Variant report

Variant	rs17511570
Chromosome Location	chr2:73263820-73263821
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73219939..73220598-chr2:73263073..73263989,3	MCF-7	breast:
2	chr2:73263570..73266095-chr2:73269453..73271699,3	K562	blood:
3	chr2:73259537..73261339-chr2:73261997..73264080,2	MCF-7	breast:
4	chr2:73261709..73264635-chr2:73311097..73313338,2	MCF-7	breast:
5	chr2:73263344..73265011-chr2:73265277..73267686,2	MCF-7	breast:
6	chr2:73249439..73251038-chr2:73263173..73266151,2	MCF-7	breast:

Variant related genes	Relation type
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	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17348638	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17433172	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17504663	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17504810	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17570040	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17570432	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4143146	0.86[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs55633543	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55768189	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55801301	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55854246	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55881165	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55938508	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56026282	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56088054	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56161051	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56214999	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56280862	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57522927	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57666506	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57868938	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6706065	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73943009	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943014	0.98[EUR][1000 genomes]
rs73943015	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943016	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943017	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73943034	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943035	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73943036	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73943408	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73943410	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73945731	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73945733	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73945734	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73945735	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73945740	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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:104 , 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	chr2:73236000-73264200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
7	chr2:73247400-73283800	Weak transcription	Dnd41	blood
8	chr2:73248200-73277200	Weak transcription	HMEC	breast
9	chr2:73249000-73270200	Weak transcription	Fetal Thymus	thymus
10	chr2:73249200-73265200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:73249200-73276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:73249400-73265200	Weak transcription	Left Ventricle	heart
13	chr2:73249400-73267600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:73249400-73267600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
16	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
17	chr2:73249600-73264000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:73249600-73264000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:73249600-73266400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:73249600-73267600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:73249600-73267600	Weak transcription	Lung	lung
22	chr2:73249600-73267800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:73249600-73271800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:73249600-73277000	Weak transcription	NH-A	brain
25	chr2:73249600-73290000	Weak transcription	NHLF	lung
26	chr2:73250000-73277200	Weak transcription	HSMMtube	muscle
27	chr2:73250200-73271400	Weak transcription	Thymus	Thymus
28	chr2:73250200-73284200	Weak transcription	Ovary	ovary
29	chr2:73250400-73265000	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:73250400-73267600	Weak transcription	Spleen	Spleen
31	chr2:73250400-73277200	Weak transcription	Placenta	Placenta
32	chr2:73250800-73271400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:73250800-73276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:73253200-73280800	Weak transcription	Fetal Lung	lung
35	chr2:73255600-73264000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:73255600-73265200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:73255800-73264000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:73256400-73264000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:73256400-73269400	Weak transcription	NHDF-Ad	bronchial
40	chr2:73256400-73271000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:73256800-73279400	Weak transcription	Osteobl	bone
42	chr2:73256800-73280200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:73256800-73290000	Weak transcription	HSMM	muscle
44	chr2:73258200-73268800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:73258600-73264600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr2:73259200-73264800	Weak transcription	Colonic Mucosa	Colon
47	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
48	chr2:73259600-73267600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:73260200-73267400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:73260200-73284200	Weak transcription	Duodenum Mucosa	Duodenum

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