Variant report

Variant	rs59061515
Chromosome Location	chr12:122593931-122593932
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122592661..122594495-chr12:122598753..122600472,2	K562	blood:
2	chr12:122514781..122518776-chr12:122593485..122598871,7	MCF-7	breast:
3	chr12:122584343..122586500-chr12:122592912..122594836,2	K562	blood:
4	chr12:122593313..122595927-chr12:122601450..122604271,2	K562	blood:
5	chr12:122584343..122586345-chr12:122592314..122594836,2	K562	blood:
6	chr12:122515231..122521385-chr12:122592674..122599384,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55769514	0.85[AFR][1000 genomes]
rs55922912	0.85[AFR][1000 genomes]
rs58019231	0.85[AFR][1000 genomes]
rs60695301	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60746592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417676	0.98[AFR][1000 genomes];0.90[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	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
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122583200-122612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122583800-122607600	Weak transcription	Fetal Brain Female	brain
3	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122584800-122601200	Weak transcription	Dnd41	blood
5	chr12:122585000-122595800	Weak transcription	Fetal Kidney	kidney
6	chr12:122585400-122601400	Weak transcription	Brain Germinal Matrix	brain
7	chr12:122587400-122598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:122588400-122594800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr12:122588400-122594800	Genic enhancers	K562	blood
10	chr12:122588400-122595400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:122588400-122596800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:122588800-122594800	Genic enhancers	Fetal Intestine Small	intestine
13	chr12:122588800-122595400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:122589200-122594600	Enhancers	Left Ventricle	heart
15	chr12:122589200-122594800	Enhancers	Colonic Mucosa	Colon
16	chr12:122589800-122594600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:122590000-122594200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:122590200-122594800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:122590400-122594400	Enhancers	Small Intestine	intestine
20	chr12:122590400-122594400	Enhancers	A549	lung
21	chr12:122590400-122594600	Enhancers	Psoas Muscle	Psoas
22	chr12:122590600-122594000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:122590600-122594400	Enhancers	Primary T cells from cord blood	blood
24	chr12:122590800-122594400	Enhancers	HMEC	breast
25	chr12:122591000-122594400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:122591000-122601800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:122591000-122606000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:122591200-122594600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:122591200-122600600	Weak transcription	Thymus	Thymus
30	chr12:122591200-122601400	Weak transcription	Primary B cells from cord blood	blood
31	chr12:122591200-122601400	Weak transcription	Esophagus	oesophagus
32	chr12:122591200-122602800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:122591400-122598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:122591800-122594600	Enhancers	Spleen	Spleen
35	chr12:122592000-122594400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:122592000-122595200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:122592000-122597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:122592000-122601200	Weak transcription	Fetal Lung	lung
39	chr12:122592200-122594400	Weak transcription	Brain Anterior Caudate	brain
40	chr12:122592200-122595800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:122592200-122596000	Weak transcription	Liver	Liver
42	chr12:122592200-122598200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:122592200-122601000	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:122592400-122594000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:122592400-122595800	Enhancers	Hela-S3	cervix
47	chr12:122592400-122599000	Weak transcription	Right Atrium	heart
48	chr12:122592400-122600600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:122592400-122600600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:122592400-122601000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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