Variant report

Variant	rs73321732
Chromosome Location	chr12:65039408-65039409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65032387..65033941-chr12:65038755..65041564,2	K562	blood:
2	chr12:65026550..65029198-chr12:65038213..65040878,2	K562	blood:
3	chr12:65039325..65042042-chr12:65062487..65065547,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55655091	1.00[AFR][1000 genomes]
rs55837927	1.00[AFR][1000 genomes]
rs56210002	1.00[AFR][1000 genomes]
rs56361026	0.95[AFR][1000 genomes]
rs57591736	0.91[AFR][1000 genomes]
rs57892940	0.91[AFR][1000 genomes]
rs58815475	1.00[AFR][1000 genomes]
rs60504329	1.00[AFR][1000 genomes]
rs60961957	0.84[AFR][1000 genomes]
rs61043338	0.91[AFR][1000 genomes]
rs61583185	1.00[AFR][1000 genomes]
rs61603142	1.00[AFR][1000 genomes]
rs61611512	1.00[AFR][1000 genomes]
rs73319681	0.91[AFR][1000 genomes]
rs73319695	0.91[AFR][1000 genomes]
rs73319699	1.00[AFR][1000 genomes]
rs73321717	1.00[AFR][1000 genomes]
rs73321729	1.00[AFR][1000 genomes]
rs73321736	1.00[AFR][1000 genomes]
rs73321741	1.00[AFR][1000 genomes]
rs73321744	1.00[AFR][1000 genomes]
rs73321748	1.00[AFR][1000 genomes]
rs73321754	1.00[AFR][1000 genomes]
rs73321759	1.00[AFR][1000 genomes]
rs73321764	1.00[AFR][1000 genomes]
rs73321766	1.00[AFR][1000 genomes]
rs73321767	1.00[AFR][1000 genomes]
rs73321779	1.00[AFR][1000 genomes]
rs74100723	1.00[AFR][1000 genomes]
rs74100755	1.00[AFR][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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:65022400-65039600	Weak transcription	Osteobl	bone
4	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
5	chr12:65025200-65044000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:65026400-65043200	Weak transcription	Fetal Stomach	stomach
7	chr12:65027400-65041800	Weak transcription	Spleen	Spleen
8	chr12:65027800-65047600	Weak transcription	Psoas Muscle	Psoas
9	chr12:65028200-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:65028400-65047400	Weak transcription	NHDF-Ad	bronchial
11	chr12:65028400-65047400	Weak transcription	NHLF	lung
12	chr12:65028600-65056400	Weak transcription	NHEK	skin
13	chr12:65029000-65041800	Weak transcription	Left Ventricle	heart
14	chr12:65029200-65039800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:65029200-65041000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:65029200-65041600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:65029600-65042600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:65029600-65044000	Weak transcription	Fetal Lung	lung
19	chr12:65031000-65047600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:65031200-65040000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:65031200-65043400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:65031200-65043600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:65031200-65043800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:65031400-65042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:65031400-65043400	Weak transcription	Small Intestine	intestine
26	chr12:65032200-65040000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:65032200-65040600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:65032600-65041800	Weak transcription	Fetal Heart	heart
29	chr12:65033000-65041800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:65033000-65052600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:65033400-65043200	Weak transcription	HepG2	liver
32	chr12:65033400-65043400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:65033600-65059400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:65033800-65043800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:65034000-65042000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:65034000-65043600	Weak transcription	Primary B cells from cord blood	blood
37	chr12:65034200-65043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:65034400-65041000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:65034600-65042600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:65034800-65042800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:65035000-65040600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:65035400-65043400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:65036000-65041000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:65036400-65041000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:65037200-65040800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr12:65037400-65039800	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:65037400-65041600	Weak transcription	Lung	lung
48	chr12:65037400-65045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:65037600-65040400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:65038000-65041800	Weak transcription	GM12878-XiMat	blood

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