Variant report

Variant	rs10505988
Chromosome Location	chr12:26184515-26184516
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26183705..26186106-chr12:26190195..26191790,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11048361	1.00[EUR][1000 genomes]
rs12298651	1.00[EUR][1000 genomes]
rs12300422	1.00[EUR][1000 genomes]
rs12301099	1.00[EUR][1000 genomes]
rs12304325	1.00[EUR][1000 genomes]
rs12309877	1.00[EUR][1000 genomes]
rs12312956	1.00[EUR][1000 genomes]
rs12315057	1.00[EUR][1000 genomes]
rs12320323	1.00[EUR][1000 genomes]
rs16929675	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16929962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17353650	1.00[EUR][1000 genomes]
rs17361357	1.00[EUR][1000 genomes]
rs17460863	1.00[EUR][1000 genomes]
rs58285731	1.00[AMR][1000 genomes]
rs9804938	1.00[EUR][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	chr12:26171000-26190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:26173400-26186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:26174600-26185600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:26174800-26185600	Weak transcription	Ovary	ovary
7	chr12:26175000-26190600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:26175000-26191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:26175200-26186800	Weak transcription	Psoas Muscle	Psoas
10	chr12:26175200-26190800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:26175400-26185800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:26175400-26190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:26179800-26186000	Enhancers	Colon Smooth Muscle	Colon
14	chr12:26180000-26188200	Enhancers	NHDF-Ad	bronchial
15	chr12:26180200-26188200	Enhancers	Brain Hippocampus Middle	brain
16	chr12:26180600-26187400	Weak transcription	NH-A	brain
17	chr12:26180800-26188200	Enhancers	Brain Substantia Nigra	brain
18	chr12:26180800-26195000	Weak transcription	HSMM	muscle
19	chr12:26181000-26195200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:26181800-26185200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:26182200-26186800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:26182200-26186800	Weak transcription	Pancreas	Pancrea
23	chr12:26182200-26190600	Weak transcription	Gastric	stomach
24	chr12:26182200-26195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:26182400-26185600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:26182400-26186000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:26182600-26184800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:26182600-26185000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:26182600-26185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:26182600-26185200	Weak transcription	NHLF	lung
31	chr12:26182600-26185400	Weak transcription	Fetal Intestine Small	intestine
32	chr12:26182600-26185600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:26182600-26188200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:26182600-26189800	Weak transcription	Fetal Intestine Large	intestine
35	chr12:26183000-26187000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:26183000-26187400	Weak transcription	HUVEC	blood vessel
37	chr12:26183600-26184800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:26183600-26185200	Weak transcription	Brain Anterior Caudate	brain
39	chr12:26183600-26187800	Weak transcription	Fetal Kidney	kidney
40	chr12:26183600-26188000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:26183600-26190600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:26183800-26185000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:26183800-26187000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:26184000-26185200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:26184200-26184600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:26184200-26184600	Enhancers	Left Ventricle	heart
47	chr12:26184200-26184600	Weak transcription	Osteobl	bone
48	chr12:26184200-26184800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:26184400-26184600	Enhancers	Hela-S3	cervix
50	chr12:26184400-26184800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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