Variant report

Variant	rs59268437
Chromosome Location	chr12:46747330-46747331
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46547322..46549360-chr12:46744553..46747432,2	MCF-7	breast:
2	chr12:46746454..46748949-chr12:46848986..46850623,2	MCF-7	breast:
3	chr12:46661464..46663540-chr12:46746275..46747828,2	MCF-7	breast:
4	chr12:46745913..46748762-chr12:47052132..47055018,2	K562	blood:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56818305	0.95[AFR][1000 genomes]
rs58015896	0.95[AFR][1000 genomes]
rs7311320	0.90[AFR][1000 genomes]
rs74081917	0.85[AFR][1000 genomes]
rs74081935	0.95[AFR][1000 genomes]
rs74081980	0.95[AFR][1000 genomes]
rs74081983	0.95[AFR][1000 genomes]
rs74081996	1.00[AFR][1000 genomes]
rs74082091	0.90[AFR][1000 genomes]
rs74082100	0.90[AFR][1000 genomes]
rs74084027	0.90[AFR][1000 genomes]
rs7965500	0.90[AFR][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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46737200-46754800	Weak transcription	Psoas Muscle	Psoas
2	chr12:46737600-46753600	Weak transcription	Pancreas	Pancrea
3	chr12:46737600-46761200	Weak transcription	Gastric	stomach
4	chr12:46743200-46752600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:46743200-46753400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:46743400-46752400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:46743600-46748200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:46743600-46752400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:46743600-46752400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:46743600-46752600	Weak transcription	Right Ventricle	heart
11	chr12:46743600-46754600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:46743800-46747800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:46743800-46752400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:46743800-46752400	Weak transcription	HUVEC	blood vessel
15	chr12:46743800-46752600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:46743800-46752600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:46743800-46752600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:46743800-46752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:46743800-46752800	Weak transcription	Left Ventricle	heart
20	chr12:46743800-46753000	Weak transcription	Lung	lung
21	chr12:46743800-46753200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:46743800-46753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:46744000-46751800	Weak transcription	Primary T cells from cord blood	blood
24	chr12:46744000-46753000	Weak transcription	Dnd41	blood
25	chr12:46744000-46760600	Weak transcription	Spleen	Spleen
26	chr12:46745400-46752600	Weak transcription	Brain Anterior Caudate	brain
27	chr12:46745800-46752600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:46746000-46752600	Weak transcription	Fetal Lung	lung
29	chr12:46746000-46753000	Weak transcription	Ovary	ovary
30	chr12:46746000-46753200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:46746000-46756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:46746400-46752400	Weak transcription	Adipose Nuclei	Adipose
33	chr12:46746400-46752600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:46746600-46747600	Enhancers	Aorta	Aorta
35	chr12:46746600-46752400	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:46746800-46752200	Weak transcription	Placenta	Placenta
37	chr12:46746800-46752400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:46746800-46752800	Weak transcription	Fetal Stomach	stomach
39	chr12:46746800-46752800	Weak transcription	NHLF	lung
40	chr12:46747000-46755600	Weak transcription	Fetal Brain Male	brain
41	chr12:46747200-46752400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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