759819	chr11:35319320-35480522	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35327000-35343400	Weak transcription	Fetal Lung	lung
2	chr11:35332000-35343800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:35338200-35343400	Weak transcription	Osteobl	bone
4	chr11:35339000-35343400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:35339000-35358000	Weak transcription	HepG2	liver
6	chr11:35339200-35344200	Weak transcription	Psoas Muscle	Psoas
7	chr11:35340400-35348400	Enhancers	NHDF-Ad	bronchial
8	chr11:35340600-35344800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:35340600-35345800	Enhancers	Pancreas	Pancrea
10	chr11:35340600-35347600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:35340800-35344800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:35341000-35343400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:35341000-35344200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:35341200-35343400	Weak transcription	Right Atrium	heart
15	chr11:35341200-35344000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:35341200-35344400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:35341200-35351200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:35341200-35351400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:35341400-35343600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:35341400-35343600	Weak transcription	GM12878-XiMat	blood
21	chr11:35341400-35346200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:35341400-35349400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:35341400-35350200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:35341400-35351400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:35341800-35344800	Enhancers	Brain Germinal Matrix	brain
26	chr11:35342000-35343400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:35342000-35343600	Weak transcription	Fetal Brain Female	brain
28	chr11:35342000-35346000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:35342000-35348600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:35342200-35343400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:35342200-35344200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:35342200-35346400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:35342400-35343600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:35342400-35344000	Weak transcription	Brain Anterior Caudate	brain
35	chr11:35342400-35347000	Enhancers	HSMM	muscle
36	chr11:35342600-35344600	Enhancers	Fetal Muscle Leg	muscle
37	chr11:35342600-35351400	Weak transcription	Brain Angular Gyrus	brain
38	chr11:35342800-35343600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:35342800-35344400	Enhancers	Brain Hippocampus Middle	brain
40	chr11:35342800-35344600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:35342800-35344800	Enhancers	Adipose Nuclei	Adipose
42	chr11:35343000-35346200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:35343000-35347000	Enhancers	HSMMtube	muscle
44	chr11:35343200-35343400	Enhancers	Brain Substantia Nigra	brain
45	chr11:35343200-35343400	Enhancers	Right Ventricle	heart
46	chr11:35343200-35343800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:35343200-35343800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:35343200-35344200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:35343200-35344200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:35343200-35344400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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