Variant report

Variant	rs4682054
Chromosome Location	chr3:111419001-111419002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2137595	0.82[ASW][hapmap];0.86[JPT][hapmap];0.82[MKK][hapmap]
rs4413291	0.86[JPT][hapmap];0.85[MKK][hapmap]
rs4682298	0.82[ASW][hapmap]
rs9877859	0.82[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111406200-111426800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:111410200-111426800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr3:111410200-111428400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:111410200-111433200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:111410600-111443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:111412200-111426800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:111412400-111426800	Weak transcription	Primary T cells from cord blood	blood
8	chr3:111412400-111426800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:111412800-111430800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:111413000-111427000	Weak transcription	Primary B cells from cord blood	blood
11	chr3:111413600-111426800	Weak transcription	Fetal Intestine Small	intestine
12	chr3:111413600-111426800	Weak transcription	Fetal Thymus	thymus
13	chr3:111413800-111420000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:111413800-111422000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:111413800-111427200	Weak transcription	Fetal Intestine Large	intestine
16	chr3:111414400-111426800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr3:111414800-111420600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:111415200-111420600	Weak transcription	A549	lung
19	chr3:111415200-111423000	Weak transcription	HUVEC	blood vessel
20	chr3:111415200-111454200	Weak transcription	Small Intestine	intestine
21	chr3:111415400-111422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:111415600-111430800	Weak transcription	Osteobl	bone
23	chr3:111415600-111431000	Weak transcription	HMEC	breast
24	chr3:111415600-111436000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:111415600-111436400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:111416200-111426800	Weak transcription	NHEK	skin
27	chr3:111416200-111431200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:111417200-111419200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:111417800-111419400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr3:111418200-111419400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:111418200-111442000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:111418400-111419200	Enhancers	Primary B cells from peripheral blood	blood
33	chr3:111418600-111419400	Flanking Active TSS	GM12878-XiMat	blood
34	chr3:111418600-111427000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr3:111418800-111419600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:111418800-111426800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:111419000-111419400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:111419000-111420200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:111419000-111420400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:111419000-111427000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:111419000-111436000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:111419000-111436200	Weak transcription	Stomach Mucosa	stomach

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