Variant report

Variant	rs73258633
Chromosome Location	chr12:10306117-10306118
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10305940..10306484-chr12:10342703..10343621,2	MCF-7	breast:
2	chr12:10305944..10306449-chr12:10714647..10715601,2	MCF-7	breast:
3	chr12:10305922..10306441-chr12:10343128..10344030,2	K562	blood:
4	chr12:10305467..10306793-chr12:10342493..10344173,14	MCF-7	breast:
5	chr12:10305977..10306953-chr12:10328333..10329049,2	MCF-7	breast:
6	chr12:10305112..10307480-chr12:10310212..10312398,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10734818	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845052	1.00[ASN][1000 genomes]
rs17740817	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34300167	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34624528	0.96[EUR][1000 genomes]
rs34733039	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34925630	1.00[ASN][1000 genomes]
rs35311664	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35335503	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35492478	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35553961	0.96[EUR][1000 genomes]
rs57056622	0.96[EUR][1000 genomes]
rs6488266	1.00[ASN][1000 genomes]
rs7135302	1.00[ASN][1000 genomes]
rs73258637	1.00[ASN][1000 genomes]
rs7964641	1.00[ASN][1000 genomes]
rs9971656	1.00[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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10305600-10306600	Active TSS	Fetal Brain Male	brain
2	chr12:10305600-10307000	Active TSS	Brain Angular Gyrus	brain
3	chr12:10305600-10307000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr12:10305800-10306200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:10305800-10306200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:10305800-10306200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:10305800-10306200	Active TSS	GM12878-XiMat	blood
8	chr12:10305800-10306200	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:10305800-10306400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:10305800-10306400	Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr12:10305800-10306400	Active TSS	Primary T cells from cord blood	blood
12	chr12:10305800-10306400	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr12:10305800-10306400	Active TSS	Thymus	Thymus
14	chr12:10305800-10306600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr12:10305800-10306600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:10305800-10306600	Active TSS	Brain Germinal Matrix	brain
17	chr12:10305800-10306600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr12:10305800-10306600	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr12:10305800-10306600	Active TSS	Rectal Smooth Muscle	rectum
20	chr12:10305800-10306600	Active TSS	Stomach Mucosa	stomach
21	chr12:10305800-10306800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:10305800-10306800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
23	chr12:10305800-10306800	Active TSS	Brain Hippocampus Middle	brain
24	chr12:10305800-10306800	Active TSS	Fetal Kidney	kidney
25	chr12:10305800-10307000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:10305800-10307000	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr12:10305800-10307000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:10305800-10307000	Active TSS	Colon Smooth Muscle	Colon
29	chr12:10305800-10307000	Active TSS	Fetal Brain Female	brain
30	chr12:10305800-10307000	Active TSS	Right Ventricle	heart
31	chr12:10305800-10307000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr12:10305800-10307000	Active TSS	NH-A	brain
33	chr12:10306000-10306200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:10306000-10306200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:10306000-10306200	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr12:10306000-10306200	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr12:10306000-10306200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:10306000-10306200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:10306000-10306200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:10306000-10306200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:10306000-10306200	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr12:10306000-10306200	Active TSS	Right Atrium	heart
43	chr12:10306000-10306200	Active TSS	HepG2	liver
44	chr12:10306000-10306400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:10306000-10306400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:10306000-10306400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:10306000-10306400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:10306000-10306400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:10306000-10306400	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr12:10306000-10306400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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