Variant report

Variant	rs7991413
Chromosome Location	chr13:96681182-96681183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1015068	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070157	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1114308	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11619490	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11843772	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12583522	0.80[ASN][1000 genomes]
rs12585387	0.83[ASN][1000 genomes]
rs12860877	0.89[ASN][1000 genomes]
rs17189951	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1813179	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1854173	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1872161	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2026819	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2062276	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2129004	0.80[ASN][1000 genomes]
rs2129005	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2170812	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2277419	0.86[ASN][1000 genomes]
rs2389571	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28649586	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34816227	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35685996	0.89[ASN][1000 genomes]
rs35898412	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3759441	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3759442	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3782989	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3782990	0.90[ASN][1000 genomes]
rs3825424	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4771923	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4773933	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4773934	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4773935	0.85[ASN][1000 genomes]
rs61973963	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6492828	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6492829	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7317285	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7320351	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7328164	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7331461	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7332683	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7334100	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7334508	0.89[ASN][1000 genomes]
rs7335872	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7336088	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7336483	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7338224	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs764714	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7983589	0.91[ASN][1000 genomes]
rs7983843	0.88[ASN][1000 genomes]
rs7990833	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7991250	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7992875	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7998353	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9556516	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9556517	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9556518	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9556520	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9556521	0.89[ASN][1000 genomes]
rs9556523	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9562005	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9562006	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9562007	0.87[AMR][1000 genomes]
rs9562008	0.80[AMR][1000 genomes]
rs9562012	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562014	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9562015	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9562016	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9562017	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9562018	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9562019	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9634487	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9670470	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv869471	chr13:96622327-97223956	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96613200-96694200	Weak transcription	A549	lung
2	chr13:96660200-96682200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr13:96660800-96684800	Weak transcription	Psoas Muscle	Psoas
4	chr13:96663200-96685400	Weak transcription	HMEC	breast
5	chr13:96664200-96684800	Weak transcription	NHLF	lung
6	chr13:96668600-96704400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:96668800-96685400	Weak transcription	Gastric	stomach
8	chr13:96669000-96683200	Weak transcription	Esophagus	oesophagus
9	chr13:96669000-96685800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:96669000-96686200	Weak transcription	NHEK	skin
11	chr13:96669200-96686800	Weak transcription	Right Ventricle	heart
12	chr13:96669200-96694000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:96669400-96685400	Weak transcription	Fetal Kidney	kidney
14	chr13:96669400-96685600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:96669400-96685600	Weak transcription	Fetal Brain Female	brain
16	chr13:96669400-96694000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:96669400-96704600	Weak transcription	Brain Anterior Caudate	brain
18	chr13:96669600-96686400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:96669600-96686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:96669600-96687000	Weak transcription	Adipose Nuclei	Adipose
21	chr13:96669800-96685600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:96669800-96686200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:96669800-96686400	Weak transcription	Fetal Lung	lung
24	chr13:96670400-96685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:96672400-96685600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:96672800-96684000	Weak transcription	K562	blood
27	chr13:96673000-96685000	Weak transcription	GM12878-XiMat	blood
28	chr13:96673000-96685600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr13:96673000-96698400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:96673200-96684600	Weak transcription	Hela-S3	cervix
31	chr13:96673200-96686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:96673200-96686400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:96673200-96692800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr13:96673200-96693400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:96673400-96686000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr13:96673400-96686000	Weak transcription	Fetal Muscle Leg	muscle
37	chr13:96673400-96686400	Weak transcription	Liver	Liver
38	chr13:96673400-96693000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr13:96673600-96681800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr13:96673600-96685400	Weak transcription	Pancreas	Pancrea
41	chr13:96673600-96685600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:96673600-96685600	Weak transcription	Fetal Intestine Small	intestine
43	chr13:96673600-96686200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:96673600-96686800	Weak transcription	Left Ventricle	heart
45	chr13:96674200-96685800	Weak transcription	Fetal Intestine Large	intestine
46	chr13:96675400-96681600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr13:96676800-96683600	Weak transcription	Small Intestine	intestine
48	chr13:96677400-96683000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:96677400-96685600	Weak transcription	Fetal Stomach	stomach
50	chr13:96677400-96685600	Weak transcription	Lung	lung

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