Variant report

Variant	rs3116598
Chromosome Location	chr13:51099616-51099617
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	chr13:51094293..51096680-chr13:51098337..51100643,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1327653	0.81[EUR][1000 genomes]
rs157164	0.82[EUR][1000 genomes]
rs157165	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1630605	0.82[EUR][1000 genomes]
rs1638703	0.82[EUR][1000 genomes]
rs1752106	0.80[EUR][1000 genomes]
rs1753633	0.82[EUR][1000 genomes]
rs1753639	0.82[EUR][1000 genomes]
rs183950	0.82[EUR][1000 genomes]
rs201751	0.93[ASN][1000 genomes]
rs201754	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs201757	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs201762	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs202346	0.82[EUR][1000 genomes]
rs2225226	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2408045	0.80[EUR][1000 genomes]
rs3116599	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3116600	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3116601	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3116602	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3116603	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3116604	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3116605	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3116606	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3116613	0.80[EUR][1000 genomes]
rs3116615	0.80[EUR][1000 genomes]
rs3116617	0.80[EUR][1000 genomes]
rs3118903	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3118909	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3118910	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3118912	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3118913	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3118914	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3118915	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3118918	0.80[EUR][1000 genomes]
rs3118920	0.80[EUR][1000 genomes]
rs495838	0.82[EUR][1000 genomes]
rs616268	0.81[EUR][1000 genomes]
rs7337757	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs975319	0.80[EUR][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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51087800-51102000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:51088200-51100800	Weak transcription	Primary B cells from cord blood	blood
3	chr13:51093400-51100000	Weak transcription	Lung	lung
4	chr13:51093400-51100600	Weak transcription	Brain Germinal Matrix	brain
5	chr13:51093400-51101400	Weak transcription	Left Ventricle	heart
6	chr13:51093400-51101600	Weak transcription	Right Atrium	heart
7	chr13:51093400-51102000	Weak transcription	HSMMtube	muscle
8	chr13:51093600-51101600	Weak transcription	HSMM	muscle
9	chr13:51093800-51100800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr13:51093800-51101600	Weak transcription	Brain Angular Gyrus	brain
11	chr13:51094800-51101000	Weak transcription	Pancreas	Pancrea
12	chr13:51095000-51101600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:51095600-51100600	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:51095800-51102000	Weak transcription	Right Ventricle	heart
15	chr13:51096000-51100800	Weak transcription	Brain Substantia Nigra	brain
16	chr13:51096000-51100800	Weak transcription	NHLF	lung
17	chr13:51096000-51101800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:51096000-51103200	Weak transcription	Ovary	ovary
19	chr13:51096200-51101400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:51096200-51102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:51096400-51099800	Weak transcription	Fetal Thymus	thymus
22	chr13:51096400-51100200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:51096400-51100600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:51096400-51101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:51096400-51101000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:51096600-51099800	Weak transcription	Thymus	Thymus
27	chr13:51096600-51100600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr13:51096600-51100800	Weak transcription	Brain Anterior Caudate	brain
29	chr13:51096600-51100800	Weak transcription	Placenta	Placenta
30	chr13:51096600-51100800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr13:51096600-51101000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:51096600-51103400	Weak transcription	Small Intestine	intestine
33	chr13:51096800-51100400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr13:51096800-51100600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr13:51097200-51100800	Weak transcription	Psoas Muscle	Psoas
36	chr13:51097200-51102800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr13:51097600-51100800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr13:51097600-51100800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:51097600-51103400	Weak transcription	Fetal Intestine Small	intestine
40	chr13:51097800-51099800	Weak transcription	Fetal Muscle Leg	muscle
41	chr13:51097800-51100400	Weak transcription	Fetal Stomach	stomach
42	chr13:51097800-51100600	Weak transcription	Colon Smooth Muscle	Colon
43	chr13:51097800-51101400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr13:51097800-51101600	Weak transcription	Fetal Kidney	kidney
45	chr13:51098000-51100000	Weak transcription	Fetal Heart	heart
46	chr13:51098000-51100200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr13:51098000-51100400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:51098000-51101000	Weak transcription	Adipose Nuclei	Adipose
49	chr13:51098200-51101000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:51098400-51100600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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