Variant report

Variant	rs73719720
Chromosome Location	chr6:5172470-5172471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11242997	1.00[ASN][1000 genomes]
rs11242998	1.00[ASN][1000 genomes]
rs13202971	1.00[ASN][1000 genomes]
rs13213703	1.00[ASN][1000 genomes]
rs13217077	1.00[ASN][1000 genomes]
rs13219584	1.00[ASN][1000 genomes]
rs13219950	1.00[ASN][1000 genomes]
rs17133271	1.00[ASN][1000 genomes]
rs17139744	1.00[AMR][1000 genomes]
rs17139776	1.00[ASN][1000 genomes]
rs17139831	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17139838	1.00[ASN][1000 genomes]
rs17139841	1.00[ASN][1000 genomes]
rs17139846	1.00[ASN][1000 genomes]
rs17139848	1.00[ASN][1000 genomes]
rs17139851	1.00[ASN][1000 genomes]
rs17139853	1.00[ASN][1000 genomes]
rs17139856	1.00[ASN][1000 genomes]
rs17139860	1.00[ASN][1000 genomes]
rs34041880	1.00[ASN][1000 genomes]
rs34110180	1.00[ASN][1000 genomes]
rs34120947	1.00[ASN][1000 genomes]
rs34146318	1.00[ASN][1000 genomes]
rs34170037	1.00[ASN][1000 genomes]
rs34211615	1.00[ASN][1000 genomes]
rs34265509	1.00[ASN][1000 genomes]
rs34421021	1.00[ASN][1000 genomes]
rs34449449	1.00[ASN][1000 genomes]
rs34512910	1.00[ASN][1000 genomes]
rs34711553	1.00[ASN][1000 genomes]
rs34713043	1.00[ASN][1000 genomes]
rs34786730	1.00[ASN][1000 genomes]
rs34903116	1.00[ASN][1000 genomes]
rs34908251	1.00[ASN][1000 genomes]
rs34953365	1.00[ASN][1000 genomes]
rs34968006	1.00[ASN][1000 genomes]
rs34968842	1.00[ASN][1000 genomes]
rs35039476	1.00[ASN][1000 genomes]
rs35073344	1.00[ASN][1000 genomes]
rs35218696	1.00[ASN][1000 genomes]
rs35277899	1.00[ASN][1000 genomes]
rs35372007	1.00[ASN][1000 genomes]
rs35525232	1.00[ASN][1000 genomes]
rs35587351	1.00[ASN][1000 genomes]
rs35656919	1.00[ASN][1000 genomes]
rs35864979	1.00[ASN][1000 genomes]
rs35972876	1.00[ASN][1000 genomes]
rs36007403	1.00[ASN][1000 genomes]
rs55728654	1.00[AMR][1000 genomes]
rs56034435	1.00[ASN][1000 genomes]
rs56080716	1.00[AMR][1000 genomes]
rs56358324	1.00[AMR][1000 genomes]
rs57147800	1.00[AMR][1000 genomes]
rs58508775	1.00[ASN][1000 genomes]
rs59361101	1.00[AMR][1000 genomes]
rs59994371	1.00[ASN][1000 genomes]
rs60489951	1.00[ASN][1000 genomes]
rs60890075	1.00[ASN][1000 genomes]
rs61089858	1.00[ASN][1000 genomes]
rs61473991	1.00[AMR][1000 genomes]
rs61739238	1.00[AMR][1000 genomes]
rs62385015	1.00[ASN][1000 genomes]
rs6901286	1.00[ASN][1000 genomes]
rs6921627	1.00[ASN][1000 genomes]
rs6935667	1.00[ASN][1000 genomes]
rs6935687	1.00[ASN][1000 genomes]
rs71555883	1.00[ASN][1000 genomes]
rs71555885	1.00[ASN][1000 genomes]
rs71555886	1.00[ASN][1000 genomes]
rs71557546	1.00[ASN][1000 genomes]
rs71557549	1.00[ASN][1000 genomes]
rs71557550	1.00[ASN][1000 genomes]
rs71557551	1.00[ASN][1000 genomes]
rs73363037	1.00[AMR][1000 genomes]
rs73365051	1.00[ASN][1000 genomes]
rs73365064	1.00[ASN][1000 genomes]
rs73365082	1.00[ASN][1000 genomes]
rs73718025	1.00[AMR][1000 genomes]
rs73718034	1.00[AMR][1000 genomes]
rs73718037	1.00[AMR][1000 genomes]
rs73718042	1.00[AMR][1000 genomes]
rs73718073	1.00[AMR][1000 genomes]
rs73719730	1.00[AMR][1000 genomes]
rs73719732	1.00[AMR][1000 genomes]
rs73719735	1.00[AMR][1000 genomes]
rs73719736	1.00[AMR][1000 genomes]
rs73719737	1.00[AMR][1000 genomes]
rs73719739	1.00[AMR][1000 genomes]
rs73719741	1.00[ASN][1000 genomes]
rs73719753	1.00[AMR][1000 genomes]
rs73719755	1.00[AMR][1000 genomes]
rs73719757	1.00[AMR][1000 genomes]
rs73719758	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
4	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1017821	chr6:5114609-5213200	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538114	chr6:5114609-5213200	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
11	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1022336	chr6:5145194-5200687	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1018984	chr6:5145194-5200801	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5144000-5175400	Weak transcription	HepG2	liver
2	chr6:5145400-5180800	Weak transcription	Fetal Intestine Small	intestine
3	chr6:5153200-5178200	Weak transcription	HMEC	breast
4	chr6:5158600-5174000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:5159800-5174000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:5163800-5177600	Weak transcription	Aorta	Aorta
7	chr6:5163800-5189600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:5164600-5174000	Weak transcription	Brain Substantia Nigra	brain
9	chr6:5164800-5173400	Weak transcription	GM12878-XiMat	blood
10	chr6:5168400-5173400	Weak transcription	Fetal Lung	lung
11	chr6:5170000-5172600	Weak transcription	Fetal Thymus	thymus
12	chr6:5170400-5181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:5171000-5174400	Enhancers	Fetal Kidney	kidney
14	chr6:5172200-5172600	Enhancers	Lung	lung
15	chr6:5172200-5172800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:5172200-5173000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:5172200-5173200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:5172200-5173600	Enhancers	Fetal Muscle Leg	muscle
19	chr6:5172200-5174000	Enhancers	Primary T cells from cord blood	blood
20	chr6:5172200-5174400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:5172200-5176200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:5172400-5172600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:5172400-5172600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:5172400-5173000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr6:5172400-5173000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:5172400-5173000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:5172400-5173000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:5172400-5173000	Flanking Active TSS	NHEK	skin
29	chr6:5172400-5175800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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