Variant report

Variant	rs11111892
Chromosome Location	chr12:104484764-104484765
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104473419..104476228-chr12:104483759..104485884,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10861157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111888	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11111900	0.81[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580532	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580691	0.99[ASN][1000 genomes]
rs1485591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34011860	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34071758	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35223676	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35879815	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3763999	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964531	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539123	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7133289	0.93[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7979123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104460000-104496800	Weak transcription	HepG2	liver
3	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
4	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
5	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:104470600-104486200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:104472000-104497400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:104472400-104486200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:104472400-104497400	Strong transcription	Placenta	Placenta
12	chr12:104472400-104501200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:104472600-104485400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:104472600-104485800	Strong transcription	Dnd41	blood
15	chr12:104472600-104497200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:104472800-104485000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:104474400-104485800	Strong transcription	Osteobl	bone
18	chr12:104475000-104485000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:104475800-104489400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr12:104476200-104485400	Strong transcription	HSMM	muscle
21	chr12:104476200-104497400	Strong transcription	Adipose Nuclei	Adipose
22	chr12:104476600-104485200	Strong transcription	Fetal Brain Female	brain
23	chr12:104476600-104486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:104476600-104488200	Strong transcription	Fetal Lung	lung
25	chr12:104477000-104486200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:104477200-104508400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:104478200-104492800	Weak transcription	NHEK	skin
28	chr12:104478400-104492800	Weak transcription	Spleen	Spleen
29	chr12:104478600-104484800	Weak transcription	Small Intestine	intestine
30	chr12:104478600-104487600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:104478600-104487800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:104478600-104499400	Weak transcription	Fetal Heart	heart
33	chr12:104479600-104485200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:104479600-104485800	Strong transcription	Fetal Thymus	thymus
35	chr12:104479600-104486200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:104479600-104486200	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:104479600-104489000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:104479800-104485000	Strong transcription	Ovary	ovary
39	chr12:104479800-104485200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:104479800-104485200	Strong transcription	Fetal Intestine Large	intestine
41	chr12:104479800-104485400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:104479800-104485600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:104479800-104485800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:104480000-104485000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr12:104480000-104508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:104480200-104485200	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:104480200-104485600	Strong transcription	NHDF-Ad	bronchial
48	chr12:104480200-104485800	Strong transcription	Liver	Liver
49	chr12:104480600-104485200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:104480600-104485800	Strong transcription	Rectal Smooth Muscle	rectum

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