Variant report

Variant	rs72919784
Chromosome Location	chr2:55753104-55753105
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55751187..55754186-chr2:55756755..55759283,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163001	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11884148	1.00[AMR][1000 genomes]
rs11884255	1.00[AMR][1000 genomes]
rs11897251	1.00[AMR][1000 genomes]
rs56390609	1.00[AMR][1000 genomes]
rs57298935	0.83[AMR][1000 genomes]
rs57883523	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58772635	1.00[AMR][1000 genomes]
rs59796313	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59822040	0.83[AMR][1000 genomes]
rs60097935	1.00[AMR][1000 genomes]
rs61067080	1.00[AFR][1000 genomes]
rs6729650	1.00[AMR][1000 genomes]
rs72917903	1.00[AMR][1000 genomes]
rs72917924	1.00[AMR][1000 genomes]
rs72917948	1.00[AMR][1000 genomes]
rs72917974	1.00[AMR][1000 genomes]
rs72917976	1.00[AMR][1000 genomes]
rs72918887	1.00[AMR][1000 genomes]
rs72919765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919774	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72920703	1.00[AMR][1000 genomes]
rs72920705	1.00[AMR][1000 genomes]
rs72921811	0.83[AMR][1000 genomes]
rs72921812	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923707	0.83[AMR][1000 genomes]
rs72923710	0.83[AMR][1000 genomes]
rs72923716	0.83[AMR][1000 genomes]
rs72930820	1.00[AMR][1000 genomes]
rs72930831	0.83[AMR][1000 genomes]
rs72930837	1.00[AMR][1000 genomes]
rs72930864	1.00[AMR][1000 genomes]
rs7565042	1.00[AMR][1000 genomes]
rs7578877	1.00[AMR][1000 genomes]
rs7581700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602095	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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55747800-55753600	Weak transcription	Gastric	stomach
2	chr2:55747800-55784000	Weak transcription	Esophagus	oesophagus
3	chr2:55748000-55757600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:55748000-55761200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:55748000-55761200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:55748000-55784000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:55748000-55788000	Weak transcription	Colonic Mucosa	Colon
8	chr2:55748000-55793800	Weak transcription	Psoas Muscle	Psoas
9	chr2:55748200-55753200	Weak transcription	Fetal Kidney	kidney
10	chr2:55748200-55753200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:55748200-55753400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:55748200-55756600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:55748200-55757200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:55748200-55757200	Weak transcription	Brain Angular Gyrus	brain
15	chr2:55748200-55757200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:55748200-55757400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:55748200-55764600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:55748200-55764600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:55748200-55765000	Weak transcription	K562	blood
20	chr2:55748200-55769600	Weak transcription	Small Intestine	intestine
21	chr2:55748200-55769600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:55748200-55772000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:55748200-55773000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:55748200-55775800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:55748200-55777400	Weak transcription	NHLF	lung
26	chr2:55748200-55778800	Weak transcription	Fetal Heart	heart
27	chr2:55748200-55782400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:55748400-55753200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:55748400-55761400	Weak transcription	NHEK	skin
30	chr2:55748400-55764400	Weak transcription	GM12878-XiMat	blood
31	chr2:55748400-55772200	Weak transcription	HMEC	breast
32	chr2:55748600-55770000	Weak transcription	Dnd41	blood
33	chr2:55749400-55754400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:55749400-55758600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:55749600-55758800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:55749600-55760000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:55749800-55754000	Strong transcription	Brain Anterior Caudate	brain
38	chr2:55749800-55756800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:55750000-55775400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:55750200-55753400	Strong transcription	Colon Smooth Muscle	Colon
41	chr2:55750400-55760400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:55750600-55754000	Strong transcription	Osteobl	bone
43	chr2:55750600-55755400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:55750600-55760200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:55750800-55753400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:55750800-55753600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:55750800-55753800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:55750800-55753800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:55750800-55753800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:55750800-55753800	Strong transcription	Rectal Mucosa Donor 29	rectum

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