Variant report

Variant	rs17008608
Chromosome Location	chr2:73259564-73259565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73254347..73256167-chr2:73257234..73261154,3	MCF-7	breast:
2	chr2:73258611..73261068-chr2:73299102..73300882,2	K562	blood:
3	chr2:73259149..73261348-chr2:73381136..73383843,2	MCF-7	breast:
4	chr2:73258039..73260851-chr2:73297061..73298699,2	K562	blood:
5	chr2:73258780..73261218-chr2:73297373..73300068,3	MCF-7	breast:
6	chr2:73259537..73261339-chr2:73261997..73264080,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1046183	0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10496188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13404068	0.91[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17008541	1.00[CEU][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17008565	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17008579	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2421099	0.91[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3849393	0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58731407	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59108557	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61164794	0.96[EUR][1000 genomes]
rs61652727	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147718	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62147722	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62147726	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62147727	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147728	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62147733	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147735	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62147756	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62148129	0.81[AMR][1000 genomes]
rs62148130	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66570372	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710911	0.90[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6753054	1.00[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6753133	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6753301	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67673165	0.83[AMR][1000 genomes];0.95[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	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	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
3	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:73220600-73263200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:73221200-73263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:73224600-73261200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
9	chr2:73236000-73264200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:73246400-73263400	Weak transcription	K562	blood
11	chr2:73246400-73263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
14	chr2:73247400-73283800	Weak transcription	Dnd41	blood
15	chr2:73248200-73277200	Weak transcription	HMEC	breast
16	chr2:73248800-73261200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:73249000-73263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:73249000-73270200	Weak transcription	Fetal Thymus	thymus
19	chr2:73249200-73265200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:73249200-73276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:73249400-73260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:73249400-73263000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:73249400-73265200	Weak transcription	Left Ventricle	heart
24	chr2:73249400-73267600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:73249400-73267600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
27	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
28	chr2:73249600-73261000	Weak transcription	Adipose Nuclei	Adipose
29	chr2:73249600-73263000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:73249600-73263000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:73249600-73263200	Weak transcription	Esophagus	oesophagus
32	chr2:73249600-73263400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:73249600-73263800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:73249600-73264000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:73249600-73264000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:73249600-73266400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:73249600-73267600	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:73249600-73267600	Weak transcription	Lung	lung
39	chr2:73249600-73267800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:73249600-73271800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:73249600-73277000	Weak transcription	NH-A	brain
42	chr2:73249600-73290000	Weak transcription	NHLF	lung
43	chr2:73249800-73261200	Weak transcription	Right Ventricle	heart
44	chr2:73250000-73277200	Weak transcription	HSMMtube	muscle
45	chr2:73250200-73261000	Weak transcription	Brain Angular Gyrus	brain
46	chr2:73250200-73263200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:73250200-73271400	Weak transcription	Thymus	Thymus
48	chr2:73250200-73284200	Weak transcription	Ovary	ovary
49	chr2:73250400-73261200	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:73250400-73263000	Weak transcription	Fetal Stomach	stomach

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