Variant report

Variant	rs34901599
Chromosome Location	chr20:13797179-13797180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2094652	1.00[AMR][1000 genomes]
rs2327796	1.00[AMR][1000 genomes]
rs2423753	0.84[AFR][1000 genomes]
rs2423754	1.00[AMR][1000 genomes]
rs4239710	1.00[AMR][1000 genomes]
rs4814255	1.00[AMR][1000 genomes]
rs4814257	1.00[AMR][1000 genomes]
rs6033822	1.00[AMR][1000 genomes]
rs6042326	1.00[AMR][1000 genomes]
rs6042334	1.00[AMR][1000 genomes]
rs6042344	1.00[AMR][1000 genomes]
rs6074639	1.00[AMR][1000 genomes]
rs6079175	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
6	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
7	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
8	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13767600-13799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:13767800-13799400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr20:13767800-13800600	Weak transcription	Stomach Mucosa	stomach
4	chr20:13768000-13799800	Strong transcription	Fetal Thymus	thymus
5	chr20:13768200-13799800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr20:13768200-13799800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr20:13768400-13799600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr20:13768600-13799600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr20:13768800-13799600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr20:13769000-13799600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr20:13769200-13799600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr20:13769400-13799400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr20:13769400-13802000	Strong transcription	A549	lung
14	chr20:13769600-13799400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:13770200-13799600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr20:13770600-13799400	Strong transcription	Primary T cells from cord blood	blood
17	chr20:13773600-13799400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:13779200-13799600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr20:13780800-13800800	Strong transcription	Placenta	Placenta
20	chr20:13781600-13800000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr20:13781800-13798200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr20:13781800-13799000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr20:13781800-13799400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr20:13781800-13799400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr20:13782000-13799400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr20:13782200-13799600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr20:13783000-13799400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr20:13783600-13802000	Strong transcription	Dnd41	blood
29	chr20:13784400-13799600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr20:13785400-13799400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr20:13785400-13799600	Strong transcription	Left Ventricle	heart
32	chr20:13786200-13797400	Strong transcription	Fetal Stomach	stomach
33	chr20:13786200-13799600	Strong transcription	Thymus	Thymus
34	chr20:13786800-13797200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr20:13786800-13799400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr20:13786800-13799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr20:13787400-13799400	Strong transcription	Lung	lung
38	chr20:13787400-13799600	Strong transcription	GM12878-XiMat	blood
39	chr20:13787600-13798600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr20:13787600-13799800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr20:13787800-13799000	Strong transcription	HSMM	muscle
42	chr20:13787800-13799600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr20:13788000-13799400	Strong transcription	HSMMtube	muscle
44	chr20:13788400-13801000	Strong transcription	Fetal Muscle Leg	muscle
45	chr20:13788600-13797400	Strong transcription	NH-A	brain
46	chr20:13788600-13797800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr20:13788600-13798400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr20:13788600-13798600	Strong transcription	Fetal Brain Female	brain
49	chr20:13788600-13799000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr20:13788600-13799000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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