Variant report

Variant	rs56740627
Chromosome Location	chr12:121498352-121498353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121498251..121499029-chr12:121533532..121534500,2	MCF-7	breast:
2	chr12:121442839..121443768-chr12:121497604..121498594,3	MCF-7	breast:
3	chr12:121462116..121464172-chr12:121497468..121500006,2	MCF-7	breast:
4	chr12:121463705..121464632-chr12:121497652..121498532,2	MCF-7	breast:
5	chr12:121498108..121499039-chr12:121533443..121534521,4	MCF-7	breast:
6	chr12:121498058..121498974-chr12:121533466..121534380,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11065413	1.00[EUR][1000 genomes]
rs11065414	1.00[ASN][1000 genomes]
rs11065415	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065416	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065417	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065426	1.00[EUR][1000 genomes]
rs12309186	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311339	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12321293	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58037687	1.00[EUR][1000 genomes]
rs60572958	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121497400-121498400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:121497400-121498400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr12:121497400-121498600	Active TSS	Rectal Smooth Muscle	rectum
4	chr12:121497800-121498400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:121497800-121498400	Active TSS	Brain Hippocampus Middle	brain
6	chr12:121497800-121498400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:121497800-121498600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:121497800-121498600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr12:121497800-121498600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:121497800-121498600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:121497800-121498600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:121497800-121498600	Flanking Active TSS	Liver	Liver
13	chr12:121497800-121498600	Active TSS	Brain Anterior Caudate	brain
14	chr12:121497800-121498600	Active TSS	Brain Cingulate Gyrus	brain
15	chr12:121497800-121498600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:121497800-121498600	Active TSS	Duodenum Mucosa	Duodenum
17	chr12:121497800-121498600	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr12:121497800-121498600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr12:121497800-121498600	Enhancers	Dnd41	blood
20	chr12:121497800-121498600	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:121497800-121498600	Flanking Active TSS	Hela-S3	cervix
22	chr12:121497800-121498600	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:121497800-121498600	Active TSS	NHDF-Ad	bronchial
24	chr12:121498000-121498400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:121498000-121498400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:121498000-121498400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:121498000-121498400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:121498000-121498400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr12:121498000-121498400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:121498000-121498400	Active TSS	Fetal Lung	lung
31	chr12:121498000-121498400	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr12:121498000-121498400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr12:121498000-121498400	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr12:121498000-121498400	Flanking Active TSS	Thymus	Thymus
35	chr12:121498000-121498400	Active TSS	HSMM	muscle
36	chr12:121498000-121498600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:121498000-121498600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:121498000-121498600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr12:121498000-121498600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:121498000-121498600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:121498000-121498600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr12:121498000-121498600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr12:121498000-121498600	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr12:121498000-121498600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr12:121498000-121498600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr12:121498000-121498600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr12:121498000-121498600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr12:121498000-121498600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr12:121498000-121498600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr12:121498000-121498600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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