Variant report

Variant	rs6042344
Chromosome Location	chr20:13729922-13729923
allele	A/G
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:13)

rs_ID	r²[population]
rs2094652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2327796	1.00[AMR][1000 genomes]
rs2423754	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34901599	1.00[AMR][1000 genomes]
rs4239710	1.00[AMR][1000 genomes]
rs4814255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4814257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4814259	0.83[AFR][1000 genomes]
rs6033822	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042326	1.00[AMR][1000 genomes]
rs6042334	1.00[AMR][1000 genomes]
rs6074639	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6079175	0.89[AFR][1000 genomes];1.00[AMR][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:121 , 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	chr20:13714000-13730400	Weak transcription	Esophagus	oesophagus
13	chr20:13714000-13731200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr20:13714000-13745400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr20:13714200-13736600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr20:13714400-13739000	Weak transcription	Brain Angular Gyrus	brain
17	chr20:13714400-13739800	Weak transcription	Fetal Kidney	kidney
18	chr20:13714400-13744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr20:13714600-13737600	Weak transcription	Placenta	Placenta
20	chr20:13715000-13732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr20:13717800-13738600	Weak transcription	Brain Anterior Caudate	brain
22	chr20:13718400-13731200	Weak transcription	Osteobl	bone
23	chr20:13718400-13739000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr20:13718400-13744400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr20:13718600-13739200	Weak transcription	Colon Smooth Muscle	Colon
26	chr20:13721600-13730400	Weak transcription	Fetal Intestine Small	intestine
27	chr20:13721600-13735400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr20:13721600-13737200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr20:13721800-13744200	Weak transcription	Brain Hippocampus Middle	brain
30	chr20:13722000-13739000	Weak transcription	NHDF-Ad	bronchial
31	chr20:13722000-13745000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr20:13722000-13748400	Weak transcription	Aorta	Aorta
33	chr20:13722200-13730800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr20:13722200-13734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr20:13722200-13736800	Weak transcription	NHLF	lung
36	chr20:13722200-13737200	Weak transcription	Left Ventricle	heart
37	chr20:13722200-13740000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr20:13722200-13742200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr20:13722200-13744800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr20:13722200-13745000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr20:13722200-13745400	Weak transcription	Brain Substantia Nigra	brain
42	chr20:13722200-13747800	Weak transcription	Lung	lung
43	chr20:13722200-13748400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr20:13722400-13730400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr20:13722400-13731200	Weak transcription	HMEC	breast
46	chr20:13722400-13738800	Weak transcription	NH-A	brain
47	chr20:13722600-13730000	Weak transcription	Fetal Thymus	thymus
48	chr20:13722600-13734400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr20:13722600-13739200	Weak transcription	Brain Germinal Matrix	brain
50	chr20:13722600-13742200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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