Variant report

Variant	rs73310739
Chromosome Location	chr12:32393270-32393271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10128975	1.00[ASN][1000 genomes]
rs12296246	0.82[AFR][1000 genomes]
rs12298558	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12307772	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12307792	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12308522	0.81[AFR][1000 genomes]
rs12309702	0.89[AFR][1000 genomes]
rs12310014	0.81[AFR][1000 genomes]
rs12312114	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12317181	0.83[AFR][1000 genomes]
rs12317202	0.80[AFR][1000 genomes]
rs12319221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16916339	0.82[AFR][1000 genomes]
rs16919495	1.00[ASN][1000 genomes]
rs16919521	0.89[AFR][1000 genomes]
rs16919525	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs16919527	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28427470	0.82[AFR][1000 genomes]
rs56721887	0.82[ASN][1000 genomes]
rs56859103	0.82[ASN][1000 genomes]
rs59032949	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs60631634	0.82[ASN][1000 genomes]
rs6488039	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7136736	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7136837	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7136969	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7137031	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7137148	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7137554	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7316052	0.82[ASN][1000 genomes]
rs73310707	0.82[AFR][1000 genomes]
rs73310709	0.82[AFR][1000 genomes]
rs73310720	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73310734	0.86[AFR][1000 genomes]
rs73310736	0.86[AFR][1000 genomes]
rs73310737	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7956048	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7957547	0.82[AFR][1000 genomes]
rs7959439	0.85[AFR][1000 genomes]
rs7962134	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7962447	0.89[AFR][1000 genomes]
rs7970958	0.82[AFR][1000 genomes]
rs7971625	0.84[ASN][1000 genomes]
rs7974961	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7977350	0.85[AFR][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	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
2	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
3	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
4	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv541454	chr12:32371080-32401245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32370200-32407800	Weak transcription	Hela-S3	cervix
2	chr12:32371200-32393400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:32371200-32406800	Weak transcription	Primary T cells from cord blood	blood
4	chr12:32371600-32393400	Weak transcription	NHDF-Ad	bronchial
5	chr12:32380000-32401000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:32386800-32394000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:32390400-32397200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:32390600-32393400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:32390600-32393400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:32390600-32393400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:32390600-32394000	Weak transcription	Brain Germinal Matrix	brain
12	chr12:32390600-32399600	Weak transcription	Dnd41	blood
13	chr12:32390600-32400600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:32390600-32402400	Weak transcription	HSMMtube	muscle
15	chr12:32390800-32393800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:32390800-32401600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:32390800-32405400	Weak transcription	Ovary	ovary
18	chr12:32390800-32410600	Weak transcription	Primary B cells from cord blood	blood
19	chr12:32391000-32401000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:32391000-32401400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:32391200-32394000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:32391200-32401000	Weak transcription	Fetal Intestine Small	intestine
23	chr12:32391200-32401600	Weak transcription	Aorta	Aorta
24	chr12:32391200-32405200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:32391200-32408000	Weak transcription	Fetal Brain Female	brain
26	chr12:32391200-32409200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:32391400-32393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:32391400-32401000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:32391600-32401200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:32391600-32402600	Weak transcription	HSMM	muscle
31	chr12:32391600-32408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:32392800-32394400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:32393000-32393400	Enhancers	Osteobl	bone
34	chr12:32393000-32394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:32393000-32394400	Enhancers	NH-A	brain
36	chr12:32393200-32393400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:32393200-32393400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:32393200-32393400	Enhancers	Spleen	Spleen
39	chr12:32393200-32393600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:32393200-32393600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr12:32393200-32393600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:32393200-32393600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:32393200-32393600	Flanking Active TSS	HUVEC	blood vessel
44	chr12:32393200-32393600	Enhancers	NHLF	lung
45	chr12:32393200-32394000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:32393200-32394000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:32393200-32394000	Enhancers	NHEK	skin
48	chr12:32393200-32394200	Enhancers	A549	lung

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