Variant report

Variant	rs12318734
Chromosome Location	chr12:11880202-11880203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11878055..11880603-chr12:11888073..11889716,2	K562	blood:
2	chr12:11839323..11841755-chr12:11878975..11881262,2	MCF-7	breast:
3	chr12:11880124..11883020-chr12:11899873..11902243,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11054440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832161	1.00[AMR][1000 genomes]
rs12302332	1.00[AMR][1000 genomes]
rs12310301	1.00[AMR][1000 genomes]
rs12319475	1.00[AMR][1000 genomes]
rs13377739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16907150	1.00[AMR][1000 genomes]
rs16907207	1.00[LWK][hapmap];0.82[AFR][1000 genomes]
rs16907214	0.88[AFR][1000 genomes]
rs59746341	1.00[AMR][1000 genomes]
rs72550772	1.00[AMR][1000 genomes]
rs7308701	1.00[AMR][1000 genomes]
rs73286656	1.00[AMR][1000 genomes]
rs9971847	1.00[AMR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11870200-11885000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:11873000-11882000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:11873000-11882800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:11873200-11881000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:11873200-11881000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:11873200-11902400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:11873400-11880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:11873400-11894200	Weak transcription	NHLF	lung
10	chr12:11873600-11881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:11873800-11881200	Weak transcription	Osteobl	bone
12	chr12:11874200-11885400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:11875000-11888600	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:11875600-11883400	Enhancers	Stomach Mucosa	stomach
15	chr12:11876400-11880600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr12:11876600-11884200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:11876800-11880800	Enhancers	Fetal Muscle Trunk	muscle
18	chr12:11876800-11885800	Enhancers	Pancreas	Pancrea
19	chr12:11877400-11880400	Weak transcription	Fetal Intestine Large	intestine
20	chr12:11877400-11883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:11877400-11883400	Weak transcription	Psoas Muscle	Psoas
22	chr12:11877400-11883800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:11877400-11886600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:11877600-11881200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:11877600-11883800	Weak transcription	Aorta	Aorta
26	chr12:11877800-11881000	Weak transcription	K562	blood
27	chr12:11877800-11882200	Weak transcription	Colonic Mucosa	Colon
28	chr12:11877800-11883000	Weak transcription	Placenta	Placenta
29	chr12:11878000-11882400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:11878000-11882800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:11878000-11888600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:11878000-11889600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:11878200-11880800	Enhancers	Colon Smooth Muscle	Colon
34	chr12:11878400-11882000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:11878400-11882000	Weak transcription	Fetal Lung	lung
36	chr12:11878400-11884800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:11878600-11880800	Genic enhancers	Primary hematopoietic stem cells	blood
38	chr12:11878600-11881000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:11878600-11882000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:11878600-11884800	Enhancers	Primary B cells from cord blood	blood
41	chr12:11878800-11881000	Weak transcription	NHEK	skin
42	chr12:11878800-11881200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr12:11878800-11883400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:11878800-11883400	Weak transcription	Right Atrium	heart
45	chr12:11878800-11886200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:11879000-11882000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:11879000-11882000	Enhancers	Dnd41	blood
48	chr12:11879000-11882000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:11879000-11884000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:11879000-11884000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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