Variant report

Variant	rs6115330
Chromosome Location	chr20:25833990-25833991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs13433200	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977877	1.00[ASN][1000 genomes]
rs2002942	1.00[ASN][1000 genomes]
rs2890395	0.83[ASN][1000 genomes]
rs4121105	1.00[ASN][1000 genomes]
rs4813595	1.00[ASN][1000 genomes]
rs4815476	1.00[ASN][1000 genomes]
rs4815482	1.00[ASN][1000 genomes]
rs4815489	1.00[ASN][1000 genomes]
rs4815490	1.00[ASN][1000 genomes]
rs4815491	1.00[ASN][1000 genomes]
rs4815494	1.00[ASN][1000 genomes]
rs4815495	1.00[ASN][1000 genomes]
rs4815496	1.00[ASN][1000 genomes]
rs4815497	0.83[ASN][1000 genomes]
rs56040867	0.83[ASN][1000 genomes]
rs56059532	1.00[ASN][1000 genomes]
rs59779961	1.00[ASN][1000 genomes]
rs60007971	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037252	1.00[ASN][1000 genomes]
rs6037270	1.00[ASN][1000 genomes]
rs6037305	1.00[ASN][1000 genomes]
rs6037306	1.00[ASN][1000 genomes]
rs6037307	1.00[ASN][1000 genomes]
rs6037311	1.00[ASN][1000 genomes]
rs6037313	1.00[ASN][1000 genomes]
rs6037314	1.00[ASN][1000 genomes]
rs6050932	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050939	0.83[ASN][1000 genomes]
rs6050941	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6050958	0.83[ASN][1000 genomes]
rs6050997	1.00[CHB][hapmap]
rs6051049	1.00[ASN][1000 genomes]
rs6051067	1.00[ASN][1000 genomes]
rs6051072	1.00[ASN][1000 genomes]
rs6051087	1.00[ASN][1000 genomes]
rs6107062	1.00[CHB][hapmap]
rs6107064	1.00[CHB][hapmap]
rs6107112	1.00[ASN][1000 genomes]
rs61091356	1.00[ASN][1000 genomes]
rs6115319	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115340	0.83[ASN][1000 genomes]
rs6115343	1.00[ASN][1000 genomes]
rs6115347	1.00[ASN][1000 genomes]
rs6115350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6115351	1.00[ASN][1000 genomes]
rs6115355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6115405	1.00[CHB][hapmap]
rs6115429	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs7267539	1.00[ASN][1000 genomes]
rs7268237	1.00[CHB][hapmap]
rs7274331	1.00[ASN][1000 genomes]
rs7345455	1.00[ASN][1000 genomes]
rs9653636	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758517	chr20:25701992-26319569	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
2	esv2758790	chr20:25701992-26319569	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv470545	chr20:25715507-26309255	Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv979422	chr20:25732656-25867609	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv990797	chr20:25761510-25837259	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv10664	chr20:25767042-25849064	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv585749	chr20:25767347-25856929	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv585752	chr20:25786189-25864851	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv585753	chr20:25786189-25892571	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv585754	chr20:25786301-25864851	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv585755	chr20:25786301-25871801	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv585756	chr20:25786301-25948094	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv585757	chr20:25786301-25948327	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv585758	chr20:25786984-25951658	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv585759	chr20:25787096-25948327	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv3496004	chr20:25829408-25838116	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3496005	chr20:25829408-25838116	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1059041	chr20:25832105-26007269	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1060065	chr20:25832105-26305567	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
20	nsv9795	chr20:25832369-25851689	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25829400-25834200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:25829400-25836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:25832600-25834000	Flanking Active TSS	Dnd41	blood
4	chr20:25832800-25834200	Enhancers	Fetal Brain Male	brain
5	chr20:25833200-25835400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr20:25833400-25835000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr20:25833400-25835200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr20:25833600-25834000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:25833600-25834000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr20:25833600-25834000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr20:25833600-25834000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr20:25833600-25834000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr20:25833600-25834000	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr20:25833600-25834000	Flanking Active TSS	Esophagus	oesophagus
15	chr20:25833600-25834000	Enhancers	Fetal Muscle Leg	muscle
16	chr20:25833600-25834000	Enhancers	Placenta	Placenta
17	chr20:25833600-25834000	Flanking Active TSS	Fetal Stomach	stomach
18	chr20:25833600-25834000	Flanking Active TSS	Left Ventricle	heart
19	chr20:25833600-25834000	Flanking Active TSS	Pancreas	Pancrea
20	chr20:25833600-25834000	Flanking Active TSS	Right Ventricle	heart
21	chr20:25833600-25834000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr20:25833600-25834000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr20:25833600-25834000	Enhancers	Stomach Mucosa	stomach
24	chr20:25833600-25834000	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr20:25833600-25834000	Enhancers	Spleen	Spleen
26	chr20:25833600-25834000	Flanking Active TSS	HepG2	liver
27	chr20:25833600-25834200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr20:25833600-25834200	Enhancers	Fetal Heart	heart
29	chr20:25833600-25834200	Flanking Active TSS	Lung	lung
30	chr20:25833600-25834400	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr20:25833600-25835000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:25833600-25835200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:25833600-25835200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr20:25833600-25835200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr20:25833600-25835200	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr20:25833600-25835200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:25833600-25835200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:25833600-25835200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr20:25833600-25835200	Active TSS	Brain Angular Gyrus	brain
40	chr20:25833600-25835200	Active TSS	Brain Anterior Caudate	brain
41	chr20:25833600-25835200	Active TSS	Brain Cingulate Gyrus	brain
42	chr20:25833600-25835200	Active TSS	Brain Germinal Matrix	brain
43	chr20:25833600-25835200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr20:25833600-25835200	Active TSS	Colon Smooth Muscle	Colon
45	chr20:25833600-25835200	Active TSS	Fetal Kidney	kidney
46	chr20:25833600-25835200	Active TSS	Fetal Lung	lung
47	chr20:25833600-25835200	Active TSS	Ovary	ovary
48	chr20:25833600-25835200	Active TSS	Psoas Muscle	Psoas
49	chr20:25833600-25835200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr20:25833600-25835200	Active TSS	Right Atrium	heart

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