Variant report

Variant	rs12306264
Chromosome Location	chr12:105078697-105078698
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105071012..105073165-chr12:105077860..105080234,2	MCF-7	breast:
2	chr12:105071577..105074645-chr12:105076983..105080645,3	MCF-7	breast:
3	chr12:105077508..105079380-chr12:105079603..105081986,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1014046	0.83[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297080	1.00[MEX][hapmap]
rs12306787	1.00[MEX][hapmap]
rs12306794	1.00[MEX][hapmap]
rs12308463	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317943	1.00[MEX][hapmap]
rs73388201	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73390104	0.86[EUR][1000 genomes]
rs7954613	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105067800-105096000	Weak transcription	K562	blood
2	chr12:105071200-105085800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:105071800-105079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:105071800-105085800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:105072200-105079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:105072200-105089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:105074000-105085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:105074200-105083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:105074400-105079800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:105074600-105079400	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:105074600-105089400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:105075000-105083200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:105076000-105080200	Enhancers	Fetal Stomach	stomach
14	chr12:105076200-105080400	Enhancers	Colon Smooth Muscle	Colon
15	chr12:105076600-105080000	Weak transcription	A549	lung
16	chr12:105076800-105078800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:105076800-105079200	Weak transcription	Small Intestine	intestine
18	chr12:105076800-105079400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:105076800-105079800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:105076800-105081000	Enhancers	Dnd41	blood
21	chr12:105076800-105081600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:105076800-105081800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:105076800-105083600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:105076800-105085600	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:105076800-105086800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:105077000-105079200	Enhancers	Primary B cells from cord blood	blood
27	chr12:105077000-105080800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:105077000-105081200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:105077000-105082600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:105077000-105082600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:105077000-105088600	Weak transcription	Lung	lung
32	chr12:105077000-105089000	Weak transcription	Left Ventricle	heart
33	chr12:105077400-105079400	Enhancers	Fetal Heart	heart
34	chr12:105077400-105079800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:105077400-105080200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:105077600-105079600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:105077600-105079800	Enhancers	Stomach Smooth Muscle	stomach
38	chr12:105077600-105080800	Weak transcription	Fetal Thymus	thymus
39	chr12:105077800-105079800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr12:105078000-105078800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:105078000-105079000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:105078000-105079600	Weak transcription	GM12878-XiMat	blood
43	chr12:105078000-105080200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:105078000-105081400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr12:105078000-105084800	Weak transcription	Brain Anterior Caudate	brain
46	chr12:105078200-105078800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:105078200-105079400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:105078200-105079800	Enhancers	Fetal Brain Female	brain
49	chr12:105078200-105080200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:105078200-105080800	Enhancers	Monocytes-CD14+_RO01746	blood

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