Variant report

Variant	rs12312090
Chromosome Location	chr12:122870747-122870748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122868336..122870899-chr12:122905126..122907149,2	MCF-7	breast:
2	chr12:122862328..122864567-chr12:122869940..122871996,2	K562	blood:
3	chr12:122869996..122871896-chr12:122958657..122960290,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12297174	1.00[AMR][1000 genomes]
rs12297513	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300062	1.00[AMR][1000 genomes]
rs12303070	1.00[AMR][1000 genomes]
rs12303304	1.00[AMR][1000 genomes]
rs12305053	1.00[AMR][1000 genomes]
rs12314651	1.00[AMR][1000 genomes]
rs12319914	1.00[AMR][1000 genomes]
rs12320418	1.00[AMR][1000 genomes]
rs7294383	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7311062	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959187	1.00[AMR][1000 genomes]
rs7966324	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972719	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976224	1.00[AMR][1000 genomes]
rs7976580	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7977242	0.90[AMR][1000 genomes]
rs7980777	0.81[AFR][1000 genomes];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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
2	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
3	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
4	chr12:122856400-122884200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:122856600-122877000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:122856600-122878200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:122860600-122905000	Weak transcription	Brain Germinal Matrix	brain
8	chr12:122862400-122876400	Weak transcription	Pancreas	Pancrea
9	chr12:122862400-122878600	Weak transcription	Primary B cells from cord blood	blood
10	chr12:122862400-122883800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:122862600-122873400	Weak transcription	NH-A	brain
12	chr12:122862600-122879400	Weak transcription	NHLF	lung
13	chr12:122862600-122881600	Weak transcription	Thymus	Thymus
14	chr12:122862600-122883800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:122862800-122895600	Weak transcription	Small Intestine	intestine
16	chr12:122863000-122876800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:122863000-122879400	Weak transcription	Osteobl	bone
18	chr12:122863000-122883600	Weak transcription	K562	blood
19	chr12:122863000-122883800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:122863200-122879400	Weak transcription	NHDF-Ad	bronchial
21	chr12:122863200-122883800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:122863400-122876600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:122863400-122883800	Weak transcription	Brain Anterior Caudate	brain
24	chr12:122863400-122884000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:122863400-122884200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:122863400-122884600	Weak transcription	Ovary	ovary
27	chr12:122863400-122897400	Weak transcription	Fetal Brain Female	brain
28	chr12:122863400-122897800	Weak transcription	Brain Substantia Nigra	brain
29	chr12:122863800-122873400	Weak transcription	NHEK	skin
30	chr12:122863800-122879600	Weak transcription	HMEC	breast
31	chr12:122863800-122883800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:122863800-122905000	Weak transcription	Dnd41	blood
33	chr12:122864000-122883800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:122864200-122873600	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:122864200-122884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:122864400-122873600	Weak transcription	Left Ventricle	heart
37	chr12:122864400-122883800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:122865000-122877800	Weak transcription	Fetal Thymus	thymus
39	chr12:122865200-122873000	Weak transcription	Hela-S3	cervix
40	chr12:122865200-122876600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:122865200-122878000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:122865200-122879600	Weak transcription	HUVEC	blood vessel
43	chr12:122865200-122880800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:122865200-122883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:122865200-122885000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:122865400-122879400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:122865400-122883800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:122866400-122883600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:122866600-122873200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:122866600-122876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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