Variant report

Variant	rs73281508
Chromosome Location	chr12:45744115-45744116
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45734789..45737221-chr12:45742624..45745362,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11183016	1.00[AMR][1000 genomes]
rs58337263	1.00[AMR][1000 genomes]
rs59030619	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59846961	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59899152	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60534803	1.00[AMR][1000 genomes]
rs61471266	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279690	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279696	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279698	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279700	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281506	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281507	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281510	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281512	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281519	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281526	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281536	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281545	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281549	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281553	0.86[AFR][1000 genomes]
rs73281555	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281565	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281566	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281571	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281577	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281581	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281585	0.86[AFR][1000 genomes]
rs73281588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281594	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281599	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281602	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283310	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283315	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283320	1.00[AMR][1000 genomes]
rs73283323	1.00[AMR][1000 genomes]
rs73283338	1.00[AMR][1000 genomes]
rs73283340	1.00[AMR][1000 genomes]
rs73283345	1.00[AMR][1000 genomes]
rs73283347	1.00[AMR][1000 genomes]
rs73283352	1.00[AMR][1000 genomes]
rs73283355	1.00[AMR][1000 genomes]
rs73283357	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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
2	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:45722200-45744400	Weak transcription	Esophagus	oesophagus
4	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
6	chr12:45726600-45747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:45734600-45747600	Weak transcription	Stomach Mucosa	stomach
8	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:45737400-45748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:45737800-45744400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:45738800-45754600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:45739200-45752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:45739400-45744200	Weak transcription	Fetal Heart	heart
15	chr12:45739800-45746600	Strong transcription	Primary T cells from cord blood	blood
16	chr12:45740000-45747800	Strong transcription	Fetal Thymus	thymus
17	chr12:45740400-45744400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:45740400-45745600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:45740400-45745600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:45740400-45745800	Strong transcription	Left Ventricle	heart
21	chr12:45740400-45746000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:45740400-45746200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:45740400-45746200	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:45740400-45746600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:45740400-45747200	Strong transcription	Fetal Intestine Large	intestine
26	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:45740600-45744200	Strong transcription	Dnd41	blood
28	chr12:45740600-45745400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:45740600-45745600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:45740600-45745600	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:45740600-45745800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:45740600-45746000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:45740600-45746200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr12:45740800-45745800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:45740800-45748200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:45741000-45752000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:45741400-45745600	Strong transcription	HMEC	breast
39	chr12:45741400-45755400	Weak transcription	Brain Anterior Caudate	brain
40	chr12:45741600-45745200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:45741600-45745200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:45741600-45745200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:45741800-45744400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:45741800-45745200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:45741800-45745200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr12:45741800-45745200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:45741800-45745200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr12:45741800-45745400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:45741800-45745600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:45741800-45745600	Strong transcription	Primary B cells from peripheral blood	blood

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