Variant report

Variant	rs10505994
Chromosome Location	chr12:26423929-26423930
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26422309..26424340-chr12:26424935..26427133,2	MCF-7	breast:
2	chr12:26274883..26277038-chr12:26421953..26424842,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123095	Chromatin interaction
ENSG00000123096	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12422927	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12423059	0.98[ASN][1000 genomes]
rs12426603	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1351336	0.89[EUR][1000 genomes]
rs1480039	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16915737	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16930376	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17467330	0.89[EUR][1000 genomes]
rs17467365	0.89[EUR][1000 genomes]
rs34623765	0.97[ASN][1000 genomes]
rs55965428	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73072448	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7955904	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.89[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	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv983496	chr12:26407082-26428038	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26416800-26424200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:26420400-26424000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:26420400-26424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:26420400-26424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:26421000-26429000	Enhancers	Fetal Intestine Small	intestine
6	chr12:26421600-26424800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:26421600-26426000	Enhancers	HSMM	muscle
8	chr12:26421800-26435800	Weak transcription	Gastric	stomach
9	chr12:26422000-26424200	Weak transcription	HepG2	liver
10	chr12:26422000-26424600	Weak transcription	Pancreas	Pancrea
11	chr12:26422600-26424600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:26422600-26427000	Weak transcription	Small Intestine	intestine
13	chr12:26422600-26429200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr12:26423000-26424400	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:26423000-26424400	Weak transcription	Right Atrium	heart
16	chr12:26423000-26424400	Weak transcription	NHDF-Ad	bronchial
17	chr12:26423000-26424600	Enhancers	NH-A	brain
18	chr12:26423000-26424800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:26423200-26424400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:26423200-26424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:26423200-26424400	Weak transcription	Left Ventricle	heart
22	chr12:26423200-26424400	Weak transcription	Right Ventricle	heart
23	chr12:26423200-26424600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:26423200-26424600	Weak transcription	Adipose Nuclei	Adipose
25	chr12:26423200-26424600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:26423200-26425000	Weak transcription	Lung	lung
27	chr12:26423200-26427200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:26423400-26424000	Enhancers	K562	blood
29	chr12:26423400-26424400	Weak transcription	Fetal Heart	heart
30	chr12:26423400-26424400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:26423400-26424600	Weak transcription	Brain Substantia Nigra	brain
32	chr12:26423400-26424600	Weak transcription	Ovary	ovary
33	chr12:26423600-26424000	Weak transcription	Fetal Intestine Large	intestine
34	chr12:26423600-26424400	Weak transcription	Psoas Muscle	Psoas
35	chr12:26423600-26426800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:26423800-26424200	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:26423800-26424200	Enhancers	A549	lung
38	chr12:26423800-26424400	Enhancers	GM12878-XiMat	blood
39	chr12:26423800-26424600	Enhancers	Hela-S3	cervix
40	chr12:26423800-26425000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:26423800-26425400	Enhancers	HSMMtube	muscle
42	chr12:26423800-26426000	Enhancers	Osteobl	bone
43	chr12:26423800-26426800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:26423800-26427400	Enhancers	NHEK	skin
45	chr12:26423800-26429000	Enhancers	HMEC	breast
46	chr12:26423800-26429200	Enhancers	Stomach Mucosa	stomach

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