Variant report

Variant	rs72723165
Chromosome Location	chr1:94305520-94305521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94304960..94306492-chr1:94311503..94313752,2	MCF-7	breast:

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

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10489605	0.83[ASN][1000 genomes]
rs10874795	0.97[ASN][1000 genomes]
rs1108527	0.83[EUR][1000 genomes]
rs1108528	0.84[EUR][1000 genomes]
rs11164994	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11165001	0.91[ASN][1000 genomes]
rs11165019	0.97[ASN][1000 genomes]
rs12079584	0.97[ASN][1000 genomes]
rs12239830	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100397	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110408	0.91[ASN][1000 genomes]
rs17304770	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17878271	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17878294	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17881810	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17884788	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17885151	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17886352	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1877605	0.86[EUR][1000 genomes]
rs2223908	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3761913	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41292665	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4615846	0.82[ASN][1000 genomes]
rs57870303	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61425457	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61781048	0.83[EUR][1000 genomes]
rs61781049	0.96[EUR][1000 genomes]
rs61781051	0.98[EUR][1000 genomes]
rs61781053	1.00[EUR][1000 genomes]
rs61781054	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61781055	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61781056	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61781057	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782162	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782163	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782164	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782165	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782398	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782399	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782400	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782403	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782404	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782405	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782410	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782413	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782449	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61782450	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782451	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782458	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782459	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6660794	0.91[ASN][1000 genomes]
rs6671839	0.91[ASN][1000 genomes]
rs6674149	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6689215	0.89[ASN][1000 genomes]
rs6689746	0.91[ASN][1000 genomes]
rs6703468	0.91[ASN][1000 genomes]
rs717913	0.91[ASN][1000 genomes]
rs72723114	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723118	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723125	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723138	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723157	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723169	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723178	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72967397	0.97[ASN][1000 genomes]
rs7523682	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
5	chr1:94295400-94310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:94298200-94307000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:94299000-94308600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:94299400-94310200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:94300600-94309400	Weak transcription	Dnd41	blood
10	chr1:94300800-94311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:94301400-94309600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:94302200-94309600	Weak transcription	Placenta	Placenta
13	chr1:94302200-94311200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:94302200-94311200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:94302800-94309600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:94303000-94305800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:94303200-94309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:94303200-94310200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:94303800-94306000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:94303800-94306800	Weak transcription	Spleen	Spleen
21	chr1:94303800-94311600	Weak transcription	Gastric	stomach
22	chr1:94304000-94311200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:94304200-94311000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:94304400-94305800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:94304400-94305800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:94304400-94306000	Enhancers	NHDF-Ad	bronchial
27	chr1:94304400-94306200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:94304400-94310200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:94304600-94305800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:94304600-94306400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:94304800-94305600	Enhancers	NHEK	skin
32	chr1:94304800-94305800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:94304800-94305800	Enhancers	NH-A	brain
34	chr1:94304800-94306200	Enhancers	HMEC	breast
35	chr1:94304800-94306400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:94304800-94306400	Enhancers	NHLF	lung
37	chr1:94304800-94307000	Enhancers	Hela-S3	cervix
38	chr1:94305000-94305800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:94305000-94306000	Enhancers	HSMM	muscle
40	chr1:94305000-94306600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:94305000-94311000	Weak transcription	Left Ventricle	heart
42	chr1:94305200-94305600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:94305200-94305800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:94305200-94306200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:94305200-94306400	Enhancers	Osteobl	bone
46	chr1:94305200-94306800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:94305400-94305600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:94305400-94305600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:94305400-94305600	Enhancers	HSMMtube	muscle
50	chr1:94305400-94305800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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