Variant report

Variant	rs72721009
Chromosome Location	chr1:93915260-93915261
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
2	chr1:93913254..93915566-chr1:94049347..94051024,2	MCF-7	breast:
3	chr1:93914879..93917685-chr1:93917983..93919742,2	MCF-7	breast:
4	chr1:93913059..93915471-chr1:94146480..94149352,2	MCF-7	breast:
5	chr1:93910284..93912598-chr1:93914340..93918021,4	K562	blood:

Variant related genes	Relation type
ENSG00000211575	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1079750	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11164930	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164932	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164940	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060221	0.83[EUR][1000 genomes]
rs12062584	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12069440	0.95[ASN][1000 genomes]
rs12086857	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096122	0.86[ASN][1000 genomes]
rs12096561	0.83[EUR][1000 genomes]
rs12409932	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410123	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17109951	0.84[EUR][1000 genomes]
rs17109997	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17387059	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2011212	0.81[EUR][1000 genomes]
rs2081568	0.83[EUR][1000 genomes]
rs2624437	0.94[EUR][1000 genomes]
rs57710451	0.81[EUR][1000 genomes]
rs59792151	0.81[EUR][1000 genomes]
rs60822733	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61580948	0.81[EUR][1000 genomes]
rs6688111	0.84[EUR][1000 genomes]
rs67012296	0.81[EUR][1000 genomes]
rs72721010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721014	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721019	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961351	0.80[EUR][1000 genomes]
rs7339890	0.81[EUR][1000 genomes]
rs7539210	0.87[EUR][1000 genomes]
rs7553695	0.94[EUR][1000 genomes]
rs900310	0.81[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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93912400-93915400	Active TSS	Fetal Lung	lung
2	chr1:93912400-93915400	Active TSS	Rectal Smooth Muscle	rectum
3	chr1:93912400-93915600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:93912400-93915800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:93912400-93916200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:93912600-93915400	Active TSS	Fetal Brain Male	brain
7	chr1:93912600-93915400	Active TSS	Right Ventricle	heart
8	chr1:93912600-93916600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:93912800-93915400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:93912800-93915400	Active TSS	Brain Anterior Caudate	brain
11	chr1:93912800-93915400	Active TSS	Duodenum Mucosa	Duodenum
12	chr1:93912800-93915400	Active TSS	Fetal Kidney	kidney
13	chr1:93912800-93915400	Active TSS	Psoas Muscle	Psoas
14	chr1:93912800-93915400	Active TSS	HSMM	muscle
15	chr1:93912800-93916000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:93913000-93915400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:93913000-93915400	Active TSS	Aorta	Aorta
18	chr1:93913000-93915800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:93913000-93915800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:93913000-93916200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:93913000-93916400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:93913000-93916400	Active TSS	Fetal Intestine Large	intestine
23	chr1:93913000-93916600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr1:93913000-93916600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:93913200-93915400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:93913200-93915400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:93913200-93915400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr1:93913200-93916000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:93913200-93916000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr1:93913200-93916200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:93913200-93916400	Active TSS	HMEC	breast
32	chr1:93913400-93915400	Active TSS	Hela-S3	cervix
33	chr1:93913400-93915400	Active TSS	HSMMtube	muscle
34	chr1:93913400-93915600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:93913400-93915800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:93914200-93915400	Active TSS	Right Atrium	heart
37	chr1:93914200-93916000	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr1:93914400-93915400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:93914400-93915400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:93914400-93915400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:93914400-93915400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:93914400-93915400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr1:93914400-93915400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
44	chr1:93914400-93915400	Flanking Active TSS	Dnd41	blood
45	chr1:93914600-93915400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
46	chr1:93914600-93915400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:93914600-93916400	Active TSS	Fetal Brain Female	brain
48	chr1:93914800-93915400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:93914800-93915400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
50	chr1:93914800-93915400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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