Variant report

Variant	rs7273313
Chromosome Location	chr20:25677187-25677188
allele	A/G
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	chr20:25603699..25606216-chr20:25676779..25679090,3	MCF-7	breast:
2	chr20:25675586..25677215-chr20:25728197..25729782,2	MCF-7	breast:
3	chr11:122931373..122931944-chr20:25676667..25677267,2	NB4	blood:
4	chr15:91260044..91260612-chr20:25677141..25678100,2	Hela-S3	cervix:
5	chr20:25673244..25674804-chr20:25675051..25677255,2	K562	blood:
6	chr20:25477099..25478848-chr20:25676437..25678716,2	MCF-7	breast:
7	chr20:25604068..25607059-chr20:25675582..25678596,4	MCF-7	breast:
8	chr20:25565180..25567156-chr20:25676091..25678288,2	MCF-7	breast:
9	chr20:25602422..25607796-chr20:25675112..25679388,9	K562	blood:
10	chr20:25602965..25606226-chr20:25676160..25678613,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170191	Chromatin interaction
ENSG00000259736	Chromatin interaction
ENSG00000197299	Chromatin interaction
ENSG00000213742	Chromatin interaction
ENSG00000101004	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1119163	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1985402	0.88[AMR][1000 genomes]
rs1985403	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2009090	0.98[EUR][1000 genomes]
rs2890396	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4447666	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4597609	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813575	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815440	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4815447	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57199512	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037225	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6037229	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037230	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050859	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6107051	0.83[ASN][1000 genomes]
rs6107062	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6107064	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6107072	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115230	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115239	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115240	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115244	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115261	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115262	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115270	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115272	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115273	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115275	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6515674	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7268237	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7268489	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7273102	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7274511	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7274637	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8118180	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8123585	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9917437	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912834	chr20:25615272-25756336	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1056288	chr20:25662941-25744711	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1057618	chr20:25665455-25744711	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25675600-25678200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:25676000-25678000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr20:25676000-25678400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr20:25676000-25678800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:25676200-25678000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr20:25676200-25678000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:25676200-25678000	Active TSS	Fetal Kidney	kidney
8	chr20:25676200-25678000	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr20:25676200-25678000	Active TSS	Hela-S3	cervix
10	chr20:25676200-25678000	Active TSS	HSMM	muscle
11	chr20:25676200-25678200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr20:25676200-25678200	Active TSS	NHEK	skin
13	chr20:25676200-25678400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr20:25676200-25678400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr20:25676200-25678400	Active TSS	NHLF	lung
16	chr20:25676200-25678600	Active TSS	A549	lung
17	chr20:25676400-25677200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr20:25676400-25677200	Active TSS	Right Atrium	heart
19	chr20:25676400-25677800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:25676400-25677800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr20:25676400-25677800	Active TSS	Aorta	Aorta
22	chr20:25676400-25677800	Active TSS	Ovary	ovary
23	chr20:25676400-25678000	Active TSS	H1 Cell Line	embryonic stem cell
24	chr20:25676400-25678000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr20:25676400-25678000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr20:25676400-25678000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr20:25676400-25678000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr20:25676400-25678000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:25676400-25678000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr20:25676400-25678000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr20:25676400-25678000	Active TSS	Liver	Liver
32	chr20:25676400-25678000	Active TSS	Brain Substantia Nigra	brain
33	chr20:25676400-25678000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr20:25676400-25678000	Active TSS	Esophagus	oesophagus
35	chr20:25676400-25678000	Active TSS	Fetal Intestine Large	intestine
36	chr20:25676400-25678000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr20:25676400-25678200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr20:25676400-25678200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr20:25676400-25678200	Active TSS	NHDF-Ad	bronchial
40	chr20:25676400-25678400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:25676400-25678400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr20:25676400-25678400	Active TSS	K562	blood
43	chr20:25676600-25677800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr20:25676600-25677800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr20:25676600-25677800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr20:25676600-25677800	Active TSS	Primary T cells from cord blood	blood
47	chr20:25676600-25677800	Active TSS	Primary hematopoietic stem cells	blood
48	chr20:25676600-25677800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr20:25676600-25677800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr20:25676600-25677800	Active TSS	Gastric	stomach

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