Variant report

Variant	rs60857691
Chromosome Location	chr20:13608010-13608011
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13606363..13608023-chr20:13611661..13613306,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11087053	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13043094	0.85[ASN][1000 genomes]
rs17191165	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295502	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3827701	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][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	esv1797514	chr20:13541011-13610424	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13526800-13613800	Weak transcription	Hela-S3	cervix
2	chr20:13556200-13618800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr20:13563800-13619000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:13564000-13612400	Weak transcription	Pancreas	Pancrea
5	chr20:13564200-13608400	Weak transcription	HSMM	muscle
6	chr20:13567200-13608600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr20:13567200-13618600	Weak transcription	Adipose Nuclei	Adipose
8	chr20:13567400-13608400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:13567400-13608400	Weak transcription	HMEC	breast
10	chr20:13567600-13608600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr20:13568000-13608400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr20:13573600-13609400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr20:13584000-13617800	Weak transcription	Aorta	Aorta
14	chr20:13585000-13610600	Weak transcription	Psoas Muscle	Psoas
15	chr20:13585200-13609000	Weak transcription	Fetal Muscle Leg	muscle
16	chr20:13586600-13608600	Weak transcription	GM12878-XiMat	blood
17	chr20:13587000-13618000	Weak transcription	Fetal Brain Male	brain
18	chr20:13588000-13618600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr20:13588600-13609200	Weak transcription	Left Ventricle	heart
20	chr20:13589800-13608400	Weak transcription	Osteobl	bone
21	chr20:13590800-13617800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:13591200-13619000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr20:13592200-13617800	Weak transcription	Small Intestine	intestine
24	chr20:13594400-13618600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr20:13595400-13618200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr20:13595600-13618200	Weak transcription	Colon Smooth Muscle	Colon
27	chr20:13596000-13608400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr20:13596200-13618200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr20:13596600-13608800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr20:13596600-13609400	Weak transcription	Fetal Brain Female	brain
31	chr20:13596600-13618000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr20:13597400-13618800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr20:13597800-13608200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr20:13597800-13608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:13598200-13618800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr20:13599000-13618600	Weak transcription	Fetal Intestine Small	intestine
37	chr20:13601000-13618400	Weak transcription	NHLF	lung
38	chr20:13601400-13608800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr20:13601400-13611400	Weak transcription	Brain Substantia Nigra	brain
40	chr20:13601600-13618200	Weak transcription	Brain Germinal Matrix	brain
41	chr20:13602000-13618200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr20:13602800-13610600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:13603200-13618000	Weak transcription	Fetal Kidney	kidney
44	chr20:13603400-13608600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr20:13603400-13613600	Genic enhancers	Dnd41	blood
46	chr20:13603400-13618000	Weak transcription	A549	lung
47	chr20:13603600-13608400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr20:13603600-13608400	Weak transcription	Liver	Liver
49	chr20:13603600-13608800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr20:13603600-13608800	Weak transcription	Rectal Mucosa Donor 31	rectum

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