Variant report

Variant	rs2399372
Chromosome Location	chr3:110792906-110792907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1477836	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1477849	1.00[AMR][1000 genomes]
rs57955193	0.87[AMR][1000 genomes]
rs59251988	0.87[AMR][1000 genomes]
rs59529850	0.87[AMR][1000 genomes]
rs6437946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6784517	0.87[AMR][1000 genomes]
rs6797524	0.87[AMR][1000 genomes]
rs7632518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9850093	0.80[AFR][1000 genomes];1.00[AMR][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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110788400-110793000	Active TSS	Brain Angular Gyrus	brain
2	chr3:110788600-110794200	Active TSS	Ovary	ovary
3	chr3:110788600-110794600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr3:110788800-110793200	Active TSS	Fetal Kidney	kidney
5	chr3:110788800-110794000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr3:110789000-110793000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr3:110789000-110793000	Active TSS	Placenta Amnion	Placenta Amnion
8	chr3:110789000-110793200	Active TSS	Fetal Stomach	stomach
9	chr3:110789000-110793200	Active TSS	Stomach Smooth Muscle	stomach
10	chr3:110789000-110793400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr3:110789000-110793600	Active TSS	NHDF-Ad	bronchial
12	chr3:110789000-110793800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr3:110789000-110794200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:110789200-110793000	Active TSS	HSMM	muscle
15	chr3:110789200-110793200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:110789200-110793400	Active TSS	Fetal Intestine Large	intestine
17	chr3:110789200-110793600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr3:110789200-110794200	Active TSS	NHLF	lung
19	chr3:110789200-110794800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:110789400-110793000	Active TSS	HSMMtube	muscle
21	chr3:110789400-110794000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:110789600-110793000	Active TSS	Colonic Mucosa	Colon
23	chr3:110789600-110794800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:110791600-110793000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:110791600-110793000	Active TSS	Fetal Muscle Leg	muscle
26	chr3:110791800-110793000	Flanking Active TSS	Osteobl	bone
27	chr3:110791800-110793200	Active TSS	Fetal Intestine Small	intestine
28	chr3:110791800-110793400	Active TSS	Placenta	Placenta
29	chr3:110791800-110794200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr3:110792000-110793000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:110792000-110793000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
32	chr3:110792000-110793000	Flanking Active TSS	Liver	Liver
33	chr3:110792000-110793400	Flanking Active TSS	HUVEC	blood vessel
34	chr3:110792200-110793000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:110792200-110793000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:110792200-110793200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:110792200-110793400	Flanking Active TSS	HepG2	liver
38	chr3:110792200-110794200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:110792200-110794400	Active TSS	Duodenum Mucosa	Duodenum
40	chr3:110792200-110794800	Flanking Active TSS	Dnd41	blood
41	chr3:110792400-110793000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:110792400-110793000	Enhancers	Adipose Nuclei	Adipose
43	chr3:110792400-110793000	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr3:110792400-110793000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr3:110792400-110793200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:110792400-110793200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr3:110792400-110793200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr3:110792400-110793400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:110792400-110794000	Enhancers	Brain Hippocampus Middle	brain
50	chr3:110792400-110795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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