Variant report

Variant	rs4813142
Chromosome Location	chr20:13769885-13769886
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:13769878-13769962	Kidney_OC	kidney:	n/a	n/a
2	POLR2A	chr20:13769747-13769887	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:13769397..13772181-chr20:13776678..13779154,2	K562	blood:
2	chr20:13768422..13770202-chr20:13776698..13778649,2	K562	blood:
3	chr20:13769039..13770895-chr20:13773639..13775418,2	K562	blood:
4	chr20:13769074..13771240-chr20:13798879..13801315,2	K562	blood:

Variant related genes	Relation type
NDUFAF5	TF binding region
ESF1	TF binding region
ENSG00000101247	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13042637	0.85[ASN][1000 genomes]
rs1547920	0.88[ASN][1000 genomes]
rs1999112	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2031933	0.87[ASN][1000 genomes]
rs2209993	0.93[ASN][1000 genomes]
rs2209994	0.93[ASN][1000 genomes]
rs2423745	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2423749	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2423750	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2423753	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3180370	0.86[ASN][1000 genomes]
rs34449907	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34806363	0.86[ASN][1000 genomes]
rs4814258	0.87[ASN][1000 genomes]
rs6033816	0.87[ASN][1000 genomes]
rs6033819	0.93[ASN][1000 genomes]
rs6033821	0.88[ASN][1000 genomes]
rs6042357	0.86[ASN][1000 genomes]
rs6042362	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6074643	0.86[ASN][1000 genomes]
rs6074644	0.86[ASN][1000 genomes]
rs6079165	0.82[ASN][1000 genomes]
rs6079166	0.88[ASN][1000 genomes]
rs6079176	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6079178	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6079181	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6079182	0.86[ASN][1000 genomes]
rs6105162	0.82[ASN][1000 genomes]
rs6110035	0.93[ASN][1000 genomes]
rs62209178	0.82[ASN][1000 genomes]
rs62209207	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68012295	0.88[ASN][1000 genomes]
rs754796	0.87[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13766400-13770000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:13766400-13793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr20:13766400-13796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:13766600-13772200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr20:13766800-13770400	Weak transcription	Lung	lung
6	chr20:13766800-13781400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr20:13767000-13770600	Weak transcription	Colonic Mucosa	Colon
8	chr20:13767200-13770200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr20:13767200-13770800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr20:13767200-13771000	Weak transcription	Primary B cells from cord blood	blood
11	chr20:13767200-13771400	Weak transcription	Fetal Kidney	kidney
12	chr20:13767400-13770000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr20:13767400-13770000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr20:13767400-13770000	Enhancers	Liver	Liver
15	chr20:13767400-13770000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr20:13767400-13770400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr20:13767400-13770400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr20:13767400-13770800	Weak transcription	Ovary	ovary
19	chr20:13767400-13771000	Weak transcription	Aorta	Aorta
20	chr20:13767400-13771400	Weak transcription	Right Ventricle	heart
21	chr20:13767400-13771800	Weak transcription	Pancreas	Pancrea
22	chr20:13767400-13772400	Weak transcription	Esophagus	oesophagus
23	chr20:13767400-13792600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:13767600-13770000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr20:13767600-13770000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr20:13767600-13770000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr20:13767600-13770400	Weak transcription	Brain Hippocampus Middle	brain
28	chr20:13767600-13770400	Weak transcription	Psoas Muscle	Psoas
29	chr20:13767600-13770400	Weak transcription	NHLF	lung
30	chr20:13767600-13770600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr20:13767600-13770600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr20:13767600-13770600	Weak transcription	Brain Germinal Matrix	brain
33	chr20:13767600-13770600	Weak transcription	NHDF-Ad	bronchial
34	chr20:13767600-13770800	Weak transcription	Brain Anterior Caudate	brain
35	chr20:13767600-13771200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr20:13767600-13772400	Weak transcription	Right Atrium	heart
37	chr20:13767600-13775200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr20:13767600-13775200	Weak transcription	Small Intestine	intestine
39	chr20:13767600-13789800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr20:13767600-13799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr20:13767800-13770000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr20:13767800-13770400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:13767800-13770800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr20:13767800-13770800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr20:13767800-13771400	Strong transcription	Left Ventricle	heart
46	chr20:13767800-13799400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr20:13767800-13800600	Weak transcription	Stomach Mucosa	stomach
48	chr20:13768000-13770200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr20:13768000-13770400	Weak transcription	Brain Substantia Nigra	brain
50	chr20:13768000-13770400	Weak transcription	Rectal Smooth Muscle	rectum

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