Variant report

Variant	rs12278593
Chromosome Location	chr11:34299433-34299434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34297526..34299830-chr11:34304007..34305753,2	MCF-7	breast:
2	chr11:34285128..34287533-chr11:34298437..34301296,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10836179	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836180	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032591	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11606346	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967745	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967746	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611111	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755161	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756127	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34285600-34299800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:34289000-34302600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:34293600-34299800	Weak transcription	HepG2	liver
4	chr11:34296800-34299800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:34296800-34301600	Weak transcription	HSMMtube	muscle
6	chr11:34296800-34303000	Weak transcription	Gastric	stomach
7	chr11:34296800-34306200	Weak transcription	Fetal Brain Female	brain
8	chr11:34297000-34300000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:34297000-34300000	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:34297000-34300000	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:34297000-34300000	Weak transcription	Left Ventricle	heart
12	chr11:34297000-34300200	Weak transcription	Brain Substantia Nigra	brain
13	chr11:34297000-34300200	Weak transcription	Fetal Thymus	thymus
14	chr11:34297000-34305000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:34297000-34305200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:34297000-34321000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:34297200-34299800	Weak transcription	Liver	Liver
18	chr11:34297200-34300000	Weak transcription	Adipose Nuclei	Adipose
19	chr11:34297200-34300200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:34297200-34301800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:34297200-34302400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:34297200-34302600	Weak transcription	Osteobl	bone
23	chr11:34297200-34324200	Weak transcription	Aorta	Aorta
24	chr11:34297400-34300000	Weak transcription	Fetal Heart	heart
25	chr11:34297400-34300000	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:34297400-34300200	Weak transcription	Fetal Lung	lung
27	chr11:34297400-34300200	Weak transcription	Psoas Muscle	Psoas
28	chr11:34297400-34302400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:34297400-34302400	Weak transcription	HSMM	muscle
30	chr11:34297400-34302600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:34297400-34302600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:34297600-34300000	Weak transcription	Right Ventricle	heart
33	chr11:34297600-34300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:34297600-34302600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:34297600-34302800	Weak transcription	Esophagus	oesophagus
36	chr11:34297600-34312600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:34297800-34300000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:34298200-34306400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:34298400-34299800	Weak transcription	A549	lung
40	chr11:34298400-34300000	Weak transcription	GM12878-XiMat	blood
41	chr11:34298400-34300000	Weak transcription	Hela-S3	cervix
42	chr11:34298400-34300400	Weak transcription	Right Atrium	heart
43	chr11:34298400-34305600	Weak transcription	Pancreas	Pancrea
44	chr11:34298600-34300200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:34299400-34300000	Weak transcription	Placenta	Placenta

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