Variant report

Variant	rs4672648
Chromosome Location	chr2:213399917-213399918
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	chr2:212099679..212101187-chr2:213398262..213400932,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1026882	0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs13382807	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1351592	0.87[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1351593	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs1351594	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1384293	0.85[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs1384294	0.90[ASN][1000 genomes]
rs1384295	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs1531788	0.93[ASN][1000 genomes]
rs16848751	0.93[ASN][1000 genomes]
rs16848753	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs1905139	0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs1947932	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2128323	0.94[EUR][1000 genomes]
rs2178575	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs2178576	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs4233986	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6435708	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs6435709	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs6724920	0.95[EUR][1000 genomes]
rs6745293	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6761143	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs7556832	0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7561571	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs7564590	0.85[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs7565622	0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7571642	0.95[EUR][1000 genomes]
rs7573568	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs7598042	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs979124	0.90[ASN][1000 genomes]
rs979125	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014479	chr2:213370690-213413231	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv875812	chr2:213395507-213434856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213393000-213400800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:213393200-213400600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:213396600-213400000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:213397600-213400200	Enhancers	Brain Anterior Caudate	brain
5	chr2:213398400-213400000	Active TSS	Brain Germinal Matrix	brain
6	chr2:213398800-213401000	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr2:213398800-213402600	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr2:213399000-213400800	Bivalent/Poised TSS	Fetal Brain Male	brain
9	chr2:213399200-213400200	Weak transcription	Brain Angular Gyrus	brain
10	chr2:213399200-213400400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:213399200-213403800	Active TSS	Fetal Heart	heart
12	chr2:213399400-213400800	Weak transcription	Psoas Muscle	Psoas
13	chr2:213399600-213400200	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:213399600-213400400	Weak transcription	Aorta	Aorta
15	chr2:213399600-213400600	Weak transcription	Brain Substantia Nigra	brain
16	chr2:213399800-213400000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:213399800-213400200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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