Variant report

Variant	rs73618829
Chromosome Location	chr13:110667601-110667602
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110651700..110653449-chr13:110664832..110667633,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12429959	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34633471	0.93[EUR][1000 genomes]
rs35453261	0.93[EUR][1000 genomes]
rs35579024	0.93[EUR][1000 genomes]
rs35699444	0.93[EUR][1000 genomes]
rs35757068	0.93[EUR][1000 genomes]
rs35850183	0.93[EUR][1000 genomes]
rs7985816	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986081	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7986294	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7996135	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7996452	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7996685	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996778	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7997724	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7997910	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001511	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001673	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001815	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002170	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049593	chr13:110615494-110725945	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1842097	chr13:110644990-110680944	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv901004	chr13:110653666-110682916	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv11075	chr13:110663770-110667708	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110659200-110669800	Weak transcription	Pancreas	Pancrea
2	chr13:110661200-110669400	Enhancers	HSMM	muscle
3	chr13:110662600-110668600	Enhancers	HSMMtube	muscle
4	chr13:110662800-110671000	Enhancers	NHEK	skin
5	chr13:110663400-110670600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr13:110664800-110668600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:110665400-110669800	Weak transcription	HUVEC	blood vessel
8	chr13:110665600-110668000	Weak transcription	NHDF-Ad	bronchial
9	chr13:110665600-110669200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:110665600-110669400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:110665600-110669600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:110665800-110668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:110665800-110669400	Weak transcription	NH-A	brain
14	chr13:110665800-110669600	Weak transcription	Hela-S3	cervix
15	chr13:110666200-110668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:110666400-110670600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:110666600-110671000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:110666800-110667800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr13:110666800-110668200	Enhancers	Fetal Heart	heart
20	chr13:110666800-110668200	Flanking Active TSS	A549	lung
21	chr13:110666800-110668800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:110666800-110669600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:110666800-110670000	Enhancers	HMEC	breast
24	chr13:110666800-110670800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:110666800-110671000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:110667000-110668200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr13:110667000-110668400	Enhancers	Stomach Smooth Muscle	stomach
28	chr13:110667200-110667800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:110667200-110667800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr13:110667200-110668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:110667200-110671000	Enhancers	NHLF	lung
32	chr13:110667400-110668000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr13:110667400-110668200	Enhancers	Liver	Liver
34	chr13:110667400-110669800	Weak transcription	Left Ventricle	heart
35	chr13:110667600-110667800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr13:110667600-110668400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:110667600-110668400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:110667600-110669600	Enhancers	Osteobl	bone

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