Variant report

Variant	rs73417309
Chromosome Location	chr12:123632000-123632001
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123625936..123634145-chr12:123634916..123640513,10	K562	blood:
2	chr12:123624513..123626615-chr12:123631268..123633682,3	K562	blood:
3	chr12:123527304..123529634-chr12:123630952..123633326,2	MCF-7	breast:
4	chr12:123609922..123611870-chr12:123629946..123632018,2	K562	blood:
5	chr12:123616507..123619286-chr12:123631305..123632986,2	K562	blood:
6	chr12:123628455..123632767-chr12:123632779..123636840,7	MCF-7	breast:
7	chr12:123573881..123576493-chr12:123631498..123633206,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11061244	1.00[ASN][1000 genomes]
rs57143069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57190557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58251569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58283587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58463629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58570201	1.00[AMR][1000 genomes]
rs59107122	1.00[AMR][1000 genomes]
rs59312127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60052793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60442043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60543890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60817665	0.85[AFR][1000 genomes]
rs61685353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408811	1.00[AMR][1000 genomes]
rs73408817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411044	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417352	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:123618000-123634200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:123625000-123633600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:123625400-123632200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:123625400-123632200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:123625400-123633800	Weak transcription	Fetal Brain Male	brain
7	chr12:123625400-123634600	Weak transcription	Aorta	Aorta
8	chr12:123627000-123633200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:123627000-123634200	Weak transcription	NHEK	skin
10	chr12:123627000-123634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:123627200-123634000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:123627200-123634000	Weak transcription	HMEC	breast
13	chr12:123627200-123634000	Weak transcription	HSMMtube	muscle
14	chr12:123627400-123633200	Weak transcription	Fetal Brain Female	brain
15	chr12:123627800-123633200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:123627800-123633600	Weak transcription	Stomach Mucosa	stomach
17	chr12:123627800-123633800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:123627800-123634000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:123627800-123634400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:123628000-123632800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:123628000-123633200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:123628000-123633400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:123628000-123633600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:123628000-123633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:123628000-123633600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:123628000-123634200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:123628200-123632800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:123628200-123633000	Weak transcription	Fetal Heart	heart
29	chr12:123628200-123633400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:123628200-123633400	Weak transcription	Fetal Intestine Large	intestine
31	chr12:123628200-123633600	Weak transcription	Fetal Intestine Small	intestine
32	chr12:123628200-123633800	Weak transcription	Fetal Stomach	stomach
33	chr12:123628400-123632600	Weak transcription	Primary T cells from cord blood	blood
34	chr12:123628400-123632800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:123628400-123633200	Weak transcription	Right Atrium	heart
36	chr12:123628400-123633400	Weak transcription	Placenta	Placenta
37	chr12:123628400-123633600	Weak transcription	Psoas Muscle	Psoas
38	chr12:123628400-123633800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:123628400-123634000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:123628600-123632400	Weak transcription	Small Intestine	intestine
41	chr12:123628600-123632800	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:123628600-123633200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:123628600-123633200	Weak transcription	Lung	lung
44	chr12:123628600-123633400	Weak transcription	Gastric	stomach
45	chr12:123628600-123633600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:123628600-123633600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:123628600-123633800	Weak transcription	Adipose Nuclei	Adipose
48	chr12:123628600-123634000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:123628800-123632800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:123628800-123633000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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