Variant report

Variant	rs11050417
Chromosome Location	chr12:29889509-29889510
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	chr12:29882421..29885325-chr12:29889009..29890831,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11050418	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11050420	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2054438	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2126891	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60465125	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv528476	chr12:29884553-29895535	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29855800-29891200	Weak transcription	NHLF	lung
2	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:29875400-29891600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:29879400-29891600	Weak transcription	NHDF-Ad	bronchial
5	chr12:29879600-29892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:29879600-29894000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:29879800-29896800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
9	chr12:29880200-29895800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:29881000-29895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:29881400-29890600	Weak transcription	Ovary	ovary
12	chr12:29881600-29890000	Weak transcription	Lung	lung
13	chr12:29881600-29915800	Weak transcription	Brain Substantia Nigra	brain
14	chr12:29882600-29889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:29884400-29891600	Weak transcription	HSMMtube	muscle
16	chr12:29885600-29895800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:29885800-29890600	Weak transcription	Fetal Lung	lung
18	chr12:29885800-29894200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:29886200-29891400	Weak transcription	NH-A	brain
20	chr12:29886400-29889800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:29886400-29889800	Weak transcription	Spleen	Spleen
22	chr12:29886400-29891200	Weak transcription	Osteobl	bone
23	chr12:29886400-29893600	Weak transcription	Hela-S3	cervix
24	chr12:29886400-29894400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:29886600-29891600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:29886800-29895800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:29887200-29890000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:29887400-29902000	Weak transcription	Brain Anterior Caudate	brain
29	chr12:29887400-29915600	Weak transcription	Brain Angular Gyrus	brain
30	chr12:29887800-29890800	Enhancers	Right Ventricle	heart
31	chr12:29888000-29889800	Strong transcription	HSMM	muscle
32	chr12:29888000-29891000	Enhancers	Right Atrium	heart
33	chr12:29888200-29889800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:29888200-29890000	Enhancers	Fetal Brain Male	brain
35	chr12:29888200-29890200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:29888200-29892000	Weak transcription	Aorta	Aorta
37	chr12:29888200-29894800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:29888400-29890600	Weak transcription	Adipose Nuclei	Adipose
39	chr12:29888400-29892200	Weak transcription	HMEC	breast
40	chr12:29888400-29901200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:29888600-29890800	Genic enhancers	Left Ventricle	heart
42	chr12:29888800-29889800	Weak transcription	Fetal Stomach	stomach
43	chr12:29888800-29890600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:29888800-29892000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:29888800-29894200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:29888800-29915600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:29889000-29889800	Weak transcription	Fetal Heart	heart
48	chr12:29889000-29890600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:29889000-29890600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:29889000-29890600	Weak transcription	Colon Smooth Muscle	Colon

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