Variant report

Variant	rs11048383
Chromosome Location	chr12:26183329-26183330
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	chr12:26110820..26113756-chr12:26181378..26183569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123094	Chromatin interaction
ENSG00000246695	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10842643	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10842644	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10842653	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11048360	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11048372	0.87[AMR][1000 genomes]
rs11048378	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11048379	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11048380	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11048381	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11048382	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048389	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11048390	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1120064	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1149804	0.82[AMR][1000 genomes]
rs11561207	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227689	0.97[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12578169	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12579489	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12581361	1.00[AFR][1000 genomes]
rs12812200	0.93[AMR][1000 genomes]
rs12812752	0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12813641	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12818478	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12831248	0.87[AMR][1000 genomes]
rs1390326	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1495660	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1691889	0.82[AMR][1000 genomes]
rs16929784	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16929817	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16929830	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16929846	0.86[AMR][1000 genomes]
rs16929940	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16929945	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16929950	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16929958	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2055180	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2132317	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2279680	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2343201	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2643941	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34294573	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34595529	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35924984	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3741546	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3741547	1.00[AFR][1000 genomes]
rs3803009	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58299475	0.81[AMR][1000 genomes]
rs59757232	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs60335536	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61622173	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487525	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs706524	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs706526	0.82[AMR][1000 genomes]
rs706531	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs706532	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs706533	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs706538	0.82[AMR][1000 genomes]
rs7132590	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7134721	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7298162	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7953171	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7963603	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7963856	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829837	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs829987	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs853656	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26169400-26185400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:26170800-26185600	Weak transcription	Aorta	Aorta
3	chr12:26171000-26183800	Weak transcription	Hela-S3	cervix
4	chr12:26171000-26190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:26173400-26186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:26174600-26185600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:26174800-26185600	Weak transcription	Ovary	ovary
8	chr12:26175000-26190600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:26175000-26191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:26175200-26186800	Weak transcription	Psoas Muscle	Psoas
11	chr12:26175200-26190800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:26175400-26185800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:26175400-26190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:26176000-26184200	Weak transcription	Left Ventricle	heart
15	chr12:26179800-26186000	Enhancers	Colon Smooth Muscle	Colon
16	chr12:26180000-26188200	Enhancers	NHDF-Ad	bronchial
17	chr12:26180200-26188200	Enhancers	Brain Hippocampus Middle	brain
18	chr12:26180600-26183800	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:26180600-26184400	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:26180600-26187400	Weak transcription	NH-A	brain
21	chr12:26180800-26188200	Enhancers	Brain Substantia Nigra	brain
22	chr12:26180800-26195000	Weak transcription	HSMM	muscle
23	chr12:26181000-26183400	Weak transcription	Fetal Kidney	kidney
24	chr12:26181000-26184200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:26181000-26195200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:26181200-26183600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:26181400-26184200	Enhancers	Osteobl	bone
28	chr12:26181800-26183600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr12:26181800-26185200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:26182000-26183600	Enhancers	Brain Anterior Caudate	brain
31	chr12:26182000-26184000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:26182200-26186800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:26182200-26186800	Weak transcription	Pancreas	Pancrea
34	chr12:26182200-26190600	Weak transcription	Gastric	stomach
35	chr12:26182200-26195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:26182400-26183600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:26182400-26184200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:26182400-26185600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:26182400-26186000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:26182600-26183400	Enhancers	Fetal Lung	lung
41	chr12:26182600-26184400	Weak transcription	Right Atrium	heart
42	chr12:26182600-26184800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:26182600-26185000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:26182600-26185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:26182600-26185200	Weak transcription	NHLF	lung
46	chr12:26182600-26185400	Weak transcription	Fetal Intestine Small	intestine
47	chr12:26182600-26185600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:26182600-26188200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:26182600-26189800	Weak transcription	Fetal Intestine Large	intestine
50	chr12:26183000-26187000	Weak transcription	Brain Inferior Temporal Lobe	brain

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