Variant report

Variant	rs12310380
Chromosome Location	chr12:104478790-104478791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104476557..104478929-chr12:104484646..104487240,2	MCF-7	breast:
2	chr12:104458144..104460180-chr12:104477889..104480758,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11111902	0.83[AFR][1000 genomes]
rs11111903	0.83[AFR][1000 genomes]
rs11610612	0.86[ASN][1000 genomes]
rs12308134	0.83[AFR][1000 genomes]
rs12317222	0.83[AFR][1000 genomes]
rs12317467	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs12318352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035279	0.81[CHB][hapmap]
rs17035291	0.89[CEU][hapmap]
rs3765111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4255604	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs4338595	0.80[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
3	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:104460000-104482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:104460000-104496800	Weak transcription	HepG2	liver
7	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
8	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
9	chr12:104460600-104480600	Weak transcription	K562	blood
10	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:104465200-104480000	Weak transcription	A549	lung
12	chr12:104466000-104480600	Weak transcription	Stomach Mucosa	stomach
13	chr12:104466200-104480400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:104470600-104486200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:104472000-104497400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:104472400-104478800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:104472400-104486200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:104472400-104497400	Strong transcription	Placenta	Placenta
21	chr12:104472400-104501200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:104472600-104480800	Strong transcription	Primary T cells from cord blood	blood
23	chr12:104472600-104485400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:104472600-104485800	Strong transcription	Dnd41	blood
25	chr12:104472600-104497200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:104472800-104485000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:104473000-104479800	Weak transcription	Fetal Intestine Small	intestine
28	chr12:104473600-104478800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:104474400-104485800	Strong transcription	Osteobl	bone
30	chr12:104475000-104478800	Strong transcription	Left Ventricle	heart
31	chr12:104475000-104485000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:104475600-104478800	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:104475800-104478800	Strong transcription	Fetal Thymus	thymus
34	chr12:104475800-104489400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr12:104476000-104478800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:104476200-104478800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:104476200-104478800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:104476200-104479800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:104476200-104485400	Strong transcription	HSMM	muscle
40	chr12:104476200-104497400	Strong transcription	Adipose Nuclei	Adipose
41	chr12:104476400-104481800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:104476600-104478800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr12:104476600-104478800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:104476600-104482600	Strong transcription	Fetal Brain Male	brain
45	chr12:104476600-104484400	Strong transcription	Brain Germinal Matrix	brain
46	chr12:104476600-104485200	Strong transcription	Fetal Brain Female	brain
47	chr12:104476600-104486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:104476600-104488200	Strong transcription	Fetal Lung	lung
49	chr12:104477000-104486200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:104477200-104480200	Weak transcription	NHDF-Ad	bronchial

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