Variant report

Variant	rs2228653
Chromosome Location	chr14:21162086-21162087
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17092013	1.00[EUR][1000 genomes]
rs17113273	1.00[EUR][1000 genomes]
rs55747318	1.00[EUR][1000 genomes]
rs55795834	1.00[EUR][1000 genomes]
rs55917840	1.00[EUR][1000 genomes]
rs58964539	1.00[EUR][1000 genomes]
rs59800190	1.00[EUR][1000 genomes]
rs7140706	1.00[AMR][1000 genomes]
rs7143903	1.00[EUR][1000 genomes]
rs7160116	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73571302	1.00[EUR][1000 genomes]
rs74034308	1.00[EUR][1000 genomes]
rs74034309	1.00[EUR][1000 genomes]
rs8003273	1.00[EUR][1000 genomes]
rs8022642	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1203	chr14:21120868-21166077	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1045004	chr14:21124345-21180397	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv541975	chr14:21124345-21180397	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21153600-21169000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:21153600-21169600	Weak transcription	Esophagus	oesophagus
3	chr14:21153600-21169800	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:21153800-21165800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:21153800-21165800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:21154400-21167200	Weak transcription	Aorta	Aorta
7	chr14:21154400-21168800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:21154600-21167600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:21155000-21165200	Weak transcription	HUVEC	blood vessel
10	chr14:21155600-21165600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:21155800-21167600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:21156200-21167200	Weak transcription	Gastric	stomach
13	chr14:21156200-21167400	Weak transcription	Colonic Mucosa	Colon
14	chr14:21157400-21167200	Weak transcription	Pancreas	Pancrea
15	chr14:21157600-21169800	Weak transcription	Fetal Intestine Large	intestine
16	chr14:21159200-21165600	Weak transcription	Brain Angular Gyrus	brain
17	chr14:21159200-21171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:21159400-21162200	Genic enhancers	HepG2	liver
19	chr14:21159400-21163800	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:21159400-21165200	Weak transcription	K562	blood
21	chr14:21159800-21165400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:21159800-21169600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:21160600-21168400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:21160800-21162200	Strong transcription	Stomach Mucosa	stomach
25	chr14:21161400-21162200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr14:21161400-21162600	Strong transcription	Adipose Nuclei	Adipose
27	chr14:21161400-21162600	Strong transcription	Liver	Liver
28	chr14:21161400-21163400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:21161400-21164800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:21161600-21162200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:21161600-21162200	Strong transcription	Left Ventricle	heart
32	chr14:21161600-21162200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:21161600-21162400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr14:21161600-21162400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:21161600-21162800	Strong transcription	Fetal Intestine Small	intestine
36	chr14:21161600-21162800	Strong transcription	Ovary	ovary
37	chr14:21161600-21163200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr14:21161600-21164000	Strong transcription	Fetal Stomach	stomach
39	chr14:21161800-21162400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:21161800-21162400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:21161800-21162400	Strong transcription	Fetal Lung	lung
42	chr14:21161800-21162400	Strong transcription	Lung	lung
43	chr14:21161800-21162600	Strong transcription	Rectal Mucosa Donor 29	rectum

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