Variant report

Variant	rs73288790
Chromosome Location	chr10:44848979-44848980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44847947..44849950-chr10:44851520..44853387,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1318409	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17156166	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948874	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4948875	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59436757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs731336	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73288735	0.91[EUR][1000 genomes]
rs73288739	0.91[EUR][1000 genomes]
rs73288742	0.91[EUR][1000 genomes]
rs73288752	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73288778	0.91[EUR][1000 genomes]
rs73288782	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73288787	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73288791	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7897798	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1052337	chr10:44821390-44865015	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1054649	chr10:44848921-44889713	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44838600-44867400	Weak transcription	Spleen	Spleen
2	chr10:44846600-44850800	Enhancers	Fetal Lung	lung
3	chr10:44847000-44852000	Enhancers	Pancreas	Pancrea
4	chr10:44847200-44849000	Enhancers	Fetal Stomach	stomach
5	chr10:44847200-44849400	Enhancers	Right Ventricle	heart
6	chr10:44847800-44849200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:44848000-44851800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:44848000-44851800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr10:44848200-44851400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:44848200-44852200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:44848200-44853600	Weak transcription	Brain Substantia Nigra	brain
12	chr10:44848200-44858600	Weak transcription	Psoas Muscle	Psoas
13	chr10:44848200-44864600	Weak transcription	Fetal Kidney	kidney
14	chr10:44848200-44865000	Weak transcription	Osteobl	bone
15	chr10:44848400-44851800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:44848400-44851800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:44848400-44865000	Weak transcription	Right Atrium	heart
18	chr10:44848400-44867400	Weak transcription	Adipose Nuclei	Adipose
19	chr10:44848400-44867600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr10:44848600-44849000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr10:44848600-44849200	Weak transcription	Left Ventricle	heart
22	chr10:44848600-44853800	Weak transcription	Ovary	ovary
23	chr10:44848800-44851600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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