Variant report

Variant	rs73298611
Chromosome Location	chr12:32132795-32132796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32131073..32133229-chr12:32139657..32141267,2	K562	blood:
2	chr12:31881717..31883669-chr12:32131074..32133746,2	K562	blood:

Variant related genes	Relation type
ENSG00000174718	Chromatin interaction
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1684130	1.00[AMR][1000 genomes]
rs57655004	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59685434	1.00[AMR][1000 genomes]
rs60387118	1.00[AMR][1000 genomes]
rs61353224	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294842	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294846	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294866	1.00[AMR][1000 genomes]
rs73294878	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294884	1.00[AMR][1000 genomes]
rs73294886	1.00[AMR][1000 genomes]
rs73294887	1.00[AMR][1000 genomes]
rs73298610	1.00[AMR][1000 genomes]
rs73298612	1.00[AMR][1000 genomes]
rs73298627	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers 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 target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
7	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32150800	Weak transcription	NHLF	lung
2	chr12:32114800-32134000	Weak transcription	HMEC	breast
3	chr12:32116000-32141800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
5	chr12:32120600-32141600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:32120800-32140400	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr12:32121200-32139000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr12:32121800-32141600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr12:32122600-32137800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr12:32122600-32138400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:32122600-32139000	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr12:32123200-32137800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:32123200-32138800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:32123200-32139600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr12:32123200-32143800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr12:32123400-32143200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr12:32123800-32133400	Weak transcription	NHDF-Ad	bronchial
18	chr12:32123800-32143200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr12:32124000-32133600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr12:32124600-32140000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr12:32124800-32135400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:32125200-32133800	Weak transcription	Osteobl	bone
23	chr12:32125200-32134000	Weak transcription	Fetal Heart	heart
24	chr12:32125600-32134400	Weak transcription	HepG2	liver
25	chr12:32127000-32133600	Weak transcription	HSMM	muscle
26	chr12:32127200-32133800	Weak transcription	HSMMtube	muscle
27	chr12:32127400-32133800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:32127400-32134000	Weak transcription	Brain Angular Gyrus	brain
29	chr12:32127400-32134000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:32127600-32133600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:32127600-32133800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:32127600-32133800	Weak transcription	Psoas Muscle	Psoas
33	chr12:32127600-32134000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:32127600-32134000	Weak transcription	Brain Anterior Caudate	brain
35	chr12:32127800-32133600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:32127800-32134000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:32127800-32134000	Weak transcription	NHEK	skin
38	chr12:32128400-32138600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr12:32128400-32138800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr12:32128800-32138200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
41	chr12:32128800-32138400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr12:32128800-32139800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr12:32128800-32150600	Weak transcription	Hela-S3	cervix
44	chr12:32129000-32133600	Weak transcription	Fetal Kidney	kidney
45	chr12:32129000-32133800	Weak transcription	Brain Substantia Nigra	brain
46	chr12:32129200-32132800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:32129200-32133400	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr12:32129200-32133400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr12:32129400-32133000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:32129400-32133400	ZNF genes & repeats	Fetal Stomach	stomach

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