Variant report

Variant	rs58276954
Chromosome Location	chr12:123082096-123082097
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	chr12:123081134..123084093-chr12:123088204..123090848,2	MCF-7	breast:
2	chr12:123081153..123083342-chr12:123085187..123087941,2	K562	blood:

Variant related genes	Relation type
ENSG00000184445	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55817227	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55935830	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56019922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56977093	0.84[AFR][1000 genomes]
rs56990369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57142071	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57766838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58459934	0.81[AFR][1000 genomes]
rs60586933	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61062446	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61275910	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61585633	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6489161	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134209	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7297776	0.90[AFR][1000 genomes]
rs7307052	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960674	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972727	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7973067	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases
3	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2761772	chr12:123045674-123115508	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
3	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
4	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
11	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:123014400-123084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:123014600-123085400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:123015600-123115000	Strong transcription	Dnd41	blood
15	chr12:123022200-123084600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
17	chr12:123029200-123085000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:123029200-123107600	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:123032600-123095400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:123037200-123113000	Weak transcription	Brain Anterior Caudate	brain
21	chr12:123037600-123095400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:123037800-123100600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
24	chr12:123042600-123107200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:123046400-123084800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:123050800-123112600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:123050800-123115200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:123057400-123084400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:123058600-123110200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:123060200-123113000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:123067200-123094200	Weak transcription	Fetal Kidney	kidney
34	chr12:123067400-123095600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:123067600-123090000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:123067800-123089200	Weak transcription	Placenta	Placenta
37	chr12:123068000-123095400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:123069600-123099400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:123070600-123089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:123071200-123095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:123072600-123089200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:123072600-123095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:123072800-123087600	Weak transcription	Left Ventricle	heart
44	chr12:123075000-123082800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:123075200-123082800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:123075200-123083200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:123075800-123085400	Strong transcription	Fetal Stomach	stomach
48	chr12:123076000-123083800	Weak transcription	HepG2	liver
49	chr12:123076000-123094000	Weak transcription	Osteobl	bone
50	chr12:123076200-123089400	Weak transcription	NHLF	lung

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