Variant report

Variant	rs9968124
Chromosome Location	chr3:111452584-111452585
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111452077..111454237-chr3:111460686..111462940,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10934102	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10934103	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13071304	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13085147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13090883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17423699	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17424287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34307743	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34444935	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35320181	0.87[AMR][1000 genomes]
rs3922703	0.90[EUR][1000 genomes]
rs3922705	0.90[EUR][1000 genomes]
rs4234403	0.92[EUR][1000 genomes]
rs4234405	0.90[EUR][1000 genomes]
rs4308247	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4349472	0.90[EUR][1000 genomes]
rs4373040	0.94[EUR][1000 genomes]
rs4405880	0.92[EUR][1000 genomes]
rs4416359	0.90[EUR][1000 genomes]
rs4429600	0.83[EUR][1000 genomes]
rs4438630	0.92[EUR][1000 genomes]
rs4546124	0.90[EUR][1000 genomes]
rs4642091	0.92[EUR][1000 genomes]
rs4645114	0.90[EUR][1000 genomes]
rs4682058	0.92[EUR][1000 genomes]
rs4682059	0.92[EUR][1000 genomes]
rs4682060	0.92[EUR][1000 genomes]
rs4682061	0.92[EUR][1000 genomes]
rs4682304	0.92[EUR][1000 genomes]
rs4682306	0.92[EUR][1000 genomes]
rs4682307	0.92[EUR][1000 genomes]
rs4682308	0.92[EUR][1000 genomes]
rs4682309	0.83[EUR][1000 genomes]
rs4682311	0.90[EUR][1000 genomes]
rs4682315	0.90[EUR][1000 genomes]
rs6438005	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66499316	0.90[EUR][1000 genomes]
rs6762439	0.94[EUR][1000 genomes]
rs6763624	0.88[EUR][1000 genomes]
rs6768626	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6777990	0.90[EUR][1000 genomes]
rs6780845	0.92[EUR][1000 genomes]
rs6786443	0.90[EUR][1000 genomes]
rs6804906	0.92[EUR][1000 genomes]
rs6807045	0.92[EUR][1000 genomes]
rs68097220	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7632963	0.92[EUR][1000 genomes]
rs7633037	0.94[EUR][1000 genomes]
rs7637178	0.92[EUR][1000 genomes]
rs7640556	0.94[EUR][1000 genomes]
rs7641533	0.92[EUR][1000 genomes]
rs9288929	0.92[EUR][1000 genomes]
rs9631450	0.92[EUR][1000 genomes]
rs9850851	0.92[EUR][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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591290	chr3:111427455-111462570	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111415200-111454200	Weak transcription	Small Intestine	intestine
2	chr3:111427600-111456000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:111441600-111452800	Weak transcription	Placenta	Placenta
4	chr3:111442000-111454200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:111442400-111456000	Weak transcription	Lung	lung
6	chr3:111442800-111455800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:111443200-111454800	Weak transcription	Primary T cells from cord blood	blood
8	chr3:111444200-111456000	Weak transcription	Aorta	Aorta
9	chr3:111445200-111456800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:111448800-111453600	Weak transcription	Right Atrium	heart
11	chr3:111448800-111454200	Weak transcription	Adipose Nuclei	Adipose
12	chr3:111449000-111453400	Weak transcription	Fetal Heart	heart
13	chr3:111449000-111453600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:111449000-111453600	Weak transcription	HUVEC	blood vessel
15	chr3:111449000-111454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr3:111449000-111455800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:111449200-111453600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:111449200-111453600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:111449400-111453400	Weak transcription	HSMMtube	muscle
20	chr3:111449400-111456000	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:111449600-111452600	Weak transcription	HSMM	muscle
22	chr3:111449600-111452800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:111449600-111452800	Weak transcription	Hela-S3	cervix
24	chr3:111449600-111452800	Weak transcription	Osteobl	bone
25	chr3:111449600-111453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:111449600-111453400	Weak transcription	NH-A	brain
27	chr3:111449600-111453600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:111449600-111453800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:111449600-111453800	Weak transcription	NHLF	lung
30	chr3:111449600-111456000	Weak transcription	Esophagus	oesophagus
31	chr3:111449800-111453600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:111449800-111453600	Weak transcription	NHDF-Ad	bronchial
33	chr3:111450200-111452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:111451000-111453000	Active TSS	Fetal Kidney	kidney
35	chr3:111451200-111452600	Active TSS	Fetal Stomach	stomach
36	chr3:111451200-111452600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr3:111451200-111453400	Active TSS	Liver	Liver
38	chr3:111451200-111453600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:111451200-111454400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr3:111451400-111452600	Active TSS	HepG2	liver
41	chr3:111451600-111452600	Enhancers	NHEK	skin
42	chr3:111451600-111453000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr3:111451600-111453600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:111451600-111460400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:111452200-111453000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:111452200-111454200	Flanking Active TSS	A549	lung
47	chr3:111452200-111458200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:111452400-111452600	Active TSS	Fetal Intestine Small	intestine
49	chr3:111452400-111453000	Weak transcription	Pancreas	Pancrea
50	chr3:111452400-111454000	Weak transcription	Duodenum Mucosa	Duodenum

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