Variant report

Variant	rs1530353
Chromosome Location	chr17:63120781-63120782
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:63117748..63120899-chr17:63122110..63128969,9	MCF-7	breast:
2	chr17:62969930..62974223-chr17:63117213..63122121,8	MCF-7	breast:
3	chr17:63120023..63122659-chr17:63155151..63157208,2	MCF-7	breast:
4	chr17:63000197..63002016-chr17:63118020..63120951,2	MCF-7	breast:
5	chr17:63119041..63121818-chr17:63180202..63183514,3	MCF-7	breast:
6	chr17:63117665..63121583-chr17:63131912..63139197,8	K562	blood:
7	chr17:63118227..63121662-chr17:63122983..63126434,3	K562	blood:
8	chr17:63063950..63066539-chr17:63119557..63121268,2	MCF-7	breast:
9	chr17:63118160..63120785-chr17:63189536..63191334,2	MCF-7	breast:
10	chr17:62981235..62983059-chr17:63118684..63121178,2	MCF-7	breast:
11	chr17:63095279..63098151-chr17:63117643..63122061,8	MCF-7	breast:
12	chr17:63050818..63055787-chr17:63117380..63122567,9	MCF-7	breast:
13	chr17:63106164..63108847-chr17:63116672..63121069,3	MCF-7	breast:
14	chr17:63094877..63096816-chr17:63119599..63121828,2	K562	blood:
15	chr17:62914231..62916135-chr17:63119680..63121849,2	MCF-7	breast:
16	chr17:63118932..63120932-chr17:63131317..63133412,3	K562	blood:
17	chr17:63117889..63120887-chr17:63144486..63147111,3	MCF-7	breast:
18	chr17:62968870..62973238-chr17:63117876..63121265,6	MCF-7	breast:
19	chr17:63073557..63076220-chr17:63118767..63121189,2	MCF-7	breast:
20	chr17:63099337..63101171-chr17:63120378..63121953,2	MCF-7	breast:
21	chr17:63118090..63122363-chr17:63130116..63137221,12	MCF-7	breast:
22	chr17:63118923..63121518-chr17:63126607..63128778,3	K562	blood:
23	chr17:63117696..63121583-chr17:63133620..63139197,5	K562	blood:
24	chr17:63046304..63055748-chr17:63116888..63122496,16	MCF-7	breast:
25	chr17:62969852..62972063-chr17:63119171..63120865,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108370	Chromatin interaction
ENSG00000266598	Chromatin interaction
ENSG00000263470	Chromatin interaction
ENSG00000120063	Chromatin interaction
ENSG00000214174	Chromatin interaction
ENSG00000265883	Chromatin interaction
ENSG00000176809	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1010271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079557	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11079558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079559	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12450928	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12451009	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12603197	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1530352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554048	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554049	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561939	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1968574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445249	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs299841	0.82[AFR][1000 genomes]
rs429583	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4581735	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791231	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7207632	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7212241	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7215779	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7219245	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7219799	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7219809	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8073607	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8073924	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8075179	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8080637	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080746	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8081971	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303478	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9898914	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899243	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899401	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899628	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9912432	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913707	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913725	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63118800-63127000	Weak transcription	Spleen	Spleen
2	chr17:63119800-63120800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:63119800-63120800	Enhancers	Fetal Stomach	stomach
4	chr17:63119800-63120800	Enhancers	NHLF	lung
5	chr17:63119800-63121000	Enhancers	NHDF-Ad	bronchial
6	chr17:63119800-63121800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:63119800-63133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:63120000-63120800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:63120000-63120800	Enhancers	Fetal Muscle Leg	muscle
10	chr17:63120000-63120800	Enhancers	HUVEC	blood vessel
11	chr17:63120000-63121000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr17:63120000-63121000	Enhancers	Stomach Mucosa	stomach
13	chr17:63120000-63121600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr17:63120200-63123400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:63120200-63124400	Weak transcription	Aorta	Aorta
16	chr17:63120200-63126400	Weak transcription	K562	blood
17	chr17:63120600-63120800	Enhancers	A549	lung

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