Variant report

Variant	rs62469883
Chromosome Location	chr7:65217663-65217664
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:65217635-65217917	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:65217624-65217969	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SNORA22	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2272186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58936152	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62469868	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62469871	1.00[AFR][1000 genomes]
rs62469874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62469876	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62469877	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62469878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62469879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62469880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62469882	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62469888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62469898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62469920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62469922	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62469924	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs62469926	1.00[AFR][1000 genomes]
rs62469935	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62469938	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62469939	1.00[AFR][1000 genomes]
rs62470862	1.00[AFR][1000 genomes]
rs62470863	1.00[AFR][1000 genomes]
rs62470864	1.00[AFR][1000 genomes]
rs62470868	1.00[AFR][1000 genomes]
rs62470870	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	esv3339156	chr7:64510176-65349050	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv2759534	chr7:64551274-65373851	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	esv2764020	chr7:64594065-65351820	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv1018447	chr7:64609892-65308719	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv538897	chr7:64609892-65308719	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv1029942	chr7:64679680-65371565	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv538903	chr7:64679680-65371565	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv1019667	chr7:64679680-65380603	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	esv2757227	chr7:64694241-65373851	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
15	nsv1025207	chr7:65092426-65339879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
16	nsv1033400	chr7:65092426-65339879	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	28 gene(s)	inside rSNPs	diseases
17	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
18	nsv1020622	chr7:65161364-65339879	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr7:65215000-65217800	Active TSS	Colon Smooth Muscle	Colon
2	chr7:65215000-65218600	Active TSS	GM12878-XiMat	blood
3	chr7:65215000-65219600	Active TSS	Stomach Smooth Muscle	stomach
4	chr7:65216600-65228000	Weak transcription	Stomach Mucosa	stomach
5	chr7:65216600-65235400	Weak transcription	Spleen	Spleen
6	chr7:65216800-65217800	Active TSS	HepG2	liver
7	chr7:65216800-65218200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:65216800-65219000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:65216800-65220000	Weak transcription	Right Atrium	heart
10	chr7:65216800-65225400	Weak transcription	Aorta	Aorta
11	chr7:65216800-65227800	Weak transcription	Gastric	stomach
12	chr7:65216800-65235200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:65216800-65235200	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:65216800-65235200	Weak transcription	Left Ventricle	heart
15	chr7:65216800-65235200	Weak transcription	Lung	lung
16	chr7:65216800-65235200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:65217000-65235200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:65217200-65217800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr7:65217200-65218000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:65217200-65218000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr7:65217200-65218000	Enhancers	Small Intestine	intestine
22	chr7:65217200-65218000	Transcr. at gene 5' and 3'	K562	blood
23	chr7:65217200-65219400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr7:65217200-65235200	Weak transcription	Psoas Muscle	Psoas
25	chr7:65217400-65217800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:65217400-65217800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:65217400-65217800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:65217400-65217800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:65217400-65217800	Weak transcription	Fetal Thymus	thymus
30	chr7:65217400-65217800	Enhancers	HUVEC	blood vessel
31	chr7:65217400-65218000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:65217400-65218000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:65217400-65218000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:65217400-65218000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:65217400-65218000	Enhancers	Brain Angular Gyrus	brain
36	chr7:65217400-65218000	Enhancers	Brain Substantia Nigra	brain
37	chr7:65217400-65218000	Enhancers	Duodenum Mucosa	Duodenum
38	chr7:65217400-65218000	Weak transcription	Placenta	Placenta
39	chr7:65217400-65218000	Active TSS	NHEK	skin
40	chr7:65217400-65218200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:65217400-65218200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:65217400-65218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:65217400-65218200	Weak transcription	Brain Germinal Matrix	brain
44	chr7:65217400-65218200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:65217400-65218200	Weak transcription	Fetal Intestine Large	intestine
46	chr7:65217400-65218200	Weak transcription	Fetal Lung	lung
47	chr7:65217400-65218200	Weak transcription	Ovary	ovary
48	chr7:65217400-65218400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:65217400-65218400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:65217400-65218400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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