Variant report

Variant	rs2067793
Chromosome Location	chr20:25214072-25214073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25213915..25215962-chr20:25232689..25235985,3	MCF-7	breast:
2	chr20:25205868..25207942-chr20:25212334..25216689,3	MCF-7	breast:
3	chr20:25204290..25209975-chr20:25213026..25218082,9	K562	blood:
4	chr20:24972110..24973767-chr20:25211986..25214800,2	MCF-7	breast:
5	chr20:25210678..25212616-chr20:25212688..25215321,2	MCF-7	breast:
6	chr20:25212487..25223003-chr20:25225155..25231821,24	MCF-7	breast:
7	chr20:25206707..25208538-chr20:25212928..25215597,2	MCF-7	breast:
8	chr20:25210927..25216331-chr20:25216727..25222043,13	MCF-7	breast:
9	chr20:25209487..25211779-chr20:25212504..25214793,2	MCF-7	breast:
10	chr20:25204290..25212190-chr20:25213333..25218082,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197586	Chromatin interaction
ENSG00000101474	Chromatin interaction
ENSG00000268302	Chromatin interaction
ENSG00000100994	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11907515	1.00[EUR][1000 genomes]
rs2145125	1.00[EUR][1000 genomes]
rs2180596	1.00[EUR][1000 genomes]
rs2180597	1.00[EUR][1000 genomes]
rs2228978	1.00[EUR][1000 genomes]
rs2387734	1.00[EUR][1000 genomes]
rs28496800	1.00[EUR][1000 genomes]
rs28770021	1.00[EUR][1000 genomes]
rs28881233	1.00[EUR][1000 genomes]
rs34299454	1.00[EUR][1000 genomes]
rs41282340	1.00[EUR][1000 genomes]
rs41304802	1.00[EUR][1000 genomes]
rs41308633	1.00[EUR][1000 genomes]
rs58412968	0.83[EUR][1000 genomes]
rs58953621	0.83[EUR][1000 genomes]
rs59082275	0.83[EUR][1000 genomes]
rs6037061	1.00[EUR][1000 genomes]
rs6037064	1.00[ASW][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6037068	1.00[EUR][1000 genomes]
rs6037070	1.00[EUR][1000 genomes]
rs6037071	1.00[EUR][1000 genomes]
rs6037073	1.00[EUR][1000 genomes]
rs6037075	1.00[EUR][1000 genomes]
rs6050449	1.00[EUR][1000 genomes]
rs6050451	1.00[EUR][1000 genomes]
rs6050457	1.00[EUR][1000 genomes]
rs6050458	1.00[EUR][1000 genomes]
rs6050459	0.81[ASW][hapmap]
rs6050461	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6050462	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6050465	1.00[EUR][1000 genomes]
rs6050471	0.87[YRI][hapmap]
rs6050473	0.81[ASW][hapmap];1.00[EUR][1000 genomes]
rs6050474	1.00[EUR][1000 genomes]
rs6050476	1.00[EUR][1000 genomes]
rs6050478	1.00[EUR][1000 genomes]
rs6050486	0.81[ASW][hapmap];1.00[EUR][1000 genomes]
rs6050487	1.00[EUR][1000 genomes]
rs6050488	1.00[EUR][1000 genomes]
rs6050490	1.00[EUR][1000 genomes]
rs6050492	1.00[EUR][1000 genomes]
rs6050493	1.00[EUR][1000 genomes]
rs6050494	1.00[EUR][1000 genomes]
rs6050502	1.00[EUR][1000 genomes]
rs6050503	1.00[EUR][1000 genomes]
rs6050504	1.00[EUR][1000 genomes]
rs6050507	1.00[EUR][1000 genomes]
rs6050508	1.00[EUR][1000 genomes]
rs6050509	1.00[EUR][1000 genomes]
rs6050510	1.00[EUR][1000 genomes]
rs6050511	0.81[ASW][hapmap];1.00[EUR][1000 genomes]
rs6050512	0.81[ASW][hapmap]
rs6083725	1.00[CHD][hapmap]
rs7263527	1.00[EUR][1000 genomes]
rs7269045	1.00[EUR][1000 genomes]
rs7273544	1.00[EUR][1000 genomes]
rs7274919	0.83[EUR][1000 genomes]
rs73343076	0.83[EUR][1000 genomes]
rs73347016	0.83[EUR][1000 genomes]
rs73347066	0.83[EUR][1000 genomes]
rs7344105	1.00[EUR][1000 genomes]
rs736358	1.00[EUR][1000 genomes]
rs8116564	1.00[EUR][1000 genomes]
rs8118763	1.00[EUR][1000 genomes]
rs8120268	1.00[EUR][1000 genomes]
rs8123947	0.83[EUR][1000 genomes]
rs8125980	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25204200-25222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr20:25204400-25218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr20:25206800-25218200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr20:25207800-25218200	Weak transcription	Spleen	Spleen
5	chr20:25207800-25218200	Weak transcription	Dnd41	blood
6	chr20:25208400-25214200	Weak transcription	Brain Substantia Nigra	brain
7	chr20:25208600-25218200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr20:25209200-25218200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr20:25210800-25218200	Weak transcription	Lung	lung
10	chr20:25210800-25218400	Weak transcription	Brain Hippocampus Middle	brain
11	chr20:25211200-25214200	Weak transcription	Fetal Muscle Leg	muscle
12	chr20:25211200-25215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr20:25211200-25217600	Weak transcription	Aorta	Aorta
14	chr20:25211200-25218600	Weak transcription	Brain Anterior Caudate	brain
15	chr20:25212000-25218400	Weak transcription	Colon Smooth Muscle	Colon
16	chr20:25212200-25215400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr20:25212600-25215400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:25213200-25221800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:25213400-25214400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:25213400-25214400	Enhancers	Gastric	stomach
21	chr20:25213400-25214400	Enhancers	Ovary	ovary
22	chr20:25213400-25214600	Flanking Active TSS	A549	lung
23	chr20:25213400-25214800	Enhancers	Fetal Heart	heart
24	chr20:25213400-25222200	Enhancers	HMEC	breast
25	chr20:25213600-25214200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr20:25213600-25214400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr20:25213600-25214400	Enhancers	Pancreas	Pancrea
28	chr20:25213600-25214400	Flanking Active TSS	Hela-S3	cervix
29	chr20:25213600-25214400	Flanking Active TSS	HepG2	liver
30	chr20:25213600-25214600	Enhancers	Liver	Liver
31	chr20:25213600-25214600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr20:25213600-25215600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr20:25213600-25216000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr20:25213600-25222200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr20:25213800-25214200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr20:25213800-25214200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr20:25213800-25214200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr20:25213800-25214200	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr20:25213800-25214400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:25213800-25214400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr20:25213800-25214400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr20:25213800-25214400	Enhancers	Duodenum Mucosa	Duodenum
43	chr20:25213800-25214400	Enhancers	Esophagus	oesophagus
44	chr20:25213800-25214400	Enhancers	Left Ventricle	heart
45	chr20:25213800-25214400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr20:25213800-25214400	Enhancers	HSMM	muscle
47	chr20:25213800-25214400	Enhancers	HSMMtube	muscle
48	chr20:25213800-25214400	Enhancers	K562	blood
49	chr20:25213800-25214400	Flanking Active TSS	NH-A	brain
50	chr20:25213800-25214400	Enhancers	NHDF-Ad	bronchial

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