Variant report

Variant	rs73945735
Chromosome Location	chr2:73264240-73264241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73263570..73266095-chr2:73269453..73271699,3	K562	blood:
2	chr2:73263927..73265725-chr2:73439320..73441823,2	MCF-7	breast:
3	chr2:73261709..73264635-chr2:73311097..73313338,2	MCF-7	breast:
4	chr2:73263344..73265011-chr2:73265277..73267686,2	MCF-7	breast:
5	chr2:73249439..73251038-chr2:73263173..73266151,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135632	Chromatin interaction
ENSG00000135631	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17348624	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17348638	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17433172	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17504663	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17504810	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17511570	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17570040	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17570432	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4143146	0.84[ASN][1000 genomes]
rs55633543	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55768189	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55801301	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55854246	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55881165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55938508	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56026282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56088054	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56161051	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56214999	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56280862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57522927	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57666506	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57868938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6706065	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73943009	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943014	0.98[EUR][1000 genomes]
rs73943015	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943016	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943017	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73943034	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943035	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73943036	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73943408	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73943410	0.84[AMR][1000 genomes]
rs73945731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73945733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73945734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73945740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
2	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
6	chr2:73247400-73283800	Weak transcription	Dnd41	blood
7	chr2:73248200-73277200	Weak transcription	HMEC	breast
8	chr2:73249000-73270200	Weak transcription	Fetal Thymus	thymus
9	chr2:73249200-73265200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:73249200-73276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:73249400-73265200	Weak transcription	Left Ventricle	heart
12	chr2:73249400-73267600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:73249400-73267600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
15	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
16	chr2:73249600-73266400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:73249600-73267600	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:73249600-73267600	Weak transcription	Lung	lung
19	chr2:73249600-73267800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:73249600-73271800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:73249600-73277000	Weak transcription	NH-A	brain
22	chr2:73249600-73290000	Weak transcription	NHLF	lung
23	chr2:73250000-73277200	Weak transcription	HSMMtube	muscle
24	chr2:73250200-73271400	Weak transcription	Thymus	Thymus
25	chr2:73250200-73284200	Weak transcription	Ovary	ovary
26	chr2:73250400-73265000	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:73250400-73267600	Weak transcription	Spleen	Spleen
28	chr2:73250400-73277200	Weak transcription	Placenta	Placenta
29	chr2:73250800-73271400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:73250800-73276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:73253200-73280800	Weak transcription	Fetal Lung	lung
32	chr2:73255600-73265200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:73256400-73269400	Weak transcription	NHDF-Ad	bronchial
34	chr2:73256400-73271000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:73256800-73279400	Weak transcription	Osteobl	bone
36	chr2:73256800-73280200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:73256800-73290000	Weak transcription	HSMM	muscle
38	chr2:73258200-73268800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:73258600-73264600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:73259200-73264800	Weak transcription	Colonic Mucosa	Colon
41	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
42	chr2:73259600-73267600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:73260200-73267400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:73260200-73284200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:73260600-73284400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:73260800-73279200	Weak transcription	Fetal Intestine Large	intestine
47	chr2:73260800-73283800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:73261200-73269600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:73261400-73267600	Weak transcription	Brain Angular Gyrus	brain
50	chr2:73261400-73282000	Weak transcription	Adipose Nuclei	Adipose

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