Variant report

Variant	rs2243069
Chromosome Location	chr5:76130337-76130338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2242987	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2242994	1.00[AMR][1000 genomes]
rs2242996	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243011	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243013	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243038	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243061	1.00[AMR][1000 genomes]
rs2243062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7714226	0.84[AFR][1000 genomes];1.00[AMR][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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2763908	chr5:76083394-76134777	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1025151	chr5:76086795-76134777	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv994503	chr5:76129230-76144182	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76116000-76131600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:76116400-76131600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr5:76116800-76134200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:76117400-76130800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:76117400-76134200	Weak transcription	Stomach Mucosa	stomach
6	chr5:76117400-76135200	Weak transcription	Colonic Mucosa	Colon
7	chr5:76118800-76134600	Weak transcription	HepG2	liver
8	chr5:76123000-76132400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:76123600-76132400	Strong transcription	Fetal Intestine Small	intestine
10	chr5:76126000-76130800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:76126000-76132800	Weak transcription	Aorta	Aorta
12	chr5:76127000-76131800	Strong transcription	Fetal Intestine Large	intestine
13	chr5:76127000-76134600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:76127200-76131800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:76127200-76134600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:76127400-76134200	Weak transcription	Osteobl	bone
17	chr5:76127600-76132800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:76127800-76134400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:76128000-76132800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:76128000-76134600	Weak transcription	Small Intestine	intestine
21	chr5:76128200-76130400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:76128200-76130600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr5:76128200-76130600	Strong transcription	NHEK	skin
24	chr5:76128200-76133400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:76128400-76130400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:76128400-76130400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:76128400-76130800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr5:76128400-76132000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:76128400-76132400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:76128400-76133000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:76128600-76130400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:76128600-76130400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:76128600-76130400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr5:76128600-76130400	Strong transcription	Gastric	stomach
35	chr5:76128600-76130600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr5:76128600-76131000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr5:76128600-76131800	Weak transcription	Fetal Stomach	stomach
38	chr5:76128600-76133000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:76128800-76130400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:76129000-76132000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:76129200-76131200	Weak transcription	Lung	lung
42	chr5:76129200-76132800	Weak transcription	Brain Substantia Nigra	brain
43	chr5:76129200-76134800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr5:76129400-76130600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:76129400-76131000	Weak transcription	Liver	Liver
46	chr5:76129400-76132400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:76129400-76134800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:76129600-76131600	Weak transcription	Brain Anterior Caudate	brain
49	chr5:76129600-76131800	Weak transcription	Primary T cells from cord blood	blood
50	chr5:76129600-76131800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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