Variant report

Variant	rs4814257
Chromosome Location	chr20:13735701-13735702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13734897..13737006-chr20:13764167..13767082,2	K562	blood:

Variant related genes	Relation type
ENSG00000101247	Chromatin interaction
ENSG00000089048	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2094652	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2327796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2423754	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs243917	1.00[EUR][1000 genomes]
rs34901599	1.00[AMR][1000 genomes]
rs4239710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4814255	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4814259	0.85[AFR][1000 genomes]
rs6033822	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042344	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6074639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6079175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	chr20:13698400-13739000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr20:13712800-13745000	Weak transcription	Pancreas	Pancrea
9	chr20:13713000-13746200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr20:13713000-13747400	Weak transcription	Right Ventricle	heart
11	chr20:13713000-13748600	Weak transcription	Spleen	Spleen
12	chr20:13714000-13745400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr20:13714200-13736600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr20:13714400-13739000	Weak transcription	Brain Angular Gyrus	brain
15	chr20:13714400-13739800	Weak transcription	Fetal Kidney	kidney
16	chr20:13714400-13744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr20:13714600-13737600	Weak transcription	Placenta	Placenta
18	chr20:13717800-13738600	Weak transcription	Brain Anterior Caudate	brain
19	chr20:13718400-13739000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr20:13718400-13744400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr20:13718600-13739200	Weak transcription	Colon Smooth Muscle	Colon
22	chr20:13721600-13737200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr20:13721800-13744200	Weak transcription	Brain Hippocampus Middle	brain
24	chr20:13722000-13739000	Weak transcription	NHDF-Ad	bronchial
25	chr20:13722000-13745000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr20:13722000-13748400	Weak transcription	Aorta	Aorta
27	chr20:13722200-13736800	Weak transcription	NHLF	lung
28	chr20:13722200-13737200	Weak transcription	Left Ventricle	heart
29	chr20:13722200-13740000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr20:13722200-13742200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr20:13722200-13744800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr20:13722200-13745000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr20:13722200-13745400	Weak transcription	Brain Substantia Nigra	brain
34	chr20:13722200-13747800	Weak transcription	Lung	lung
35	chr20:13722200-13748400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:13722400-13738800	Weak transcription	NH-A	brain
37	chr20:13722600-13739200	Weak transcription	Brain Germinal Matrix	brain
38	chr20:13722600-13742200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr20:13722800-13738600	Weak transcription	Fetal Brain Female	brain
40	chr20:13722800-13744600	Weak transcription	Fetal Brain Male	brain
41	chr20:13722800-13745000	Weak transcription	Thymus	Thymus
42	chr20:13722800-13745400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr20:13722800-13745600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr20:13723000-13739400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr20:13723200-13744200	Weak transcription	K562	blood
46	chr20:13723200-13745000	Weak transcription	Fetal Muscle Leg	muscle
47	chr20:13723400-13737400	Weak transcription	Ovary	ovary
48	chr20:13724400-13738800	Strong transcription	Dnd41	blood
49	chr20:13725200-13737400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr20:13725400-13737200	Weak transcription	GM12878-XiMat	blood

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