Variant report

Variant	rs2297050
Chromosome Location	chr20:13740283-13740284
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2274674	0.89[YRI][hapmap]
rs3747929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4813138	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs6033810	0.88[YRI][hapmap]
rs6033824	0.88[YRI][hapmap]
rs6033827	0.89[YRI][hapmap]
rs6042317	0.87[YRI][hapmap]
rs6042327	0.89[YRI][hapmap]
rs6042331	0.88[YRI][hapmap]
rs6042333	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs6042345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6042348	0.88[YRI][hapmap]
rs6042356	0.89[YRI][hapmap]
rs6042366	0.89[YRI][hapmap]
rs6131516	0.86[YRI][hapmap]
rs6134966	0.82[AMR][1000 genomes]
rs926976	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1061323	chr20:13551004-13746346	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13692200-13745000	Weak transcription	Small Intestine	intestine
2	chr20:13693000-13746400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr20:13694400-13748000	Weak transcription	Gastric	stomach
4	chr20:13694600-13764400	Weak transcription	Stomach Mucosa	stomach
5	chr20:13697200-13745000	Weak transcription	Colonic Mucosa	Colon
6	chr20:13697600-13745800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:13712800-13745000	Weak transcription	Pancreas	Pancrea
8	chr20:13713000-13746200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr20:13713000-13747400	Weak transcription	Right Ventricle	heart
10	chr20:13713000-13748600	Weak transcription	Spleen	Spleen
11	chr20:13714000-13745400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:13714400-13744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr20:13718400-13744400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr20:13721800-13744200	Weak transcription	Brain Hippocampus Middle	brain
15	chr20:13722000-13745000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr20:13722000-13748400	Weak transcription	Aorta	Aorta
17	chr20:13722200-13742200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr20:13722200-13744800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr20:13722200-13745000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr20:13722200-13745400	Weak transcription	Brain Substantia Nigra	brain
21	chr20:13722200-13747800	Weak transcription	Lung	lung
22	chr20:13722200-13748400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr20:13722600-13742200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr20:13722800-13744600	Weak transcription	Fetal Brain Male	brain
25	chr20:13722800-13745000	Weak transcription	Thymus	Thymus
26	chr20:13722800-13745400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr20:13722800-13745600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr20:13723200-13744200	Weak transcription	K562	blood
29	chr20:13723200-13745000	Weak transcription	Fetal Muscle Leg	muscle
30	chr20:13725800-13742600	Weak transcription	Hela-S3	cervix
31	chr20:13727200-13740800	Strong transcription	HepG2	liver
32	chr20:13728400-13740600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:13728400-13740800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr20:13728400-13746600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr20:13729800-13741000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr20:13730200-13748600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr20:13730600-13740800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr20:13730600-13741000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr20:13731400-13740600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr20:13731400-13741000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr20:13731400-13747800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr20:13731600-13741200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr20:13731600-13745000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr20:13731600-13745200	Weak transcription	Fetal Stomach	stomach
45	chr20:13731600-13747800	Weak transcription	Fetal Intestine Small	intestine
46	chr20:13731600-13748400	Weak transcription	Esophagus	oesophagus
47	chr20:13733600-13741000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr20:13734000-13740600	Strong transcription	HUVEC	blood vessel
49	chr20:13734000-13740800	Strong transcription	Liver	Liver
50	chr20:13734000-13763200	Strong transcription	Primary monocytes fromperipheralblood	blood

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