Variant report

Variant	rs12280500
Chromosome Location	chr11:86193113-86193114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86180136..86183089-chr11:86192134..86195122,2	MCF-7	breast:
2	chr11:86187209..86189140-chr11:86192637..86195160,2	MCF-7	breast:
3	chr11:86192819..86194557-chr11:86511589..86513342,2	MCF-7	breast:
4	chr11:86175990..86178793-chr11:86191852..86194276,2	MCF-7	breast:
5	chr11:86182372..86184433-chr11:86191925..86194433,2	K562	blood:
6	chr11:86179427..86181701-chr11:86193017..86195846,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12291729	1.00[AFR][1000 genomes]
rs12291889	1.00[AFR][1000 genomes]
rs12292032	0.83[AFR][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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86159600-86196800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
3	chr11:86171200-86197800	Weak transcription	Esophagus	oesophagus
4	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
5	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
6	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:86172600-86194800	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:86175400-86195400	Weak transcription	Brain Germinal Matrix	brain
9	chr11:86176600-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:86181800-86208800	Weak transcription	Gastric	stomach
11	chr11:86185600-86193800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:86185800-86195000	Weak transcription	Lung	lung
13	chr11:86186400-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:86187600-86201200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:86187800-86195000	Weak transcription	Brain Substantia Nigra	brain
17	chr11:86187800-86196000	Weak transcription	Fetal Brain Female	brain
18	chr11:86187800-86203200	Weak transcription	Fetal Heart	heart
19	chr11:86188000-86195800	Weak transcription	Fetal Intestine Large	intestine
20	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:86188200-86195400	Weak transcription	Fetal Intestine Small	intestine
22	chr11:86188800-86195000	Weak transcription	Fetal Brain Male	brain
23	chr11:86189200-86194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:86189200-86194600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:86189200-86194800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:86189200-86197400	Weak transcription	Fetal Lung	lung
27	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:86189400-86194800	Weak transcription	Adipose Nuclei	Adipose
29	chr11:86189400-86194800	Weak transcription	Spleen	Spleen
30	chr11:86189400-86195600	Weak transcription	Fetal Kidney	kidney
31	chr11:86189400-86206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:86189600-86193600	Weak transcription	Fetal Stomach	stomach
33	chr11:86189600-86193800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:86189600-86194800	Weak transcription	K562	blood
35	chr11:86189600-86195000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:86189600-86195400	Weak transcription	Psoas Muscle	Psoas
37	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:86190000-86194800	Weak transcription	Aorta	Aorta
39	chr11:86190000-86194800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:86190400-86194800	Weak transcription	Left Ventricle	heart
41	chr11:86191200-86197200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:86191600-86196600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:86191600-86196600	Enhancers	HSMMtube	muscle
44	chr11:86191600-86198000	Enhancers	HUVEC	blood vessel
45	chr11:86191800-86197000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:86191800-86197600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:86191800-86198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:86192000-86194200	Weak transcription	NHEK	skin
49	chr11:86192000-86198200	Enhancers	Fetal Muscle Leg	muscle
50	chr11:86192200-86196400	Enhancers	NHLF	lung

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