Variant report

Variant	rs73417317
Chromosome Location	chr12:123633822-123633823
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123318440..123320805-chr12:123633475..123636263,2	MCF-7	breast:
2	chr12:123625936..123634145-chr12:123634916..123640513,10	K562	blood:
3	chr12:123632948..123634613-chr12:123717747..123719847,2	K562	blood:
4	chr12:123633130..123634910-chr12:123716201..123717715,2	K562	blood:
5	chr12:123633368..123635688-chr12:123701614..123704544,2	MCF-7	breast:
6	chr12:123616297..123618408-chr12:123632574..123634282,2	MCF-7	breast:
7	chr12:123463900..123466022-chr12:123633750..123636695,4	K562	blood:
8	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
9	chr12:123603146..123605205-chr12:123632203..123634341,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000182196	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11061578	0.85[AMR][1000 genomes]
rs12366787	0.86[AFR][1000 genomes]
rs55992397	0.85[AMR][1000 genomes]
rs56140750	0.85[AMR][1000 genomes]
rs57106451	0.85[AMR][1000 genomes]
rs57178349	0.85[AMR][1000 genomes]
rs57641050	0.85[AMR][1000 genomes]
rs57719471	0.85[AMR][1000 genomes]
rs57764857	0.85[AMR][1000 genomes]
rs57794792	0.85[AMR][1000 genomes]
rs58339539	1.00[AMR][1000 genomes]
rs59615440	0.85[AMR][1000 genomes]
rs59708426	0.80[AFR][1000 genomes]
rs59881907	0.85[AMR][1000 genomes]
rs60341983	0.85[AMR][1000 genomes]
rs60358140	0.85[AMR][1000 genomes]
rs60546720	0.85[AMR][1000 genomes]
rs60761837	0.85[AMR][1000 genomes]
rs7299155	0.80[AFR][1000 genomes]
rs7302112	0.85[AMR][1000 genomes]
rs73411076	0.85[AMR][1000 genomes]
rs73411084	0.85[AMR][1000 genomes]
rs73411087	0.85[AMR][1000 genomes]
rs73411088	0.85[AMR][1000 genomes]
rs73411090	0.85[AMR][1000 genomes]
rs73411093	0.85[AMR][1000 genomes]
rs73413226	0.85[AMR][1000 genomes]
rs73413228	0.85[AMR][1000 genomes]
rs73413230	0.85[AMR][1000 genomes]
rs73413236	0.85[AMR][1000 genomes]
rs73413241	0.85[AMR][1000 genomes]
rs73413246	0.85[AMR][1000 genomes]
rs73413263	0.85[AMR][1000 genomes]
rs73413265	0.85[AMR][1000 genomes]
rs73413270	0.85[AMR][1000 genomes]
rs73417324	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417346	0.86[AFR][1000 genomes]
rs73417348	0.86[AFR][1000 genomes]
rs7952760	0.85[AMR][1000 genomes]
rs7964036	0.85[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:102 , 50 per page) page: 1 2 3

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	chr12:123625400-123634600	Weak transcription	Aorta	Aorta
4	chr12:123627000-123634200	Weak transcription	NHEK	skin
5	chr12:123627000-123634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123627200-123634000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:123627200-123634000	Weak transcription	HMEC	breast
8	chr12:123627200-123634000	Weak transcription	HSMMtube	muscle
9	chr12:123627800-123634000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:123627800-123634400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:123628000-123634200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:123628400-123634000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:123628600-123634000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:123628800-123634400	Weak transcription	Esophagus	oesophagus
15	chr12:123629000-123634200	Weak transcription	Osteobl	bone
16	chr12:123631200-123634400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
17	chr12:123631200-123634800	Transcr. at gene 5' and 3'	Thymus	Thymus
18	chr12:123631600-123634000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr12:123631600-123634200	Enhancers	Liver	Liver
20	chr12:123631600-123634400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:123631800-123634000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:123631800-123634200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:123632000-123634600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:123632200-123634400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:123632400-123634400	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:123632600-123634800	Enhancers	Spleen	Spleen
27	chr12:123632800-123634000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr12:123632800-123634000	Enhancers	Brain Hippocampus Middle	brain
29	chr12:123632800-123634400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:123632800-123634400	Enhancers	Left Ventricle	heart
31	chr12:123633000-123634000	Enhancers	Fetal Heart	heart
32	chr12:123633200-123634000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:123633200-123634000	Enhancers	Primary B cells from cord blood	blood
34	chr12:123633200-123634000	Genic enhancers	Rectal Smooth Muscle	rectum
35	chr12:123633200-123634200	Enhancers	Lung	lung
36	chr12:123633200-123634400	Enhancers	Pancreas	Pancrea
37	chr12:123633200-123634600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:123633200-123634600	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr12:123633200-123634600	Enhancers	Right Atrium	heart
40	chr12:123633400-123634000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr12:123633400-123634000	Enhancers	Colonic Mucosa	Colon
42	chr12:123633400-123634400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:123633400-123634400	Enhancers	Brain Substantia Nigra	brain
44	chr12:123633400-123634400	Enhancers	Gastric	stomach
45	chr12:123633400-123634400	Flanking Active TSS	HepG2	liver
46	chr12:123633400-123634600	Enhancers	Fetal Intestine Large	intestine
47	chr12:123633400-123634600	Enhancers	Placenta	Placenta
48	chr12:123633600-123634000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:123633600-123634000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:123633600-123634000	Enhancers	Skeletal Muscle Male	skeletal muscle

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