Variant report

Variant	rs72664391
Chromosome Location	chr1:57043432-57043433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56980951..56984721-chr1:57043418..57044964,3	MCF-7	breast:
2	chr1:56880012..56882436-chr1:57043109..57045195,2	MCF-7	breast:
3	chr1:56968634..56970634-chr1:57041979..57044955,2	MCF-7	breast:
4	chr1:56941233..56944264-chr1:57041554..57045074,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162407	Chromatin interaction
ENSG00000223956	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10888981	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1418521	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17114100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17114110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17114113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17114115	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17114126	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17114127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17114133	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55927525	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58146416	0.89[EUR][1000 genomes]
rs59475580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72664369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664370	0.89[EUR][1000 genomes]
rs72664380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72664390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72664392	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664395	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666448	0.89[EUR][1000 genomes]
rs72666498	0.89[EUR][1000 genomes]
rs72668306	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57038000-57043800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:57039600-57046000	Active TSS	Right Atrium	heart
3	chr1:57040000-57045600	Active TSS	Brain Angular Gyrus	brain
4	chr1:57040000-57046000	Active TSS	Ovary	ovary
5	chr1:57040200-57043600	Active TSS	Fetal Muscle Trunk	muscle
6	chr1:57040200-57043800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:57040200-57044200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr1:57040200-57045800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:57040200-57046000	Active TSS	Right Ventricle	heart
10	chr1:57040400-57045600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:57040600-57043800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:57040600-57045600	Active TSS	Brain Cingulate Gyrus	brain
13	chr1:57040800-57044000	Flanking Active TSS	HUVEC	blood vessel
14	chr1:57040800-57045600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:57040800-57045800	Active TSS	Placenta Amnion	Placenta Amnion
16	chr1:57041000-57045600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr1:57041000-57045800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr1:57041200-57045600	Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:57041200-57045600	Active TSS	Aorta	Aorta
20	chr1:57041400-57045600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:57041400-57045600	Active TSS	Liver	Liver
22	chr1:57041600-57045400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:57041800-57045600	Active TSS	Brain Hippocampus Middle	brain
24	chr1:57041800-57046000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:57042000-57043600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr1:57042000-57045600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:57042000-57045600	Active TSS	Fetal Intestine Large	intestine
28	chr1:57042000-57045800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:57042200-57043600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr1:57042200-57043800	Enhancers	Fetal Heart	heart
31	chr1:57042200-57044200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr1:57042200-57045800	Active TSS	Left Ventricle	heart
33	chr1:57042400-57043600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:57042400-57043800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:57042400-57043800	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr1:57042400-57044000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:57042400-57044000	Flanking Active TSS	Hela-S3	cervix
38	chr1:57042400-57044600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:57042400-57045400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:57042400-57045400	Active TSS	Esophagus	oesophagus
41	chr1:57042400-57045400	Active TSS	Gastric	stomach
42	chr1:57042400-57045400	Active TSS	Lung	lung
43	chr1:57042400-57045400	Active TSS	Pancreas	Pancrea
44	chr1:57042400-57045800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:57042400-57045800	Active TSS	Colonic Mucosa	Colon
46	chr1:57042400-57045800	Active TSS	Fetal Intestine Small	intestine
47	chr1:57042400-57045800	Active TSS	HSMMtube	muscle
48	chr1:57042600-57044200	Bivalent/Poised TSS	Fetal Brain Male	brain
49	chr1:57042600-57044400	Flanking Active TSS	Dnd41	blood
50	chr1:57042600-57045000	Transcr. at gene 5' and 3'	Fetal Lung	lung

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