Variant report

Variant	rs73412976
Chromosome Location	chr12:118768599-118768600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118765603..118769564-chr12:118810838..118814625,4	K562	blood:
2	chr12:118742809..118745415-chr12:118767577..118770424,2	MCF-7	breast:
3	chr12:118758501..118762498-chr12:118764368..118769658,5	K562	blood:
4	chr12:118763801..118766450-chr12:118767353..118769145,2	MCF-7	breast:
5	chr12:118763625..118770467-chr12:118808483..118814296,9	K562	blood:
6	chr12:118754566..118756895-chr12:118766418..118769131,2	K562	blood:

Variant related genes	Relation type
ENSG00000111707	Chromatin interaction
ENSG00000270482	Chromatin interaction
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61129343	1.00[AMR][1000 genomes]
rs73412979	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv560390	chr12:118756336-118778232	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:118748000-118772400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:118754600-118775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:118757200-118769000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:118758400-118769000	Weak transcription	Pancreas	Pancrea
10	chr12:118762000-118769000	Weak transcription	Fetal Thymus	thymus
11	chr12:118763000-118773800	Weak transcription	Dnd41	blood
12	chr12:118763400-118770800	Weak transcription	Thymus	Thymus
13	chr12:118763800-118769000	Weak transcription	Left Ventricle	heart
14	chr12:118764000-118774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:118764800-118769000	Enhancers	Osteobl	bone
16	chr12:118764800-118769200	Enhancers	Fetal Lung	lung
17	chr12:118764800-118769200	Enhancers	NHLF	lung
18	chr12:118765200-118773000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:118765400-118771000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:118765400-118771400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:118765400-118771600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:118765800-118770600	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:118766400-118769200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:118766600-118768800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:118766600-118770600	Enhancers	K562	blood
26	chr12:118766800-118769200	Enhancers	NHDF-Ad	bronchial
27	chr12:118767000-118768600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:118767000-118775000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:118767200-118768600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:118767200-118768600	Weak transcription	Brain Angular Gyrus	brain
31	chr12:118767200-118774000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:118767400-118769200	Enhancers	HUVEC	blood vessel
33	chr12:118767400-118778600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:118767600-118769000	Enhancers	Duodenum Mucosa	Duodenum
35	chr12:118767800-118768600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:118767800-118769000	Enhancers	HSMMtube	muscle
37	chr12:118767800-118769200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr12:118767800-118770000	Enhancers	Fetal Intestine Large	intestine
39	chr12:118767800-118775200	Weak transcription	HSMM	muscle
40	chr12:118768000-118768600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr12:118768000-118768800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:118768000-118769200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr12:118768000-118769200	Enhancers	NHEK	skin
44	chr12:118768200-118768600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:118768200-118768600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:118768200-118768600	Enhancers	Fetal Heart	heart
47	chr12:118768200-118768600	Enhancers	Gastric	stomach
48	chr12:118768200-118768600	Enhancers	A549	lung
49	chr12:118768200-118768800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:118768200-118768800	Enhancers	Primary T cells from cord blood	blood

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