Variant report

Variant	rs6042206
Chromosome Location	chr20:13517344-13517345
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59005388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73266840	1.00[AMR][1000 genomes]
rs73268933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268957	1.00[AFR][1000 genomes];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	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv458871	chr20:13447896-13573415	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv585436	chr20:13447896-13573415	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	nsv912687	chr20:13507057-13591596	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13485000-13543600	Weak transcription	Small Intestine	intestine
2	chr20:13492200-13567000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:13493600-13519200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr20:13496000-13520200	Weak transcription	HSMMtube	muscle
5	chr20:13497800-13563400	Weak transcription	Pancreas	Pancrea
6	chr20:13502800-13519200	Weak transcription	Lung	lung
7	chr20:13503000-13537600	Weak transcription	Psoas Muscle	Psoas
8	chr20:13503000-13538200	Weak transcription	Ovary	ovary
9	chr20:13504200-13527000	Strong transcription	Dnd41	blood
10	chr20:13506400-13558800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr20:13506600-13517800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:13507800-13526200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr20:13508000-13517800	Weak transcription	Gastric	stomach
14	chr20:13508000-13527000	Weak transcription	NHEK	skin
15	chr20:13508000-13534000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr20:13508000-13542000	Weak transcription	Fetal Intestine Small	intestine
17	chr20:13508000-13563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr20:13508200-13525000	Weak transcription	A549	lung
19	chr20:13508200-13556400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr20:13508400-13519800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr20:13508400-13538000	Weak transcription	HepG2	liver
22	chr20:13508400-13546600	Weak transcription	Fetal Kidney	kidney
23	chr20:13508400-13550400	Weak transcription	GM12878-XiMat	blood
24	chr20:13508400-13556000	Weak transcription	HSMM	muscle
25	chr20:13508400-13559600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr20:13508400-13563400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr20:13509000-13527200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:13509000-13528000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr20:13509200-13520600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr20:13509200-13536200	Weak transcription	Fetal Intestine Large	intestine
31	chr20:13509200-13548200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr20:13509200-13556000	Weak transcription	Fetal Stomach	stomach
33	chr20:13509600-13527200	Weak transcription	Liver	Liver
34	chr20:13509800-13526600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr20:13509800-13536200	Weak transcription	Fetal Muscle Leg	muscle
36	chr20:13509800-13538600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr20:13509800-13547400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr20:13512800-13548400	Weak transcription	Left Ventricle	heart
39	chr20:13512800-13556000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr20:13513000-13526800	Weak transcription	Aorta	Aorta
41	chr20:13513800-13517800	Weak transcription	Adipose Nuclei	Adipose
42	chr20:13513800-13517800	Weak transcription	HMEC	breast
43	chr20:13513800-13547600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr20:13514000-13532000	Weak transcription	Primary B cells from cord blood	blood
45	chr20:13514000-13536200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr20:13514400-13526200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr20:13514400-13527000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr20:13514800-13536600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr20:13514800-13541000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr20:13514800-13546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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