Variant report

Variant	rs73684030
Chromosome Location	chr7:27749609-27749610
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27747436..27749954-chr7:27752214..27754351,3	K562	blood:
2	chr7:27748144..27751771-chr7:27755375..27758191,3	K562	blood:
3	chr7:27747506..27749954-chr7:27752851..27754917,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2299105	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55901354	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56916239	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56995723	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58546705	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58651394	0.86[ASN][1000 genomes]
rs58947798	0.85[AMR][1000 genomes]
rs59041966	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59614135	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60636413	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73684028	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73684035	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73684037	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73684045	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73684048	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73684050	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73684052	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73684053	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73684055	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73684057	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73684058	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27748600-27750000	Enhancers	Hela-S3	cervix
2	chr7:27748600-27750000	Enhancers	Osteobl	bone
3	chr7:27748600-27750200	Enhancers	NHDF-Ad	bronchial
4	chr7:27748800-27749800	Enhancers	Ovary	ovary
5	chr7:27748800-27749800	Enhancers	NHLF	lung
6	chr7:27748800-27750000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:27748800-27750000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:27748800-27750000	Enhancers	Colon Smooth Muscle	Colon
9	chr7:27748800-27750000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:27748800-27750000	Enhancers	NH-A	brain
11	chr7:27749000-27749800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:27749000-27749800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr7:27749000-27749800	Enhancers	Stomach Smooth Muscle	stomach
14	chr7:27749000-27749800	Enhancers	HSMMtube	muscle
15	chr7:27749000-27750000	Enhancers	HSMM	muscle
16	chr7:27749000-27750000	Enhancers	HUVEC	blood vessel
17	chr7:27749000-27750200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:27749000-27750200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:27749000-27750200	Enhancers	K562	blood
20	chr7:27749400-27749800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:27749400-27749800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:27749400-27750000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:27749400-27750000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:27749400-27750200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:27749400-27755000	Weak transcription	Small Intestine	intestine
26	chr7:27749600-27754400	Weak transcription	HMEC	breast

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